ClinVar Miner

List of variants in gene KCNH2 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 328
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207 0.00025
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00019
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00003
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000238.4(KCNH2):c.1128+1810C>T rs972201049 0.00002
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651 0.00002
NM_000238.4(KCNH2):c.1189C>T (p.Arg397Cys) rs1060500663 0.00002
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu) rs759134380 0.00001
NM_000238.4(KCNH2):c.1128+1820_1128+1821del rs1064794494 0.00001
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu) rs199472899 0.00001
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu) rs199472902 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp) rs199472931 0.00001
NM_000238.4(KCNH2):c.188C>A (p.Pro63His) rs766379103 0.00001
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438 0.00001
NM_000238.4(KCNH2):c.2054G>A (p.Arg685His) rs758751607 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) rs199473534 0.00001
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441 0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538 0.00001
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) rs199473432 0.00001
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) rs794728449 0.00001
GRCh37/hg19 7q36.1(chr7:150642453-150656824)x1
NC_000007.13:g.(?_150644396)_(150649961_?)dup
NC_000007.13:g.(?_150644460)_(150650773_?)dup
NC_000007.14:g.150952854dup rs2486051757
NM_000238.3:c.(2692+1_2693-1)_(3330+1_3331-1)del
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter) rs1801410644
NM_000238.4(KCNH2):c.1048del (p.Ala350fs) rs1064793523
NM_000238.4(KCNH2):c.1093del (p.Glu365fs) rs2486081047
NM_000238.4(KCNH2):c.1102del (p.His368fs) rs1584863723
NM_000238.4(KCNH2):c.1128+1G>A rs1405113457
NM_000238.4(KCNH2):c.1128+1G>C rs1405113457
NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC rs2116997026
NM_000238.4(KCNH2):c.1129-831_3109dup
NM_000238.4(KCNH2):c.1132dup (p.Leu378fs) rs794728432
NM_000238.4(KCNH2):c.1139del (p.Leu380fs) rs1563161538
NM_000238.4(KCNH2):c.1164del (p.Glu387_Tyr388insTer) rs2486051098
NM_000238.4(KCNH2):c.119C>T (p.Ala40Val) rs794728407
NM_000238.4(KCNH2):c.1205A>G (p.His402Arg) rs199473506
NM_000238.4(KCNH2):c.1219A>G (p.Lys407Glu)
NM_000238.4(KCNH2):c.121G>C (p.Val41Leu) rs199472835
NM_000238.4(KCNH2):c.1230G>A (p.Trp410Ter)
NM_000238.4(KCNH2):c.1236G>A (p.Trp412Ter)
NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg) rs199472893
NM_000238.4(KCNH2):c.124A>T (p.Ile42Phe) rs1801940339
NM_000238.4(KCNH2):c.1262C>T (p.Thr421Met) rs199472894
NM_000238.4(KCNH2):c.1265C>A (p.Ala422Asp)
NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys) rs199472897
NM_000238.4(KCNH2):c.1282T>C (p.Ser428Pro) rs794728368
NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp) rs2116971776
NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu) rs1554426244
NM_000238.4(KCNH2):c.1293C>A (p.Phe431Leu) rs199472900
NM_000238.4(KCNH2):c.131G>A (p.Cys44Tyr) rs199473489
NM_000238.4(KCNH2):c.1342G>A (p.Ala448Thr) rs767723985
NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter) rs1563160541
NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys) rs794728409
NM_000238.4(KCNH2):c.1402dup (p.Leu468fs) rs869025448
NM_000238.4(KCNH2):c.1415G>A (p.Arg472His) rs794728369
NM_000238.4(KCNH2):c.1415G>C (p.Arg472Pro) rs794728369
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn) rs199472905
NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile) rs199472905
NM_000238.4(KCNH2):c.1421C>T (p.Thr474Ile) rs199472906
NM_000238.4(KCNH2):c.1423_1425del (p.Tyr475del) rs794728437
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val) rs1801214475
NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe) rs199472840
NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys) rs199472911
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_000238.4(KCNH2):c.1520C>T (p.Pro507Leu) rs794728372
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.1558-1G>C rs2116964889
NM_000238.4(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_000238.4(KCNH2):c.157G>T (p.Gly53Cys) rs199472842
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1592G>A (p.Arg531Gln) rs199473515
NM_000238.4(KCNH2):c.1592G>C (p.Arg531Pro)
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro) rs1801182500
NM_000238.4(KCNH2):c.1600C>A (p.Arg534Ser) rs199472916
NM_000238.4(KCNH2):c.160T>C (p.Tyr54His) rs199472843
