chrom string | pos int64 | ref string | alt string | ClinSigSimple int64 | ClinicalSignificance string | ReviewStatus string | NumberSubmitters int64 | GeneSymbol string | VariationID int64 | feature_lvl2 string | genomic_element string | consequence string | variant_type string |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr11 | 126,275,389 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 6 | FOXRED1 | 5 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr11 | 126,276,476 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 | FOXRED1 | 31,048 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr11 | 126,275,000 | G | GGAGT | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 14 | FOXRED1 | 95,754 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr11 | 126,273,095 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | FOXRED1 | 137,398 | Far from Splice site (> 5bp) | intergenic | upstream_gene_variant | SNV |
chr11 | 126,276,235 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | FOXRED1 | 214,442 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr11 | 126,269,205 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 5 | FOXRED1 | 303,532 | Near Splice site (<= 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr11 | 126,277,802 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | FOXRED1 | 303,547 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr11 | 126,277,879 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | FOXRED1 | 303,550 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr11 | 126,277,818 | C | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | FOXRED1 | 303,548 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr11 | 126,273,068 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | FOXRED1 | 372,745 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr11 | 126,273,463 | C | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | FOXRED1 | 391,429 | Far from Splice site (> 5bp) | intergenic | upstream_gene_variant | SNV |
chr11 | 126,276,122 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | FOXRED1 | 449,732 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr11 | 126,276,905 | C | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | FOXRED1 | 678,598 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr11 | 126,276,479 | G | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | FOXRED1 | 981,124 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr11 | 126,272,869 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | FOXRED1 | 1,220,895 | Far from Splice site (> 5bp) | intergenic | upstream_gene_variant | SNV |
chr11 | 126,269,418 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | FOXRED1 | 1,230,245 | Far from Splice site (> 5bp) | intergenic | upstream_gene_variant | SNV |
chr11 | 126,273,097 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | FOXRED1 | 1,229,216 | Far from Splice site (> 5bp) | intergenic | upstream_gene_variant | SNV |
chr11 | 126,276,349 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | FOXRED1 | 1,269,876 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr11 | 126,276,036 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | FOXRED1 | 1,291,433 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr11 | 126,275,429 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | FOXRED1 | 1,705,022 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr6 | 26,091,108 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 12 | HFE | 129,225 | Near Splice site (<= 5bp) | splice_site | splice_region_variant | SNV |
chr6 | 26,090,953 | T | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 5 | HFE | 219,411 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr6 | 26,091,518 | ACC | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | HFE | 407,079 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr6 | 26,093,233 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 9 | HFE | 1,065,637 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr6 | 26,090,975 | C | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | HFE | 1,073,981 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr6 | 26,094,139 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | HFE | 1,164,200 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr6 | 26,092,976 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HFE | 1,260,209 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr6 | 26,087,518 | T | C | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | HFE | 1,685,344 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr20 | 25,302,322 | G | A | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | ABHD12 | 27 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr20 | 25,302,331 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | ABHD12 | 128,253 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr20 | 25,302,308 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 9 | ABHD12 | 128,254 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 25,307,996 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 9 | ABHD12 | 128,255 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 25,302,235 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | ABHD12 | 286,962 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 25,300,697 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ABHD12 | 337,987 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr20 | 25,300,866 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ABHD12 | 337,990 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr20 | 25,390,742 | G | GGCCTCCGCC | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 337,999 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_variant | insertion |
chr20 | 25,300,548 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ABHD12 | 337,986 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr20 | 25,339,341 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 6 | ABHD12 | 337,998 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr20 | 25,300,762 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ABHD12 | 337,988 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr20 | 25,390,797 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ABHD12 | 338,002 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_premature_start_codon_gain_variant | SNV |
chr20 | 25,306,909 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | ABHD12 | 452,247 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr20 | 25,320,386 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ABHD12 | 676,565 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 25,302,300 | AC | A | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | ABHD12 | 817,825 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr20 | 25,300,304 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 897,013 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr20 | 25,390,515 | G | C | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | ABHD12 | 1,168,257 | Near Splice site (<= 5bp) | splice_site | splice_region_variant | SNV |
chr20 | 25,303,302 | A | AG | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,188,930 | Far from Splice site (> 5bp) | intron | intron_variant | insertion |
chr20 | 25,303,707 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ABHD12 | 1,188,931 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 25,390,476 | GGCCCCC | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,188,988 | Far from Splice site (> 5bp) | intron | intron_variant | deletion |
