ClinVar Miner

List of variants in gene KCNH2 studied for Long QT syndrome

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Gene type:
ClinVar version:
Total variants: 554
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HGVS dbSNP
NC_000007.13:g.(?_150642044)_(150656824_?)del
NC_000007.13:g.(?_150644396)_(150649961_?)dup
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.*112C>T rs28763994
NM_000238.3(KCNH2):c.*15G>A rs41313746
NM_000238.3(KCNH2):c.*195C>A rs886062085
NM_000238.3(KCNH2):c.*228G>A rs142254068
NM_000238.3(KCNH2):c.*367C>A rs886062084
NM_000238.3(KCNH2):c.*397T>C rs41312081
NM_000238.3(KCNH2):c.-207C>T rs886062091
NM_000238.3(KCNH2):c.-272C>T rs886062092
NM_000238.3(KCNH2):c.1035C>T (p.Gly345=) rs576125279
NM_000238.3(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.3(KCNH2):c.1056C>T (p.Pro352=) rs1554427342
NM_000238.3(KCNH2):c.1067G>A (p.Arg356His) rs730880118
NM_000238.3(KCNH2):c.1076T>A (p.Ile359Lys) rs1554427331
NM_000238.3(KCNH2):c.1081C>T (p.Pro361Ser) rs1293901043
NM_000238.3(KCNH2):c.1110C>A (p.Val370=) rs1460270324
NM_000238.3(KCNH2):c.1121_1122del (p.Val374fs) rs1554427317
NM_000238.3(KCNH2):c.1128+7G>A rs200884259
NM_000238.3(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.3(KCNH2):c.1129-1G>A rs794728478
NM_000238.3(KCNH2):c.1129-6G>T rs555400904
NM_000238.3(KCNH2):c.1129-832_3108dup
NM_000238.3(KCNH2):c.1132_1133del (p.Leu378fs) rs1563161565
NM_000238.3(KCNH2):c.1139del (p.Leu380fs) rs1563161538
NM_000238.3(KCNH2):c.1143C>T (p.Gly381=) rs1452623581
NM_000238.3(KCNH2):c.1146C>T (p.Ala382=) rs202147325
NM_000238.3(KCNH2):c.1158T>C (p.Pro386=) rs749161732
NM_000238.3(KCNH2):c.115T>C (p.Cys39Arg) rs757491162
NM_000238.3(KCNH2):c.1181G>A (p.Arg394His)
NM_000238.3(KCNH2):c.1189C>T (p.Arg397Cys) rs1060500663
NM_000238.3(KCNH2):c.1205A>G (p.His402Arg) rs199473506
NM_000238.3(KCNH2):c.1225G>A (p.Val409Met) rs539146547
NM_000238.3(KCNH2):c.1262C>T (p.Thr421Met) rs199472894
NM_000238.3(KCNH2):c.128A>G (p.Tyr43Cys) rs199472836
NM_000238.3(KCNH2):c.1291T>C (p.Phe431Leu) rs1554426244
NM_000238.3(KCNH2):c.1307C>T (p.Thr436Met) rs199472901
NM_000238.3(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.3(KCNH2):c.1325C>T (p.Ala442Val) rs1554426225
NM_000238.3(KCNH2):c.1332G>A (p.Glu444=) rs9770044
NM_000238.3(KCNH2):c.1335dup (p.Gly446fs) rs1554426219
NM_000238.3(KCNH2):c.1341C>T (p.Tyr447=) rs367570298
NM_000238.3(KCNH2):c.1342G>T (p.Ala448Ser) rs767723985
NM_000238.3(KCNH2):c.135C>A (p.Asn45Lys) rs1422251865
NM_000238.3(KCNH2):c.1372A>T (p.Ile458Phe) rs374303744
NM_000238.3(KCNH2):c.1374C>T (p.Ile458=) rs764322241
NM_000238.3(KCNH2):c.1379del (p.Asp460fs)
NM_000238.3(KCNH2):c.1397A>T (p.Asp466Val)
NM_000238.3(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924
NM_000238.3(KCNH2):c.1467C>A (p.Ile489=) rs740952
NM_000238.3(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.3(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_000238.3(KCNH2):c.146_147delinsAA (p.Cys49Ter)
NM_000238.3(KCNH2):c.1475A>T (p.His492Leu) rs1563160015
NM_000238.3(KCNH2):c.1477T>C (p.Tyr493His)
NM_000238.3(KCNH2):c.1479C>A (p.Tyr493Ter) rs878853771
NM_000238.3(KCNH2):c.1479C>T (p.Tyr493=) rs878853771
NM_000238.3(KCNH2):c.1500C>A (p.Ile500=) rs147126965
NM_000238.3(KCNH2):c.1500C>T (p.Ile500=) rs147126965
NM_000238.3(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_000238.3(KCNH2):c.1512C>T (p.Ala504=) rs41311003
NM_000238.3(KCNH2):c.1516A>G (p.Ile506Val)
NM_000238.3(KCNH2):c.1519C>G (p.Pro507Ala)
NM_000238.3(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.3(KCNH2):c.1528C>T (p.Leu510=) rs75648145
NM_000238.3(KCNH2):c.1537T>C (p.Phe513Leu) rs1563159718
NM_000238.3(KCNH2):c.1539C>T (p.Phe513=) rs1805120
