ClinVar Miner

Variants by significance

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Total significance terms: 19
Total variants: 2813113
Total genes and gene combinations: 53258
Total conditions: 23966
Total submitters: 2778
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Submission significance Variants Genes Conditions Submitters
uncertain significance 1372553 37596 12903 1085
likely benign 1014929 20858 10634 408
benign 299337 19189 9642 355
pathogenic 222779 14695 12245 2011
likely pathogenic 131994 7080 9318 1535
not provided 29891 3092 2471 170
drug response 2730 146 170 43
other 2172 138 1126 23
risk factor 1097 556 533 68
association 527 260 142 58
likely risk allele 345 65 45 23
affects 312 111 96 19
uncertain risk allele 259 40 25 8
protective 100 75 61 12
pathogenic, low penetrance 27 19 15 5
confers sensitivity 20 11 4 3
established risk allele 17 13 18 10
likely pathogenic, low penetrance 10 10 8 8
association not found 8 8 5 5

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