ClinVar Miner

List of variants in gene KCNH2 studied for Short QT syndrome 1; Long QT syndrome 2

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Total variants: 18
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NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.4(KCNH2):c.2592+3G>A rs906562788
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435
NM_000238.4(KCNH2):c.551_559GCGCGGGCG[1] (p.184_186GAG[1]) rs551056698
NM_172056.2(KCNH2):c.1325C>T (p.Ala442Val) rs1554426225
NM_172056.2(KCNH2):c.1341C>T (p.Tyr447=) rs367570298
NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_172056.2(KCNH2):c.2104C>T (p.Gln702Ter) rs794728382
NM_172056.2(KCNH2):c.440A>G (p.His147Arg) rs768938134
NM_172056.2(KCNH2):c.446G>C (p.Gly149Ala) rs199472865
NM_172056.2(KCNH2):c.451C>G (p.Pro151Ala) rs1060500674
NM_172056.2(KCNH2):c.568G>A (p.Ala190Thr) rs150817714
NM_172056.2(KCNH2):c.865G>A (p.Glu289Lys) rs199472880
NM_172056.2(KCNH2):c.934C>T (p.Arg312Cys) rs199472885
NM_172056.2(KCNH2):c.950A>G (p.Asn317Ser) rs779027664
NM_172057.2(KCNH2):c.23C>T (p.Ala8Val) rs972201049
NM_172057.2(KCNH2):c.2416A>T (p.Thr806Ser) rs778879572
NM_172057.2(KCNH2):c.2437C>T (p.His813Tyr) rs199473035

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