NM_000238.3(KCNH2):c.154del (p.Cys52fs) rs794728508
NM_000238.3(KCNH2):c.1551T>C (p.Ser517=) rs770283713
NM_000238.3(KCNH2):c.1558-5C>T rs114186001
NM_000238.3(KCNH2):c.1558-6C>T rs777107971
NM_000238.3(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.3(KCNH2):c.1567C>A (p.Leu523Met) rs1060500671
NM_000238.3(KCNH2):c.1581G>A (p.Ala527=) rs150275982
NM_000238.3(KCNH2):c.1582C>T (p.Arg528Trp) rs864622403
NM_000238.3(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.3(KCNH2):c.1600C>A (p.Arg534Ser) rs199472916
NM_000238.3(KCNH2):c.1600C>T (p.Arg534Cys) rs199472916
NM_000238.3(KCNH2):c.1602C>T (p.Arg534=) rs369102529
NM_000238.3(KCNH2):c.1603G>A (p.Val535Met) rs375872367
NM_000238.3(KCNH2):c.1603G>T (p.Val535Leu)
NM_000238.3(KCNH2):c.1608G>A (p.Ala536=) rs144925439
NM_000238.3(KCNH2):c.1611G>T (p.Arg537=)
NM_000238.3(KCNH2):c.1612A>G (p.Lys538Glu) rs886062088
NM_000238.3(KCNH2):c.1635C>T (p.Tyr545=) rs200692436
NM_000238.3(KCNH2):c.1638C>T (p.Gly546=)
NM_000238.3(KCNH2):c.1639G>A (p.Ala547Thr)
NM_000238.3(KCNH2):c.1641G>A (p.Ala547=) rs149902084
NM_000238.3(KCNH2):c.1644C>T (p.Ala548=) rs370764268
NM_000238.3(KCNH2):c.1655T>A (p.Leu552Ter)
NM_000238.3(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918
NM_000238.3(KCNH2):c.1661T>C (p.Met554Thr)
NM_000238.3(KCNH2):c.1676T>C (p.Leu559Pro)
NM_000238.3(KCNH2):c.167G>A (p.Arg56Gln) rs199472845
NM_000238.3(KCNH2):c.167G>T (p.Arg56Leu) rs199472845
NM_000238.3(KCNH2):c.1680C>T (p.Ile560=) rs372725107
NM_000238.3(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.3(KCNH2):c.1683G>A (p.Ala561=) rs140366118
NM_000238.3(KCNH2):c.1684C>T (p.His562Tyr) rs794728481
NM_000238.3(KCNH2):c.1685A>G (p.His562Arg) rs199472922
NM_000238.3(KCNH2):c.1689G>A (p.Trp563Ter) rs199473517
NM_000238.3(KCNH2):c.1691T>A (p.Leu564Gln)
NM_000238.3(KCNH2):c.1692A>G (p.Leu564=) rs1805121
NM_000238.3(KCNH2):c.1695del (p.Cys566fs) rs1060500661
NM_000238.3(KCNH2):c.169G>A (p.Ala57Thr)
NM_000238.3(KCNH2):c.1700T>C (p.Ile567Thr) rs199473519
NM_000238.3(KCNH2):c.1701del (p.Trp568fs) rs794728440
NM_000238.3(KCNH2):c.1703G>C (p.Trp568Ser) rs1554425880
NM_000238.3(KCNH2):c.1704G>C (p.Trp568Cys) rs199472926
NM_000238.3(KCNH2):c.1711A>G (p.Ile571Val) rs199472928
NM_000238.3(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000238.3(KCNH2):c.1726delinsTGTTGGCGTG (p.Gln576delinsCysTrpArgGlu)
NM_000238.3(KCNH2):c.172G>A (p.Glu58Lys) rs199473413
NM_000238.3(KCNH2):c.1742C>T (p.Ser581Leu)
NM_000238.3(KCNH2):c.1744C>T (p.Arg582Cys) rs121912508
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.3(KCNH2):c.1750G>T (p.Gly584Cys) rs199473428
NM_000238.3(KCNH2):c.1755G>C (p.Trp585Cys)
NM_000238.3(KCNH2):c.1770C>T (p.Gly590=) rs369187892
NM_000238.3(KCNH2):c.1778T>A (p.Ile593Lys) rs28928904
NM_000238.3(KCNH2):c.177G>A (p.Val59=) rs753837732
NM_000238.3(KCNH2):c.1790A>G (p.Tyr597Cys) rs199472934
NM_000238.3(KCNH2):c.1800C>T (p.Ser600=) rs143518632
NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.3(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.3(KCNH2):c.1808G>A (p.Gly603Asp) rs1554425806
NM_000238.3(KCNH2):c.1809C>T (p.Gly603=) rs41314375
NM_000238.3(KCNH2):c.1810G>A (p.Gly604Ser) rs199473522
NM_000238.3(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_000238.3(KCNH2):c.1825G>A (p.Asp609Asn) rs199472941
NM_000238.3(KCNH2):c.1826A>C (p.Asp609Ala) rs199472940
NM_000238.3(KCNH2):c.1831T>G (p.Tyr611Asp) rs199472942
NM_000238.3(KCNH2):c.1836G>A (p.Val612=) rs1554425781
NM_000238.3(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.3(KCNH2):c.1839G>A (p.Thr613=) rs146309583
NM_000238.3(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.3(KCNH2):c.1842G>A (p.Ala614=) rs746863761
