ClinVar Miner

List of variants in gene KCNH2 reported by OMIM

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Total variants: 27
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HGVS dbSNP
NM_000238.3(KCNH2):c.1261del (p.Thr421Argfs) rs1554426258
NM_000238.3(KCNH2):c.1408A>G (p.Asn470Asp) rs121912505
NM_000238.3(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del) rs794728438
NM_000238.3(KCNH2):c.1672G>C (p.Ala558Pro) rs121912516
NM_000238.3(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.3(KCNH2):c.1714G>C (p.Gly572Arg) rs9333649
NM_000238.3(KCNH2):c.1744C>T (p.Arg582Cys) rs121912508
NM_000238.3(KCNH2):c.1764C>A (p.Asn588Lys) rs104894021
NM_000238.3(KCNH2):c.1764C>G (p.Asn588Lys) rs104894021
NM_000238.3(KCNH2):c.1778T>G (p.Ile593Arg) rs28928904
NM_000238.3(KCNH2):c.1831T>C (p.Tyr611His) rs199472942
NM_000238.3(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.3(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.3(KCNH2):c.193A>C (p.Thr65Pro) rs121912511
NM_000238.3(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_000238.3(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441
NM_000238.3(KCNH2):c.2398+1G>C rs794728391
NM_000238.3(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.3(KCNH2):c.2464G>A (p.Val822Met) rs121912506
NM_000238.3(KCNH2):c.2582A>T (p.Asn861Ile) rs121912513
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2775dupG (p.Pro926Alafs) rs794728455
NM_000238.3(KCNH2):c.2842C>T (p.Arg948Cys) rs121912514
NM_000238.3(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_000238.3(KCNH2):c.3003G>A (p.Trp1001Ter) rs121912509
NM_172057.2(KCNH2):c.1572+1G>A rs1554424772

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