ClinVar Miner

List of variants in gene KCNH2 reported as likely pathogenic by Invitae

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu) rs199472899 0.00001
NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp) rs199472931 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NC_000007.13:g.(?_150644396)_(150649961_?)dup
NM_000238.4(KCNH2):c.1128+1G>A rs1405113457
NM_000238.4(KCNH2):c.1129-831_3109dup
NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp) rs2116971776
NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu) rs1554426244
NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys) rs199472911
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.1558-1G>C rs2116964889
NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His)
NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu) rs199472919
NM_000238.4(KCNH2):c.167G>A (p.Arg56Gln) rs199472845
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr) rs794728481
NM_000238.4(KCNH2):c.1685A>C (p.His562Pro) rs199472922
NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln) rs199472924
NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys) rs199472926
NM_000238.4(KCNH2):c.1715G>T (p.Gly572Val) rs199473423
NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys) rs199473413
NM_000238.4(KCNH2):c.1745G>T (p.Arg582Leu) rs199473426
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser) rs199472939
NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu) rs2116960647
NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala)
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn) rs199472948
NM_000238.4(KCNH2):c.1868C>T (p.Thr623Ile) rs199472950
NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys) rs41307295
NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys)
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) rs794728442
NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg)
NM_000238.4(KCNH2):c.1946-4_1948del rs1801137678
NM_000238.4(KCNH2):c.2145+1G>A rs886039385
NM_000238.4(KCNH2):c.2146-1G>C
NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA rs1554425320
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu) rs199472986
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro) rs1801084514
NM_000238.4(KCNH2):c.2398+1G>T rs794728391
NM_000238.4(KCNH2):c.2398_2398+21del
NM_000238.4(KCNH2):c.2399-108_2488del rs2116940777
NM_000238.4(KCNH2):c.2399-2A>G
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.2592+1G>A rs1554424772
NM_000238.4(KCNH2):c.2593-1G>C
NM_000238.4(KCNH2):c.308-2A>G rs1057520598
NM_000238.4(KCNH2):c.3152+1G>T rs1057518151
NM_000238.4(KCNH2):c.3153-1G>C
NM_000238.4(KCNH2):c.322T>C (p.Cys108Arg) rs199472859
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs) rs1800857447
NM_000238.4(KCNH2):c.472+1G>A rs794728477
NM_000238.4(KCNH2):c.473-2A>G rs2117007319
NM_000238.4(KCNH2):c.76+1G>A rs2117072529
NM_000238.4(KCNH2):c.76+2T>A rs794728419
NM_000238.4(KCNH2):c.76_76+1del rs1563193513
NM_000238.4(KCNH2):c.77-1G>A rs794728406
NM_000238.4(KCNH2):c.910_916+11del rs1563169296
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp) rs199472884
NM_000238.4(KCNH2):c.917-2A>G rs2116999316

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