NM_000238.3(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.3(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_000238.3(KCNH2):c.1864C>T (p.Leu622Phe) rs199473525
NM_000238.3(KCNH2):c.1870A>T (p.Ser624Cys)
NM_000238.3(KCNH2):c.1881C>T (p.Phe627=) rs199473039
NM_000238.3(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.3(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla) rs1563156461
NM_000238.3(KCNH2):c.1886A>C (p.Asn629Thr) rs199472957
NM_000238.3(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_000238.3(KCNH2):c.1888G>A (p.Val630Ile) rs199472958
NM_000238.3(KCNH2):c.188C>A (p.Pro63His) rs766379103
NM_000238.3(KCNH2):c.1892C>T (p.Ser631Phe) rs1554425720
NM_000238.3(KCNH2):c.1893T>G (p.Ser631=) rs1554425717
NM_000238.3(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.3(KCNH2):c.1904A>G (p.Asn635Ser)
NM_000238.3(KCNH2):c.1909G>A (p.Glu637Lys) rs199472968
NM_000238.3(KCNH2):c.1910_1912AGA[1] (p.Lys638del) rs794728442
NM_000238.3(KCNH2):c.1922C>T (p.Ser641Phe) rs199472971
NM_000238.3(KCNH2):c.1923C>T (p.Ser641=) rs142249065
NM_000238.3(KCNH2):c.1929C>T (p.Cys643=) rs755698372
NM_000238.3(KCNH2):c.1945+6T>C rs794728380
NM_000238.3(KCNH2):c.1946-9C>T rs367997739
NM_000238.3(KCNH2):c.194C>G (p.Thr65Ser) rs878853772
NM_000238.3(KCNH2):c.1956T>C (p.Tyr652=) rs1137617
NM_000238.3(KCNH2):c.1963A>G (p.Ile655Val) rs1060500673
NM_000238.3(KCNH2):c.1965C>A (p.Ile655=) rs774672362
NM_000238.3(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.3(KCNH2):c.196T>C (p.Cys66Arg) rs199473416
NM_000238.3(KCNH2):c.1973A>G (p.Asn658Ser) rs1057523338
NM_000238.3(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_000238.3(KCNH2):c.1980G>A (p.Ser660=) rs774258761
NM_000238.3(KCNH2):c.2000dup (p.Tyr667Ter) rs1554425527
NM_000238.3(KCNH2):c.2006G>C (p.Gly669Ala)
NM_000238.3(KCNH2):c.2033T>C (p.Leu678Pro) rs199472981
NM_000238.3(KCNH2):c.2035C>T (p.Arg679Trp)
NM_000238.3(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438
NM_000238.3(KCNH2):c.2062C>T (p.Gln688Ter) rs1554425486
NM_000238.3(KCNH2):c.206T>A (p.Leu69Gln) rs199473665
NM_000238.3(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_000238.3(KCNH2):c.2080C>T (p.Arg694Cys)
NM_000238.3(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_000238.3(KCNH2):c.2086C>T (p.Arg696Cys) rs199472984
NM_000238.3(KCNH2):c.2091C>T (p.Leu697=) rs968886132
NM_000238.3(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_000238.3(KCNH2):c.2122A>G (p.Thr708Ala) rs1554425463
NM_000238.3(KCNH2):c.2127C>T (p.Asn709=) rs768572372
NM_000238.3(KCNH2):c.2128G>A (p.Gly710Ser)
NM_000238.3(KCNH2):c.2131A>G (p.Ile711Val) rs199473532
NM_000238.3(KCNH2):c.2145+10C>G rs746696683
NM_000238.3(KCNH2):c.2145+1G>A rs886039385
NM_000238.3(KCNH2):c.2145+9A>T rs371749379
NM_000238.3(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000238.3(KCNH2):c.2146-3_2146-1delCAGinsAA rs1554425320
NM_000238.3(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.3(KCNH2):c.215C>G (p.Pro72Arg) rs199473421
NM_000238.3(KCNH2):c.2162C>T (p.Pro721Leu) rs199472986
NM_000238.3(KCNH2):c.2171T>C (p.Leu724Pro) rs1554425307
NM_000238.3(KCNH2):c.2180_2317del (p.Asp727_Ala772del) rs1554425226
NM_000238.3(KCNH2):c.2204C>T (p.Ser735Leu) rs199472988
NM_000238.3(KCNH2):c.2216A>G (p.His739Arg) rs869025446
NM_000238.3(KCNH2):c.2218dup (p.Cys740fs) rs1554425284
NM_000238.3(KCNH2):c.221C>T (p.Thr74Met) rs199473422
NM_000238.3(KCNH2):c.221_251del (p.Thr74fs) rs1554430908
NM_000238.3(KCNH2):c.2222A>G (p.Lys741Arg)
NM_000238.3(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.3(KCNH2):c.2236G>T (p.Ala746Ser) rs751681463
NM_000238.3(KCNH2):c.2238C>G (p.Ala746=) rs765110115
NM_000238.3(KCNH2):c.2245G>T (p.Gly749Cys) rs1060500668
