ClinVar Miner

List of variants in gene KCNH2 reported by Biesecker Lab/Clinical Genomics Section,National Institutes of Health

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Total variants: 17
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HGVS dbSNP
NM_172056.2(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_172056.2(KCNH2):c.1330G>A (p.Glu444Lys) rs201268831
NM_172056.2(KCNH2):c.1598T>G (p.Val533Gly) rs202102276
NM_172056.2(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_172056.2(KCNH2):c.2414C>T (p.Ala805Val) rs201873431
NM_172056.2(KCNH2):c.2554G>A (p.Gly852Arg) rs139247073
NM_172056.2(KCNH2):c.2576C>T (p.Thr859Met) rs41314366
NM_172056.2(KCNH2):c.383A>G (p.Asn128Ser) rs200343670
NM_172056.2(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_172056.2(KCNH2):c.934C>T (p.Arg312Cys) rs199472885
NM_172057.2(KCNH2):c.1597G>A (p.Gly533Ser) rs41314354
NM_172057.2(KCNH2):c.1654C>T (p.Arg552Cys) rs201627778
NM_172057.2(KCNH2):c.1670A>C (p.Lys557Thr) rs1805123
NM_172057.2(KCNH2):c.1921A>G (p.Ser641Gly) rs76649554
NM_172057.2(KCNH2):c.1928C>T (p.Thr643Ile) rs149955375
NM_172057.2(KCNH2):c.2120G>T (p.Arg707Leu) rs36210421
NM_172057.2(KCNH2):c.2374C>G (p.Pro792Ala) rs786205422

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