ClinVar Miner

List of variants in gene KCNH2 reported as pathogenic by Invitae

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Gene type:
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Total variants: 93
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HGVS dbSNP
NC_000007.13:g.(?_150642044)_(150656824_?)del
NC_000007.13:g.(?_150653076)_(150655552_?)del
NC_000007.13:g.(?_150656640)_(150656844_?)del
NC_000007.13:g.(?_150656650)_(150656834_?)del
NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs) rs863224478
NM_172056.2(KCNH2):c.1121_1122del (p.Val374fs) rs1554427317
NM_172056.2(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_172056.2(KCNH2):c.1132_1133del (p.Leu378fs) rs1563161565
NM_172056.2(KCNH2):c.1335dup (p.Gly446fs) rs1554426219
NM_172056.2(KCNH2):c.1379del (p.Asp460fs)
NM_172056.2(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_172056.2(KCNH2):c.146_147delinsAA (p.Cys49Ter)
NM_172056.2(KCNH2):c.1479C>A (p.Tyr493Ter) rs878853771
NM_172056.2(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_172056.2(KCNH2):c.154del (p.Cys52fs) rs794728508
NM_172056.2(KCNH2):c.1600C>T (p.Arg534Cys) rs199472916
NM_172056.2(KCNH2):c.1655T>A (p.Leu552Ter)
NM_172056.2(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918
NM_172056.2(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_172056.2(KCNH2):c.1689G>A (p.Trp563Ter) rs199473517
NM_172056.2(KCNH2):c.1695del (p.Cys566fs) rs1060500661
NM_172056.2(KCNH2):c.1701del (p.Trp568fs) rs794728440
NM_172056.2(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_172056.2(KCNH2):c.1744C>T (p.Arg582Cys) rs121912508
NM_172056.2(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_172056.2(KCNH2):c.1778T>A (p.Ile593Lys) rs28928904
NM_172056.2(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_172056.2(KCNH2):c.1810G>A (p.Gly604Ser) rs199473522
NM_172056.2(KCNH2):c.1825G>A (p.Asp609Asn) rs199472941
NM_172056.2(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_172056.2(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_172056.2(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_172056.2(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_172056.2(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_172056.2(KCNH2):c.1909G>A (p.Glu637Lys) rs199472968
NM_172056.2(KCNH2):c.1945+6T>C rs794728380
NM_172056.2(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_172056.2(KCNH2):c.2000dup (p.Tyr667Ter) rs1554425527
NM_172056.2(KCNH2):c.2062C>T (p.Gln688Ter) rs1554425486
NM_172056.2(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_172056.2(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_172056.2(KCNH2):c.2218dup (p.Cys740fs) rs1554425284
NM_172056.2(KCNH2):c.221_251del (p.Thr74fs) rs1554430908
NM_172056.2(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_172056.2(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_172056.2(KCNH2):c.2257del (p.Ala753fs)
NM_172056.2(KCNH2):c.234_250dup (p.Gln84fs)
NM_172056.2(KCNH2):c.2362_2363GA[3] (p.Ile789fs) rs1060500662
NM_172056.2(KCNH2):c.2403G>T (p.Met801Ile) rs1554425149
NM_172056.2(KCNH2):c.402del (p.Lys135fs) rs1060500670
NM_172056.2(KCNH2):c.453dup (p.Thr152fs) rs761863251
NM_172056.2(KCNH2):c.461G>A (p.Trp154Ter) rs1554428173
NM_172056.2(KCNH2):c.470del (p.Pro157fs) rs1554428170
NM_172056.2(KCNH2):c.512_536del (p.Leu171fs) rs1554427943
NM_172056.2(KCNH2):c.545C>A (p.Ser182Ter) rs1057517742
NM_172056.2(KCNH2):c.665_669delinsC (p.Val222fs) rs1085307620
NM_172056.2(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_172056.2(KCNH2):c.685G>T (p.Glu229Ter) rs730880116
NM_172056.2(KCNH2):c.735_754dup (p.Arg252fs) rs794728425
NM_172056.2(KCNH2):c.84del (p.Lys28fs)
NM_172057.2(KCNH2):c.1433C>T (p.Ser478Leu) rs121912510
NM_172057.2(KCNH2):c.1444G>A (p.Val482Met) rs121912506
NM_172057.2(KCNH2):c.1447C>T (p.Arg483Trp) rs199473538
NM_172057.2(KCNH2):c.1450del (p.Ala484fs) rs1064793434
NM_172057.2(KCNH2):c.1489G>A (p.Asp497Asn) rs199473005
NM_172057.2(KCNH2):c.1567C>T (p.Arg523Ter) rs773724817
NM_172057.2(KCNH2):c.1637dup (p.Arg547fs) rs1554424671
NM_172057.2(KCNH2):c.1670delinsCGACAC (p.Lys557fs)
NM_172057.2(KCNH2):c.1704_1708dup (p.Pro570fs) rs794728449
NM_172057.2(KCNH2):c.1709_1713CGGGC[1] (p.Arg572fs) rs794728502
NM_172057.2(KCNH2):c.1742del (p.Gly581fs)
NM_172057.2(KCNH2):c.1755dup (p.Pro586fs) rs794728455
NM_172057.2(KCNH2):c.1760G>A (p.Trp587Ter) rs794728399
NM_172057.2(KCNH2):c.1765dup (p.Glu589fs) rs794728458
NM_172057.2(KCNH2):c.1880dup (p.Pro628fs) rs786204101
NM_172057.2(KCNH2):c.1911C>A (p.Cys637Ter)
NM_172057.2(KCNH2):c.1939_1940del (p.Leu647fs) rs748706373
NM_172057.2(KCNH2):c.1982G>A (p.Trp661Ter) rs794728401
NM_172057.2(KCNH2):c.1997del (p.Gly666fs) rs794728504
NM_172057.2(KCNH2):c.2007C>G (p.Tyr669Ter) rs1057520558
NM_172057.2(KCNH2):c.2020C>T (p.Arg674Ter) rs794728403
NM_172057.2(KCNH2):c.2040del (p.Ser681fs) rs864622174
NM_172057.2(KCNH2):c.2070_2082del (p.Arg692fs) rs1554424070
NM_172057.2(KCNH2):c.2072_2076dup (p.Arg693fs) rs1554424083
NM_172057.2(KCNH2):c.2074del (p.Arg692fs) rs864622309
NM_172057.2(KCNH2):c.2077_2078dup (p.Pro694fs) rs1554424079
NM_172057.2(KCNH2):c.2079_2089dup (p.Asp697fs) rs794728466
NM_172057.2(KCNH2):c.2083del (p.Arg695fs) rs794728468
NM_172057.2(KCNH2):c.2085_2092dup (p.Val698fs) rs794728470
NM_172057.2(KCNH2):c.2087del (p.Gly696fs) rs794728469
NM_172057.2(KCNH2):c.2087dup (p.Asp697fs) rs794728469
NM_172057.2(KCNH2):c.2205_2211del (p.Pro736fs)
Single allele

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