NM_000238.3(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_000238.3(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_000238.3(KCNH2):c.2257del (p.Ala753fs)
NM_000238.3(KCNH2):c.2265C>T (p.Ala755=) rs144308070
NM_000238.3(KCNH2):c.2291C>T (p.Pro764Leu) rs878853773
NM_000238.3(KCNH2):c.2312A>G (p.His771Arg) rs1060500659
NM_000238.3(KCNH2):c.2331C>T (p.Thr777=) rs41307292
NM_000238.3(KCNH2):c.2343C>T (p.Phe781=) rs886039215
NM_000238.3(KCNH2):c.234_250dup (p.Gln84fs)
NM_000238.3(KCNH2):c.2351_2352inv (p.Arg784Pro)
NM_000238.3(KCNH2):c.235G>T (p.Ala79Ser) rs794728494
NM_000238.3(KCNH2):c.2360T>A (p.Ile787Asn) rs794728387
NM_000238.3(KCNH2):c.2361C>T (p.Ile787=) rs147635827
NM_000238.3(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_000238.3(KCNH2):c.2362_2363GA[3] (p.Ile789fs) rs1060500662
NM_000238.3(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_000238.3(KCNH2):c.2376C>T (p.Gly792=) rs745993706
NM_000238.3(KCNH2):c.2379C>T (p.Asp793=) rs147507005
NM_000238.3(KCNH2):c.237C>G (p.Ala79=) rs1060503994
NM_000238.3(KCNH2):c.2382C>T (p.Val794=) rs777801910
NM_000238.3(KCNH2):c.2399-3C>T
NM_000238.3(KCNH2):c.2405A>G (p.Asn802Ser) rs863224632
NM_000238.3(KCNH2):c.240G>A (p.Ala80=) rs1554430915
NM_000238.3(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.3(KCNH2):c.243G>C (p.Gln81His) rs199472849
NM_000238.3(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.3(KCNH2):c.2454G>A (p.Ser818=) rs72549418
NM_000238.3(KCNH2):c.2464G>A (p.Val822Met) rs121912506
NM_000238.3(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_000238.3(KCNH2):c.2470del (p.Ala824fs) rs1064793434
NM_000238.3(KCNH2):c.247G>T (p.Ala83Ser)
NM_000238.3(KCNH2):c.249G>A (p.Ala83=) rs963871771
NM_000238.3(KCNH2):c.2508C>T (p.Asp836=) rs139295242
NM_000238.3(KCNH2):c.2509G>A (p.Asp837Asn) rs199473005
NM_000238.3(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.3(KCNH2):c.2530A>G (p.Met844Val)
NM_000238.3(KCNH2):c.2536C>T (p.Pro846Ser) rs199473006
NM_000238.3(KCNH2):c.2537C>T (p.Pro846Leu) rs1060500669
NM_000238.3(KCNH2):c.253G>A (p.Ala85Thr) rs199472850
NM_000238.3(KCNH2):c.2577C>A (p.Thr859=) rs1060503993
NM_000238.3(KCNH2):c.2587C>T (p.Arg863Ter) rs773724817
NM_000238.3(KCNH2):c.2600T>C (p.Met867Thr)
NM_000238.3(KCNH2):c.2607G>A (p.Pro869=) rs199828796
NM_000238.3(KCNH2):c.2616C>T (p.Pro872=) rs374296728
NM_000238.3(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354
NM_000238.3(KCNH2):c.2626G>A (p.Glu876Lys) rs1554424688
NM_000238.3(KCNH2):c.2653C>T (p.Arg885Cys) rs143512106
NM_000238.3(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.3(KCNH2):c.2657dup (p.Arg887fs) rs1554424671
NM_000238.3(KCNH2):c.2659C>T (p.Arg887Cys) rs140279503
NM_000238.3(KCNH2):c.2660G>A (p.Arg887His) rs199473432
NM_000238.3(KCNH2):c.2665T>G (p.Leu889Val) rs765427343
NM_000238.3(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778
NM_000238.3(KCNH2):c.2680C>T (p.Arg894Cys) rs199473433
NM_000238.3(KCNH2):c.2684C>T (p.Thr895Met) rs199473434
NM_000238.3(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123
NM_000238.3(KCNH2):c.2690delinsCGACAC (p.Lys897fs)
NM_000238.3(KCNH2):c.2692+7C>G rs372023163
NM_000238.3(KCNH2):c.2692+7C>T
NM_000238.3(KCNH2):c.2692+8G>A rs200032281
NM_000238.3(KCNH2):c.2693-5C>T rs1060503992
NM_000238.3(KCNH2):c.2694_2699dup (p.Asp898_Thr899dup) rs1399804251
NM_000238.3(KCNH2):c.2696C>G (p.Thr899Arg) rs1480554629
NM_000238.3(KCNH2):c.26C>T (p.Ala9Val) rs775317201
NM_000238.3(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669
NM_000238.3(KCNH2):c.2711A>G (p.Glu904Gly)
NM_000238.3(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435
NM_000238.3(KCNH2):c.2724_2728dup (p.Pro910fs) rs794728449
NM_000238.3(KCNH2):c.2729C>T (p.Pro910Leu) rs199473436