NM_000238.4(KCNH2):c.1610G>A (p.Arg537Gln) rs794728373
NM_000238.4(KCNH2):c.161A>C (p.Tyr54Ser)
NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His) rs2486039696
NM_000238.4(KCNH2):c.162C>A (p.Tyr54Ter) rs1554430962
NM_000238.4(KCNH2):c.164C>T (p.Ser55Leu) rs199472844
NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg) rs2486039255
NM_000238.4(KCNH2):c.1664G>A (p.Cys555Tyr) rs1057517866
NM_000238.4(KCNH2):c.166C>T (p.Arg56Trp)
NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu) rs199472919
NM_000238.4(KCNH2):c.167G>A (p.Arg56Gln) rs199472845
NM_000238.4(KCNH2):c.167G>T (p.Arg56Leu) rs199472845
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr) rs794728481
NM_000238.4(KCNH2):c.1685A>C (p.His562Pro) rs199472922
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg) rs199472922
NM_000238.4(KCNH2):c.1686C>G (p.His562Gln) rs1057520477
NM_000238.4(KCNH2):c.1689G>C (p.Trp563Cys) rs199473517
NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln) rs199472924
NM_000238.4(KCNH2):c.1693G>C (p.Ala565Pro) rs199473518
NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly) rs794728482
NM_000238.4(KCNH2):c.1694C>T (p.Ala565Val) rs794728482
NM_000238.4(KCNH2):c.1701del (p.Trp568fs) rs794728440
NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys) rs199472926
NM_000238.4(KCNH2):c.1708G>T (p.Ala570Ser) rs1727086844
NM_000238.4(KCNH2):c.170C>T (p.Ala57Val) rs794728493
NM_000238.4(KCNH2):c.1711A>G (p.Ile571Val) rs199472928
NM_000238.4(KCNH2):c.1715G>C (p.Gly572Ala) rs199473423
NM_000238.4(KCNH2):c.1715G>T (p.Gly572Val) rs199473423
NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys) rs199473413
NM_000238.4(KCNH2):c.1738G>C (p.Asp580His) rs786205588
NM_000238.4(KCNH2):c.173A>G (p.Glu58Gly) rs199472847
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys) rs121912508
NM_000238.4(KCNH2):c.1745G>T (p.Arg582Leu) rs199473426
NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter) rs794728484
NM_000238.4(KCNH2):c.1754G>T (p.Trp585Leu) rs794728484
NM_000238.4(KCNH2):c.1764C>A (p.Asn588Lys) rs104894021
NM_000238.4(KCNH2):c.1764C>G (p.Asn588Lys) rs104894021
NM_000238.4(KCNH2):c.1766T>C (p.Leu589Pro)
NM_000238.4(KCNH2):c.176T>C (p.Val59Ala)
NM_000238.4(KCNH2):c.1777A>G (p.Ile593Val) rs199472930
NM_000238.4(KCNH2):c.1790A>G (p.Tyr597Cys) rs199472934
NM_000238.4(KCNH2):c.1802G>A (p.Gly601Asp) rs794728480
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.4(KCNH2):c.1810G>T (p.Gly604Cys)
NM_000238.4(KCNH2):c.1811G>T (p.Gly604Val) rs199472937
NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser) rs199472939
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu) rs2116960647
NM_000238.4(KCNH2):c.1831T>G (p.Tyr611Asp) rs199472942
NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala) rs794728485
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.1843C>G (p.Leu615Val) rs199472945
NM_000238.4(KCNH2):c.1843C>T (p.Leu615Phe) rs199472945
NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.4(KCNH2):c.1847_1855del (p.Tyr616_Thr618del) rs1554425762
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_000238.4(KCNH2):c.1851C>A (p.Phe617Leu) rs1057524595
NM_000238.4(KCNH2):c.1858A>G (p.Ser620Gly) rs2116960125
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn) rs199472948
NM_000238.4(KCNH2):c.1865T>A (p.Leu622His) rs2116960034
NM_000238.4(KCNH2):c.1868C>T (p.Thr623Ile) rs199472950
NM_000238.4(KCNH2):c.1873G>C (p.Val625Leu) rs1563156725
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_000238.4(KCNH2):c.1876G>A (p.Gly626Ser) rs199472953
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1882G>C (p.Gly628Arg) rs121912507
NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys) rs41307295
NM_000238.4(KCNH2):c.1888G>C (p.Val630Leu) rs199472958
NM_000238.4(KCNH2):c.1894C>G (p.Pro632Ala) rs199473527
NM_000238.4(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_000238.4(KCNH2):c.1900A>G (p.Thr634Ala) rs794728377
NM_000238.4(KCNH2):c.1904A>T (p.Asn635Ile) rs199472964
NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys) rs199472965
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) rs794728442
NM_000238.4(KCNH2):c.1911G>C (p.Glu637Asp) rs199472966
NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg) rs2486035570
NM_000238.4(KCNH2):c.1945+1G>A rs794728487
NM_000238.4(KCNH2):c.1945+1G>C rs794728487
NM_000238.4(KCNH2):c.1946-1G>A rs794728375
NM_000238.4(KCNH2):c.1946-4_1948del rs1801137678
NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg) rs1554425569
NM_000238.4(KCNH2):c.1964T>A (p.Ile655Asn)