chr20 | 25,390,489 | C | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ABHD12 | 1,188,989 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 25,301,097 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,225,388 | Far from Splice site (> 5bp) | intergenic | downstream_gene_variant | SNV |
chr20 | 25,323,475 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,253,726 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 25,303,881 | T | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,258,498 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 25,315,151 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,261,769 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 25,307,869 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,263,002 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 25,303,488 | C | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,267,214 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 25,309,241 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,271,914 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 25,339,592 | T | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,272,833 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 25,390,489 | C | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,275,559 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 25,301,198 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,276,966 | Far from Splice site (> 5bp) | intergenic | downstream_gene_variant | SNV |
chr20 | 25,390,751 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,289,125 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr20 | 25,323,296 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,292,496 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr20 | 25,390,477 | G | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | ABHD12 | 1,292,497 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr2 | 27,377,372 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | ZNF513 | 335,549 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr2 | 27,378,007 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | ZNF513 | 775,707 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr2 | 27,378,572 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | ZNF513 | 775,708 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr2 | 27,378,028 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | ZNF513 | 763,541 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr10 | 97,611,535 | G | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 9 | HOGA1 | 30 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 97,601,925 | T | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 7 | HOGA1 | 34 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 97,598,754 | A | G | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | HOGA1 | 204,254 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 97,598,784 | T | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | HOGA1 | 204,267 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 97,598,790 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | HOGA1 | 204,280 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 97,598,900 | G | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | HOGA1 | 204,270 | Near Splice site (<= 5bp) | CDS | missense_variant | SNV |
chr10 | 97,599,144 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 7 | HOGA1 | 204,256 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr10 | 97,599,649 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | HOGA1 | 204,259 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 97,599,655 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | HOGA1 | 204,258 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 97,599,780 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 7 | HOGA1 | 204,273 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 97,600,168 | G | T | 1 | Pathogenic | criteria provided, multiple submitters, no conflicts | 14 | HOGA1 | 204,285 | Near Splice site (<= 5bp) | splice_site | splice_region_variant | SNV |
chr10 | 97,600,230 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | HOGA1 | 204,260 | Far from Splice site (> 5bp) | intron | intron_variant | SNV |
chr10 | 97,601,919 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | HOGA1 | 204,276 | Far from Splice site (> 5bp) | CDS | stop_gained | SNV |
chr10 | 97,611,582 | C | T | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | HOGA1 | 204,279 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
chr10 | 97,611,587 | C | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 11 | HOGA1 | 204,264 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr10 | 97,584,425 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | HOGA1 | 301,787 | Far from Splice site (> 5bp) | 5UTR | 5_prime_UTR_variant | SNV |
chr10 | 97,601,842 | T | TCTTA | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | HOGA1 | 301,794 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | insertion |
chr10 | 97,600,170 | C | T | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | HOGA1 | 301,792 | Far from Splice site (> 5bp) | splice_site | splice_region_variant | SNV |
chr10 | 97,611,972 | A | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 3 | HOGA1 | 301,807 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 97,612,104 | A | G | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HOGA1 | 301,816 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 97,612,157 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HOGA1 | 301,818 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 97,612,219 | T | C | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HOGA1 | 301,819 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 97,612,296 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HOGA1 | 301,820 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 97,612,014 | C | T | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HOGA1 | 301,813 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 97,601,933 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 4 | HOGA1 | 301,796 | Far from Splice site (> 5bp) | CDS | synonymous_variant | SNV |
chr10 | 97,612,370 | G | A | 0 | Benign | criteria provided, multiple submitters, no conflicts | 2 | HOGA1 | 301,821 | Far from Splice site (> 5bp) | 3UTR | 3_prime_UTR_variant | SNV |
chr10 | 97,584,825 | CT | C | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | HOGA1 | 522,533 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 97,599,157 | AC | A | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | HOGA1 | 551,923 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 97,584,819 | A | AC | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | HOGA1 | 558,178 | Far from Splice site (> 5bp) | CDS | frameshift_variant | insertion |
chr10 | 97,599,088 | G | A | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | HOGA1 | 556,163 | Near Splice site (<= 5bp) | splice_site | splice_acceptor_variant | SNV |
chr10 | 97,599,193 | GC | G | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | HOGA1 | 556,221 | Far from Splice site (> 5bp) | CDS | frameshift_variant | deletion |
chr10 | 97,600,165 | T | G | 1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | HOGA1 | 554,760 | Near Splice site (<= 5bp) | splice_site | splice_donor_variant | SNV |
chr10 | 97,584,709 | G | GGGTCT | 1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | HOGA1 | 593,936 | Near Splice site (<= 5bp) | CDS | frameshift_variant | insertion |
chr10 | 97,601,871 | G | A | 0 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | HOGA1 | 723,653 | Far from Splice site (> 5bp) | CDS | missense_variant | SNV |
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