NM_000238.3(KCNH2):c.2729_2733CGGGC[1] (p.Arg912fs) rs794728502
NM_000238.3(KCNH2):c.2730G>A (p.Pro910=) rs916754925
NM_000238.3(KCNH2):c.2734C>T (p.Arg912Trp) rs577847157
NM_000238.3(KCNH2):c.2735G>A (p.Arg912Gln) rs958442820
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2739G>A (p.Ala913=) rs776097223
NM_000238.3(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733
NM_000238.3(KCNH2):c.2758C>G (p.Arg920Gly) rs199473438
NM_000238.3(KCNH2):c.2758C>T (p.Arg920Trp) rs199473438
NM_000238.3(KCNH2):c.2762del (p.Gly921fs)
NM_000238.3(KCNH2):c.2765G>A (p.Arg922Gln) rs199473439
NM_000238.3(KCNH2):c.2768C>T (p.Pro923Leu)
NM_000238.3(KCNH2):c.2769G>A (p.Pro923=) rs557789224
NM_000238.3(KCNH2):c.2769G>C (p.Pro923=) rs557789224
NM_000238.3(KCNH2):c.2770G>A (p.Gly924Arg) rs794728397
NM_000238.3(KCNH2):c.2770G>T (p.Gly924Trp) rs794728397
NM_000238.3(KCNH2):c.2771G>A (p.Gly924Glu) rs199473009
NM_000238.3(KCNH2):c.2771G>C (p.Gly924Ala) rs199473009
NM_000238.3(KCNH2):c.2774G>T (p.Gly925Val) rs794728398
NM_000238.3(KCNH2):c.2775dup (p.Pro926fs) rs794728455
NM_000238.3(KCNH2):c.2778G>A (p.Pro926=) rs898987242
NM_000238.3(KCNH2):c.2778G>T (p.Pro926=) rs898987242
NM_000238.3(KCNH2):c.2780G>A (p.Trp927Ter) rs794728399
NM_000238.3(KCNH2):c.2780G>T (p.Trp927Leu) rs794728399
NM_000238.3(KCNH2):c.2785dup (p.Glu929fs) rs794728458
NM_000238.3(KCNH2):c.278A>G (p.Lys93Arg) rs780197027
NM_000238.3(KCNH2):c.2792C>T (p.Pro931Leu)
NM_000238.3(KCNH2):c.27G>T (p.Ala9=) rs863224336
NM_000238.3(KCNH2):c.2810G>A (p.Ser937Asn) rs199473540
NM_000238.3(KCNH2):c.281T>G (p.Val94Gly) rs199472852
NM_000238.3(KCNH2):c.2832G>T (p.Glu944Asp) rs1232364499
NM_000238.3(KCNH2):c.2843G>A (p.Arg948His) rs199473011
NM_000238.3(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000238.3(KCNH2):c.2861G>A (p.Arg954His) rs772977598
NM_000238.3(KCNH2):c.2863C>G (p.Leu955Val) rs199473012
NM_000238.3(KCNH2):c.2876C>G (p.Ser959Cys)
NM_000238.3(KCNH2):c.2876C>T (p.Ser959Phe)
NM_000238.3(KCNH2):c.2889C>T (p.Pro963=) rs749814759
NM_000238.3(KCNH2):c.2890C>G (p.Pro964Ala) rs886062087
NM_000238.3(KCNH2):c.2900C>T (p.Pro967Leu) rs199473016
NM_000238.3(KCNH2):c.2900dup (p.Pro968fs) rs786204101
NM_000238.3(KCNH2):c.2901G>A (p.Pro967=) rs780481239
NM_000238.3(KCNH2):c.2901G>T (p.Pro967=) rs780481239
NM_000238.3(KCNH2):c.2902C>G (p.Pro968Ala) rs753788508
NM_000238.3(KCNH2):c.2904G>A (p.Pro968=) rs75005975
NM_000238.3(KCNH2):c.2930G>T (p.Cys977Phe) rs767252448
NM_000238.3(KCNH2):c.2931C>A (p.Cys977Ter)
NM_000238.3(KCNH2):c.2932G>A (p.Glu978Lys) rs141117135
NM_000238.3(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554
NM_000238.3(KCNH2):c.2944G>A (p.Asp982Asn) rs569452580
NM_000238.3(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375
NM_000238.3(KCNH2):c.2954A>G (p.Asn985Ser) rs199473541
NM_000238.3(KCNH2):c.2956C>A (p.Pro986Thr)
NM_000238.3(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.3(KCNH2):c.2965+7C>T rs754828103
NM_000238.3(KCNH2):c.2967C>A (p.Gly989=) rs759887868
NM_000238.3(KCNH2):c.2994C>T (p.Phe998=) rs368954514
NM_000238.3(KCNH2):c.299G>T (p.Arg100Leu)
NM_000238.3(KCNH2):c.3002G>A (p.Trp1001Ter) rs794728401
NM_000238.3(KCNH2):c.3007G>A (p.Asp1003Asn) rs794728402
NM_000238.3(KCNH2):c.3017del (p.Gly1006fs) rs794728504
NM_000238.3(KCNH2):c.3020G>A (p.Arg1007His) rs199473542
NM_000238.3(KCNH2):c.3027C>G (p.Tyr1009Ter) rs1057520558
NM_000238.3(KCNH2):c.3040C>T (p.Arg1014Ter) rs794728403
NM_000238.3(KCNH2):c.3049G>T (p.Ala1017Ser)
NM_000238.3(KCNH2):c.3053C>T (p.Pro1018Leu)
NM_000238.3(KCNH2):c.3054del (p.Thr1019fs) rs1554424138
NM_000238.3(KCNH2):c.3058C>T (p.Pro1020Ser) rs41307274
NM_000238.3(KCNH2):c.3060del (p.Ser1021fs) rs864622174
