ClinVar Miner

List of variants in gene KCNH2 reported as pathogenic for Cardiovascular phenotype

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Total variants: 34
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HGVS dbSNP
NM_172056.2(KCNH2):c.1557+1G>A rs886039043
NM_172056.2(KCNH2):c.1620del (p.Arg541fs) rs1554425955
NM_172056.2(KCNH2):c.162C>G (p.Tyr54Ter) rs1554430962
NM_172056.2(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918
NM_172056.2(KCNH2):c.1681G>A (p.Ala561Thr) rs199472921
NM_172056.2(KCNH2):c.1681G>C (p.Ala561Pro) rs199472921
NM_172056.2(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_172056.2(KCNH2):c.1704G>A (p.Trp568Ter) rs199472926
NM_172056.2(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_172056.2(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_172056.2(KCNH2):c.1888del (p.Val630fs) rs1554425724
NM_172056.2(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_172056.2(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_172056.2(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_172056.2(KCNH2):c.2236del (p.Ala746fs) rs1554425277
NM_172056.2(KCNH2):c.234_241del (p.Ala79fs) rs886039045
NM_172056.2(KCNH2):c.307_307+1delinsTT rs1554430850
NM_172056.2(KCNH2):c.453del (p.Thr152fs) rs761863251
NM_172056.2(KCNH2):c.805_808delinsAGT (p.Arg269fs) rs1554427697
NM_172056.2(KCNH2):c.811_812insA (p.Arg271fs) rs1554427692
NM_172056.2(KCNH2):c.901_905CGCCA[3] (p.Ser304fs) rs1554427596
NM_172057.2(KCNH2):c.1422_1431del (p.Arg474fs) rs1554424849
NM_172057.2(KCNH2):c.1444G>A (p.Val482Met) rs121912506
NM_172057.2(KCNH2):c.1657_1660dup (p.Arg554fs) rs1385959174
NM_172057.2(KCNH2):c.1660_1666del (p.Arg554fs) rs1554424620
NM_172057.2(KCNH2):c.1743_1752del (p.Arg582fs) rs1554424390
NM_172057.2(KCNH2):c.1755dup (p.Pro586fs) rs794728455
NM_172057.2(KCNH2):c.1939_1940del (p.Leu647fs) rs748706373
NM_172057.2(KCNH2):c.2070_2073dup (p.Arg692fs) rs1554424091
NM_172057.2(KCNH2):c.2070_2082del (p.Arg692fs) rs1554424070
NM_172057.2(KCNH2):c.2074del (p.Arg692fs) rs864622309
NM_172057.2(KCNH2):c.2087dup (p.Asp697fs) rs794728469
NM_172057.2(KCNH2):c.2173C>T (p.Gln725Ter) rs1554423871
NM_172057.2(KCNH2):c.2310+1G>A rs1368439403

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