ClinVar Miner

List of variants in gene KCNH2 reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 30
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HGVS dbSNP
NM_000238.3(KCNH2):c.1983delC
NM_172056.2(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_172056.2(KCNH2):c.1426G>A (p.Val476Ile) rs199472908
NM_172056.2(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_172056.2(KCNH2):c.1474C>T (p.His492Tyr) rs199472910
NM_172056.2(KCNH2):c.1539C>T (p.Phe513=) rs1805120
NM_172056.2(KCNH2):c.1692A>G (p.Leu564=) rs1805121
NM_172056.2(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_172056.2(KCNH2):c.1956T>C (p.Tyr652=) rs1137617
NM_172056.2(KCNH2):c.2144C>T (p.Ala715Val) rs780656919
NM_172056.2(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
NM_172056.2(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_172056.2(KCNH2):c.2469del (p.Asn823fs) rs1060499871
NM_172056.2(KCNH2):c.2503del (p.Leu835fs) rs546898924
NM_172056.2(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_172056.2(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_172056.2(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_172056.2(KCNH2):c.551_559GCGCGGGCG[1] (p.184_186GAG[1]) rs551056698
NM_172057.2(KCNH2):c.1447C>T (p.Arg483Trp) rs199473538
NM_172057.2(KCNH2):c.1572+3G>A rs906562788
NM_172057.2(KCNH2):c.1634G>A (p.Arg545His) rs202194495
NM_172057.2(KCNH2):c.1670A>C (p.Lys557Thr) rs1805123
NM_172057.2(KCNH2):c.1687G>A (p.Gly563Arg) rs199473669
NM_172057.2(KCNH2):c.1697C>T (p.Ser566Leu) rs199473435
NM_172057.2(KCNH2):c.1730C>T (p.Pro577Leu) rs76420733
NM_172057.2(KCNH2):c.1751G>C (p.Gly584Ala) rs199473009
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872
NM_172057.2(KCNH2):c.2087G>A (p.Gly696Asp) rs199473022
NM_172057.2(KCNH2):c.2213A>G (p.Tyr738Cys) rs199473029
NM_172057.2(KCNH2):c.2258C>T (p.Pro753Leu) rs199473545

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