NM_000238.3(KCNH2):c.3061A>G (p.Ser1021Gly) rs1563146032
NM_000238.3(KCNH2):c.3063C>T (p.Ser1021=) rs199767579
NM_000238.3(KCNH2):c.307+2T>A rs796052196
NM_000238.3(KCNH2):c.307+4G>A
NM_000238.3(KCNH2):c.308-2A>G rs1057520598
NM_000238.3(KCNH2):c.3087_3096delinsGC (p.Ser1029fs) rs1554424085
NM_000238.3(KCNH2):c.3090_3102del (p.Arg1032fs) rs1554424070
NM_000238.3(KCNH2):c.3092_3096dup (p.Arg1033fs) rs1554424083
NM_000238.3(KCNH2):c.3094C>T (p.Arg1032Trp)
NM_000238.3(KCNH2):c.3094del (p.Arg1032fs) rs864622309
NM_000238.3(KCNH2):c.3095G>A (p.Arg1032Gln) rs199473020
NM_000238.3(KCNH2):c.3097C>T (p.Arg1033Trp) rs199473021
NM_000238.3(KCNH2):c.3097_3098dup (p.Pro1034fs) rs1554424079
NM_000238.3(KCNH2):c.3098G>A (p.Arg1033Gln) rs750858069
NM_000238.3(KCNH2):c.3099_3109del (p.Pro1034fs) rs794728466
NM_000238.3(KCNH2):c.3099_3109dup (p.Asp1037fs) rs794728466
NM_000238.3(KCNH2):c.3100_3106dup (p.Gly1036fs) rs1554424062
NM_000238.3(KCNH2):c.3103C>T (p.Arg1035Trp) rs199473543
NM_000238.3(KCNH2):c.3103del (p.Arg1035fs) rs794728468
NM_000238.3(KCNH2):c.3104G>A (p.Arg1035Gln) rs761933920
NM_000238.3(KCNH2):c.3105_3112dup (p.Val1038fs) rs794728470
NM_000238.3(KCNH2):c.3107G>A (p.Gly1036Asp) rs199473022
NM_000238.3(KCNH2):c.3107_3127del (p.Gly1036_Leu1042del) rs1064792917
NM_000238.3(KCNH2):c.3107del (p.Gly1036fs) rs794728469
NM_000238.3(KCNH2):c.3107dup (p.Asp1037fs) rs794728469
NM_000238.3(KCNH2):c.3108C>T (p.Gly1036=) rs373414022
NM_000238.3(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.3(KCNH2):c.3112G>A (p.Val1038Met) rs199473544
NM_000238.3(KCNH2):c.3112G>T (p.Val1038Leu) rs199473544
NM_000238.3(KCNH2):c.312C>G (p.Ser104Arg) rs1554428245
NM_000238.3(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025
NM_000238.3(KCNH2):c.3139C>T (p.Arg1047Cys) rs377095107
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.3152+12C>A rs72549420
NM_000238.3(KCNH2):c.3153-13C>T rs372337645
NM_000238.3(KCNH2):c.3153-3C>T rs1165322354
NM_000238.3(KCNH2):c.3153-4C>T rs181119727
NM_000238.3(KCNH2):c.3161C>T (p.Thr1054Ile) rs1554423904
NM_000238.3(KCNH2):c.3163C>T (p.Arg1055Trp) rs541259035
NM_000238.3(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270
NM_000238.3(KCNH2):c.3167dup (p.Ser1057fs)
NM_000238.3(KCNH2):c.3172G>A (p.Ala1058Thr) rs555269990
NM_000238.3(KCNH2):c.3185C>T (p.Thr1062Ile)
NM_000238.3(KCNH2):c.3203A>G (p.Gln1068Arg) rs151031345
NM_000238.3(KCNH2):c.3215C>T (p.Thr1072Met) rs781624566
NM_000238.3(KCNH2):c.3216G>A (p.Thr1072=) rs200182770
NM_000238.3(KCNH2):c.3224C>T (p.Pro1075Leu) rs199473028
NM_000238.3(KCNH2):c.3225_3231del (p.Pro1076fs)
NM_000238.3(KCNH2):c.3228C>T (p.Pro1076=) rs41312087
NM_000238.3(KCNH2):c.3229G>A (p.Ala1077Thr) rs201382073
NM_000238.3(KCNH2):c.3233A>G (p.Tyr1078Cys) rs199473029
NM_000238.3(KCNH2):c.3251C>T (p.Pro1084Leu) rs762510312
NM_000238.3(KCNH2):c.3279G>A (p.Pro1093=) rs202198564
NM_000238.3(KCNH2):c.3279_3303del (p.Leu1094fs) rs1554423720
NM_000238.3(KCNH2):c.3286C>A (p.Pro1096Thr) rs1554423737
NM_000238.3(KCNH2):c.3289G>A (p.Val1097Ile) rs199473030
NM_000238.3(KCNH2):c.3296C>T (p.Pro1099Leu) rs1339742380
NM_000238.3(KCNH2):c.3301C>T (p.Pro1101Ser) rs1347039291
NM_000238.3(KCNH2):c.3321G>A (p.Ser1107=) rs189457419
NM_000238.3(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.3(KCNH2):c.3348G>A (p.Ala1116=) rs376180501
NM_000238.3(KCNH2):c.3350G>T (p.Cys1117Phe)
NM_000238.3(KCNH2):c.3355G>C (p.Glu1119Gln) rs199473033
NM_000238.3(KCNH2):c.3358C>G (p.Leu1120Val)
NM_000238.3(KCNH2):c.3365C>T (p.Pro1122Leu) rs531460655
NM_000238.3(KCNH2):c.3390A>G (p.Glu1130=) rs41313068
NM_000238.3(KCNH2):c.3394C>G (p.Pro1132Ala) rs786205422
NM_000238.3(KCNH2):c.3416C>T (p.Pro1139Leu) rs886062086
NM_000238.3(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572
