ClinVar Miner

List of variants in gene KCNH2 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) rs1137617 0.70278
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=) rs1805120 0.25427
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr) rs150817714 0.00076
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp) rs199473021 0.00004
NM_000238.4(KCNH2):c.1056C>T (p.Pro352=) rs1554427342
NM_000238.4(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.4(KCNH2):c.1500C>T (p.Ile500=) rs147126965
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro) rs1801182500
NM_000238.4(KCNH2):c.1703G>C (p.Trp568Ser) rs1554425880
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn) rs199472948
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_000238.4(KCNH2):c.206T>A (p.Leu69Gln) rs199473665
NM_000238.4(KCNH2):c.2398+3A>G rs1554425151
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.3054del (p.Thr1019fs) rs1554424138
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs) rs1554423346
NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs) rs1554427936
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter) rs1554431441

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