ClinVar Miner

List of variants in gene KCNH2 reported as pathogenic by Ambry Genetics

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Total variants: 34
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HGVS dbSNP
NM_000238.3(KCNH2):c.1557+1G>A rs886039043
NM_000238.3(KCNH2):c.1620del (p.Arg541fs) rs1554425955
NM_000238.3(KCNH2):c.162C>G (p.Tyr54Ter) rs1554430962
NM_000238.3(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918
NM_000238.3(KCNH2):c.1681G>A (p.Ala561Thr) rs199472921
NM_000238.3(KCNH2):c.1681G>C (p.Ala561Pro) rs199472921
NM_000238.3(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.3(KCNH2):c.1704G>A (p.Trp568Ter) rs199472926
NM_000238.3(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000238.3(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.3(KCNH2):c.1888del (p.Val630fs) rs1554425724
NM_000238.3(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_000238.3(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.3(KCNH2):c.2236del (p.Ala746fs) rs1554425277
NM_000238.3(KCNH2):c.234_241del (p.Ala79fs) rs886039045
NM_000238.3(KCNH2):c.2442_2451del (p.Arg814fs) rs1554424849
NM_000238.3(KCNH2):c.2464G>A (p.Val822Met) rs121912506
NM_000238.3(KCNH2):c.2587C>T (p.Arg863Ter) rs773724817
NM_000238.3(KCNH2):c.2677_2680dup (p.Arg894fs) rs1385959174
NM_000238.3(KCNH2):c.2680_2686del (p.Arg894fs) rs1554424620
NM_000238.3(KCNH2):c.2763_2772del (p.Arg922fs) rs1554424390
NM_000238.3(KCNH2):c.2775dup (p.Pro926fs) rs794728455
NM_000238.3(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.3(KCNH2):c.307_307+1delGGinsTT rs1554430850
NM_000238.3(KCNH2):c.3090_3093dup (p.Arg1032fs) rs1554424091
NM_000238.3(KCNH2):c.3090_3102del (p.Arg1032fs) rs1554424070
NM_000238.3(KCNH2):c.3094del (p.Arg1032fs) rs864622309
NM_000238.3(KCNH2):c.3107dup (p.Asp1037fs) rs794728469
NM_000238.3(KCNH2):c.3193C>T (p.Gln1065Ter) rs1554423871
NM_000238.3(KCNH2):c.3330+1G>A rs1368439403
NM_000238.3(KCNH2):c.453del (p.Thr152fs) rs761863251
NM_000238.3(KCNH2):c.805_808delinsAGT (p.Arg269fs) rs1554427697
NM_000238.3(KCNH2):c.811_812insA (p.Arg271fs) rs1554427692
NM_000238.3(KCNH2):c.901_905CGCCA[3] (p.Ser304fs) rs1554427596

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