NM_000238.3(KCNH2):c.343G>A (p.Val115Met) rs150988911
NM_000238.3(KCNH2):c.3448C>A (p.Leu1150Met) rs754883792
NM_000238.3(KCNH2):c.3451_3452CA[1] (p.His1151fs) rs1554423346
NM_000238.3(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035
NM_000238.3(KCNH2):c.3459C>T (p.His1153=) rs755599756
NM_000238.3(KCNH2):c.345_347GAA[1] (p.Lys116del) rs864622157
NM_000238.3(KCNH2):c.3460G>A (p.Gly1154Ser) rs199473548
NM_000238.3(KCNH2):c.3464C>T (p.Ser1155Leu)
NM_000238.3(KCNH2):c.3465G>A (p.Ser1155=) rs750145862
NM_000238.3(KCNH2):c.3469C>T (p.Pro1157Ser) rs1449906095
NM_000238.3(KCNH2):c.3471G>A (p.Pro1157=)
NM_000238.3(KCNH2):c.351C>T (p.Asn117=) rs757132095
NM_000238.3(KCNH2):c.355G>C (p.Asp119His) rs376308069
NM_000238.3(KCNH2):c.36C>T (p.Asn12=) rs372029645
NM_000238.3(KCNH2):c.383A>G (p.Asn128Ser) rs200343670
NM_000238.3(KCNH2):c.388G>A (p.Glu130Lys) rs199472863
NM_000238.3(KCNH2):c.402del (p.Lys135fs) rs1060500670
NM_000238.3(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.3(KCNH2):c.423G>A (p.Pro141=) rs148483769
NM_000238.3(KCNH2):c.431A>T (p.Asp144Val) rs146284716
NM_000238.3(KCNH2):c.432C>T (p.Asp144=) rs369314508
NM_000238.3(KCNH2):c.440A>G (p.His147Arg) rs768938134
NM_000238.3(KCNH2):c.441C>T (p.His147=) rs143479939
NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.3(KCNH2):c.443G>A (p.Arg148Gln)
NM_000238.3(KCNH2):c.446G>C (p.Gly149Ala) rs199472865
NM_000238.3(KCNH2):c.451C>G (p.Pro151Ala) rs1060500674
NM_000238.3(KCNH2):c.453C>G (p.Pro151=) rs1408538509
NM_000238.3(KCNH2):c.453dup (p.Thr152fs) rs761863251
NM_000238.3(KCNH2):c.461G>A (p.Trp154Ter) rs1554428173
NM_000238.3(KCNH2):c.470del (p.Pro157fs) rs1554428170
NM_000238.3(KCNH2):c.473-7C>T rs146570628
NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs) rs863224478
NM_000238.3(KCNH2):c.491G>A (p.Arg164His) rs199472866
NM_000238.3(KCNH2):c.512_536del (p.Leu171fs) rs1554427943
NM_000238.3(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_000238.3(KCNH2):c.523G>A (p.Ala175Thr) rs1296505812
NM_000238.3(KCNH2):c.524C>A (p.Ala175Asp) rs776541110
NM_000238.3(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000238.3(KCNH2):c.542G>A (p.Arg181Gln) rs41308954
NM_000238.3(KCNH2):c.545C>A (p.Ser182Ter) rs1057517742
NM_000238.3(KCNH2):c.545C>G (p.Ser182Trp) rs1057517742
NM_000238.3(KCNH2):c.551_559GCGCGGGCG[1] (p.184_186GAG[1]) rs551056698
NM_000238.3(KCNH2):c.551_559GCGCGGGCG[3] (p.184_186GAG[3]) rs551056698
NM_000238.3(KCNH2):c.555_569del (p.Gly186_Ala190del) rs1554427907
NM_000238.3(KCNH2):c.558C>T (p.Gly186=) rs139533994
NM_000238.3(KCNH2):c.55A>T (p.Ile19Phe) rs1554431444
NM_000238.3(KCNH2):c.563C>T (p.Ala188Val) rs794728356
NM_000238.3(KCNH2):c.568G>A (p.Ala190Thr) rs150817714
NM_000238.3(KCNH2):c.580G>A (p.Val194Met)
NM_000238.3(KCNH2):c.603G>A (p.Thr201=) rs756435622
NM_000238.3(KCNH2):c.607G>A (p.Ala203Thr) rs199472868
NM_000238.3(KCNH2):c.613C>T (p.Pro205Ser)
NM_000238.3(KCNH2):c.617_618delinsTT (p.Ser206Ile) rs1060500660
NM_000238.3(KCNH2):c.621C>T (p.Ser207=) rs41314417
NM_000238.3(KCNH2):c.647C>T (p.Thr216Ile) rs1563170569
NM_000238.3(KCNH2):c.652A>G (p.Met218Val) rs199472869
NM_000238.3(KCNH2):c.655G>A (p.Asp219Asn)
NM_000238.3(KCNH2):c.663C>G (p.His221Gln)
NM_000238.3(KCNH2):c.665_669delinsC (p.Val222fs) rs1085307620
NM_000238.3(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_000238.3(KCNH2):c.675C>G (p.Leu225=) rs760401552
NM_000238.3(KCNH2):c.682G>C (p.Ala228Pro) rs989191027
NM_000238.3(KCNH2):c.683C>T (p.Ala228Val)
NM_000238.3(KCNH2):c.685G>T (p.Glu229Ter) rs730880116
NM_000238.3(KCNH2):c.697G>T (p.Ala233Ser) rs772037564
NM_000238.3(KCNH2):c.699G>A (p.Ala233=) rs1242612823
NM_000238.3(KCNH2):c.707G>T (p.Gly236Val) rs199472870
