ClinVar Miner

List of variants in gene KCNH2 reported by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000238.4(KCNH2):c.2681G>A (p.Arg894His) rs199473668 0.00010
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu) rs759134380 0.00001
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438 0.00001
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) rs199473534 0.00001
NM_000238.4(KCNH2):c.2893G>A (p.Gly965Arg) rs199473015 0.00001
NM_000238.4(KCNH2):c.1102del (p.His368fs) rs1584863723
NM_000238.4(KCNH2):c.1139del (p.Leu380fs) rs1563161538
NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter) rs199472892
NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg) rs199472893
NM_000238.4(KCNH2):c.1342G>T (p.Ala448Ser) rs767723985
NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala) rs1584856497
NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys) rs794728409
NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val) rs1801214475
NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe) rs199472840
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter) rs1563156868
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) rs794728442
NM_000238.4(KCNH2):c.1918T>C (p.Phe640Leu) rs199473529
NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu) rs199472974
NM_000238.4(KCNH2):c.1967del (p.Phe656fs) rs1801136696
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.4(KCNH2):c.232_250del (p.Ala78fs) rs1584883087
NM_000238.4(KCNH2):c.2398+2T>A rs1563152963
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.2456del (p.Asn819fs) rs794728446
NM_000238.4(KCNH2):c.2616dup (p.Gly873fs) rs1584847173
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs) rs1385959174
NM_000238.4(KCNH2):c.2705del (p.Pro902fs) rs1563148264
NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs) rs2116933757
NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer)
NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs) rs1131692327
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000238.4(KCNH2):c.3017del (p.Gly1006fs) rs794728504
NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs) rs1584843078
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs) rs1584843033
NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter) rs1554423863
NM_000238.4(KCNH2):c.453del (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.566G>T (p.Gly189Val) rs1584866229
NM_000238.4(KCNH2):c.678del (p.Ala228fs) rs794728496
NM_000238.4(KCNH2):c.863T>C (p.Ile288Thr) rs1563169608
NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn) rs199472833
NM_000238.4(KCNH2):c.95C>T (p.Ala32Val) rs1801941580

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