ClinVar Miner

List of variants reported as benign for angiokeratoma corporis diffusum with arteriovenous fistulas

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_194454.3(KRIT1):c.1980A>G (p.Val660=) rs11542682 0.10861
NM_194456.1(KRIT1):c.*1385A>G rs62467792 0.09876
NM_194456.1(KRIT1):c.-680G>A rs28365965 0.07914
NM_194456.1(KRIT1):c.-741C>T rs58075588 0.02902
NM_194454.3(KRIT1):c.*272G>A rs28502064 0.02669
NM_194456.1(KRIT1):c.*1444T>G rs10240962 0.02495
NM_194454.3(KRIT1):c.*320C>T rs112567410 0.02224
NM_019004.2(ANKIB1):c.-605T>C rs143215997 0.00775
NM_194454.3(KRIT1):c.-356G>A rs117169559 0.00740
NM_194454.3(KRIT1):c.*141C>T rs117325194 0.00554
NM_194456.1(KRIT1):c.*1363T>G rs148980420 0.00344
NM_194456.1(KRIT1):c.-701C>T rs553392669 0.00245
NM_194454.3(KRIT1):c.1095A>G (p.Gly365=) rs143710815 0.00238
NM_194454.3(KRIT1):c.-43C>T rs193080208 0.00215
NM_194454.3(KRIT1):c.1245T>G (p.Ile415Met) rs41278788 0.00189
NM_194456.1(KRIT1):c.*1750C>T rs188612683 0.00188
NM_194456.1(KRIT1):c.*1702A>G rs192818018 0.00163
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=) rs140009885 0.00146
NM_194454.3(KRIT1):c.1146+8A>T rs182762651 0.00093
NM_194454.3(KRIT1):c.77G>A (p.Arg26Gln) rs34358665 0.00088
NM_194454.3(KRIT1):c.1412-9G>A rs199932606 0.00043
NM_194454.3(KRIT1):c.302G>T (p.Gly101Val) rs147568834 0.00042
NM_194454.3(KRIT1):c.*46G>A rs369227523 0.00029
NM_194454.3(KRIT1):c.-2-7T>C rs550533414 0.00029
NM_194454.3(KRIT1):c.845+10C>T rs372125478 0.00026
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=) rs150912644 0.00022
NM_194454.3(KRIT1):c.*234G>A rs574668355 0.00019
NM_194454.3(KRIT1):c.1809T>C (p.His603=) rs149754162 0.00011
NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe) rs182763805 0.00006
NM_194454.3(KRIT1):c.1139C>T (p.Thr380Met) rs533696377 0.00004
NM_194454.3(KRIT1):c.846-15C>T rs527439925 0.00004
NM_194454.3(KRIT1):c.*57G>A rs529937203 0.00001
NM_194454.3(KRIT1):c.-312A>G rs538102163 0.00001
NM_194456.1(KRIT1):c.*1530T>C rs75182503 0.00001
NM_194454.3(KRIT1):c.*378dup rs34910226
NM_194454.3(KRIT1):c.-525G>T rs571563061
NM_194456.1(KRIT1):c.*1335T>C rs17164414

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