NM_000238.3(KCNH2):c.710C>A (p.Pro237His) rs1554427821
NM_000238.3(KCNH2):c.720G>A (p.Pro240=) rs899939755
NM_000238.3(KCNH2):c.724C>T (p.Arg242Cys)
NM_000238.3(KCNH2):c.725_726delinsAA (p.Arg242Gln) rs1554427803
NM_000238.3(KCNH2):c.729C>G (p.Ser243Arg)
NM_000238.3(KCNH2):c.729C>T (p.Ser243=) rs863224337
NM_000238.3(KCNH2):c.731C>T (p.Ala244Val) rs748762712
NM_000238.3(KCNH2):c.732G>T (p.Ala244=) rs1255299868
NM_000238.3(KCNH2):c.735C>A (p.Pro245=) rs1361757645
NM_000238.3(KCNH2):c.735_754dup (p.Arg252fs) rs794728425
NM_000238.3(KCNH2):c.751C>T (p.Pro251Ser) rs199472873
NM_000238.3(KCNH2):c.755G>A (p.Arg252Gln) rs730880117
NM_000238.3(KCNH2):c.76+8G>A rs755499118
NM_000238.3(KCNH2):c.76_76+1delAG rs1563193513
NM_000238.3(KCNH2):c.77-3_77-2dupTA rs1554431003
NM_000238.3(KCNH2):c.77-5C>A rs72549419
NM_000238.3(KCNH2):c.77-5C>G rs72549419
NM_000238.3(KCNH2):c.77-5C>T rs72549419
NM_000238.3(KCNH2):c.775G>A (p.Asp259Asn) rs199472876
NM_000238.3(KCNH2):c.777C>T (p.Asp259=) rs887354896
NM_000238.3(KCNH2):c.778G>C (p.Ala260Pro) rs1220897906
NM_000238.3(KCNH2):c.779C>T (p.Ala260Val) rs1228602666
NM_000238.3(KCNH2):c.817C>A (p.Arg273=) rs552583527
NM_000238.3(KCNH2):c.823A>C (p.Ser275Arg) rs1268162009
NM_000238.3(KCNH2):c.84del (p.Lys28fs)
NM_000238.3(KCNH2):c.853G>A (p.Ala285Thr) rs864622366
NM_000238.3(KCNH2):c.853G>T (p.Ala285Ser) rs864622366
NM_000238.3(KCNH2):c.865G>A (p.Glu289Lys) rs199472880
NM_000238.3(KCNH2):c.868G>T (p.Ala290Ser) rs532891158
NM_000238.3(KCNH2):c.872T>C (p.Met291Thr) rs199472881
NM_000238.3(KCNH2):c.872T>G (p.Met291Arg) rs199472881
NM_000238.3(KCNH2):c.879C>T (p.Ala293=) rs987421968
NM_000238.3(KCNH2):c.881G>T (p.Gly294Val) rs199473549
NM_000238.3(KCNH2):c.889C>T (p.Pro297Ser) rs199472882
NM_000238.3(KCNH2):c.896C>T (p.Pro299Leu)
NM_000238.3(KCNH2):c.897A>G (p.Pro299=) rs886062090
NM_000238.3(KCNH2):c.89T>C (p.Ile30Thr) rs199472832
NM_000238.3(KCNH2):c.910_916+11delAGCACCGGTGAGGGCGCC rs1563169296
NM_000238.3(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000238.3(KCNH2):c.916G>T (p.Gly306Trp) rs199472884
NM_000238.3(KCNH2):c.925C>T (p.His309Tyr) rs1241849013
NM_000238.3(KCNH2):c.927C>T (p.His309=) rs775056804
NM_000238.3(KCNH2):c.930A>G (p.Pro310=) rs745496986
NM_000238.3(KCNH2):c.934C>T (p.Arg312Cys) rs199472885
NM_000238.3(KCNH2):c.935G>A (p.Arg312His) rs747313232
NM_000238.3(KCNH2):c.93C>T (p.Ile31=) rs745885744
NM_000238.3(KCNH2):c.950A>G (p.Asn317Ser) rs779027664
NM_000238.3(KCNH2):c.961G>T (p.Asp321Tyr) rs886062089
NM_000238.3(KCNH2):c.967G>A (p.Asp323Asn) rs199472887
NM_000238.3(KCNH2):c.973G>A (p.Val325Met) rs149381387
NM_000238.3(KCNH2):c.977G>A (p.Arg326His)
NM_000238.3(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_000238.3(KCNH2):c.983G>A (p.Arg328His) rs747437736
NM_000238.3(KCNH2):c.985A>G (p.Thr329Ala)
NM_000238.3(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_000238.3(KCNH2):c.990T>C (p.Ile330=)
NM_172056.2(KCNH2):c.2399G>T (p.Gly800Val) rs794728391
NM_172056.2(KCNH2):c.2401A>G (p.Met801Val) rs1554425151
NM_172056.2(KCNH2):c.2403G>T (p.Met801Ile) rs1554425149
NM_172057.2(KCNH2):c.101C>T (p.Ala34Val) rs1031478932
NM_172057.2(KCNH2):c.108G>C (p.Glu36Asp) rs1060500666
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872
NM_172057.2(KCNH2):c.5C>T (p.Ala2Val) rs1060500667
NM_172057.2(KCNH2):c.62G>A (p.Gly21Asp) rs1167016668
NM_172057.2(KCNH2):c.65G>A (p.Arg22Gln) rs780068180
NM_172057.2(KCNH2):c.73C>T (p.Arg25Trp)
NM_172057.2(KCNH2):c.81G>C (p.Val27=) rs990053814
NM_172057.2(KCNH2):c.84C>T (p.Arg28=) rs1554426874
NM_172057.2(KCNH2):c.96C>G (p.Leu32=) rs199698029
NM_172057.2(KCNH2):c.97G>A (p.Val33Met)
Single allele

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