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.4(KCNH2):c.1970G>T (p.Gly657Val) rs1085307943
NM_000238.4(KCNH2):c.1973A>G (p.Asn658Ser) rs1057523338
NM_000238.4(KCNH2):c.197G>A (p.Cys66Tyr) rs1554430943
NM_000238.4(KCNH2):c.1983del (p.Ile662fs) rs1584852351
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter) rs749211387
NM_000238.4(KCNH2):c.2013_2145+77del rs2486029577
NM_000238.4(KCNH2):c.202T>C (p.Phe68Leu) rs199473417
NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_000238.4(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_000238.4(KCNH2):c.2117_2121del (p.Ser706fs) rs2486030446
NM_000238.4(KCNH2):c.2127_2128del (p.Asn709fs) rs1064796584
NM_000238.4(KCNH2):c.212G>A (p.Gly71Glu) rs886039183
NM_000238.4(KCNH2):c.2145+1G>A rs886039385
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000238.4(KCNH2):c.2146-1G>A rs2116950992
NM_000238.4(KCNH2):c.2146-1G>C rs2116950992
NM_000238.4(KCNH2):c.2146-2A>G
NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA rs1554425320
NM_000238.4(KCNH2):c.214C>T (p.Pro72Ser) rs794728411
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.4(KCNH2):c.215C>G (p.Pro72Arg) rs199473421
NM_000238.4(KCNH2):c.215C>T (p.Pro72Leu) rs199473421
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu) rs199472986
NM_000238.4(KCNH2):c.2192A>C (p.His731Pro) rs794728385
NM_000238.4(KCNH2):c.221C>T (p.Thr74Met) rs199473422
NM_000238.4(KCNH2):c.221_242del (p.Thr74fs) rs1389503709
NM_000238.4(KCNH2):c.2263G>A (p.Ala755Thr) rs794728386
NM_000238.4(KCNH2):c.2312A>G (p.His771Arg) rs1060500659
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_000238.4(KCNH2):c.2326C>T (p.Leu776Phe) rs771674303
NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr) rs199472848
NM_000238.4(KCNH2):c.2345T>C (p.Ile782Thr) rs1801085857
NM_000238.4(KCNH2):c.2351_2352inv (p.Arg784Pro)
NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn) rs794728387
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_000238.4(KCNH2):c.2367C>G (p.Ile789Met)
NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro) rs1801084514
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.4(KCNH2):c.2398+1G>T rs794728391
NM_000238.4(KCNH2):c.2398+5G>A rs1554425149
NM_000238.4(KCNH2):c.2398+5G>T rs1554425149
NM_000238.4(KCNH2):c.2398_2398+21del rs2486023517
NM_000238.4(KCNH2):c.2399-108_2488del rs2116940777
NM_000238.4(KCNH2):c.2399-2A>G rs2486016384
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.2415del (p.Phe805fs) rs1064793368
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu) rs199473000
NM_000238.4(KCNH2):c.2453C>G (p.Ser818Trp) rs121912510
NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr) rs1563189895
NM_000238.4(KCNH2):c.2464G>C (p.Val822Leu) rs121912506
NM_000238.4(KCNH2):c.2465T>C (p.Val822Ala) rs2486015845
NM_000238.4(KCNH2):c.2468G>A (p.Arg823Gln) rs1064793147
NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn) rs199473005
NM_000238.4(KCNH2):c.2509G>T (p.Asp837Tyr) rs199473005
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.4(KCNH2):c.2536C>T (p.Pro846Ser) rs199473006
NM_000238.4(KCNH2):c.254C>T (p.Ala85Val) rs199473494
NM_000238.4(KCNH2):c.2592+1G>A rs1554424772
NM_000238.4(KCNH2):c.2593-1G>C rs2486013081
NM_000238.4(KCNH2):c.260T>C (p.Leu87Pro) rs199473495
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs) rs1131692183
NM_000238.4(KCNH2):c.2676del (p.Arg893fs) rs1801005389
NM_000238.4(KCNH2):c.2687_2690del (p.Asp896fs) rs1584846827
NM_000238.4(KCNH2):c.2692+167_3153-109del
NM_000238.4(KCNH2):c.2692+1G>A rs1801002279
NM_000238.4(KCNH2):c.2692+1del rs2486011704
NM_000238.4(KCNH2):c.2692+2_2692+4del rs1308270290
NM_000238.4(KCNH2):c.2692+5G>T rs1057522921
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter) rs1800975855
NM_000238.4(KCNH2):c.2717del (p.Ser906fs) rs2486008594
NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs) rs2486008235
NM_000238.4(KCNH2):c.2734_2738dup (p.Ala915fs) rs794728502
NM_000238.4(KCNH2):c.2762del (p.Gly921fs) rs1584845263
NM_000238.4(KCNH2):c.2764del (p.Arg922fs) rs794728453
NM_000238.4(KCNH2):c.2766del (p.Pro923fs) rs1554424403
NM_000238.4(KCNH2):c.2775del (p.Pro926fs) rs794728455
NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs) rs1584845045
NM_000238.4(KCNH2):c.2785G>T (p.Glu929Ter)
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) rs794728458
NM_000238.4(KCNH2):c.281T>G (p.Val94Gly) rs199472852
NM_000238.4(KCNH2):c.2887_2888delinsA (p.Pro963fs) rs1064795287
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs) rs794728462
NM_000238.4(KCNH2):c.2918del (p.Leu973fs) rs1800958758
NM_000238.4(KCNH2):c.2959dup (p.Leu987fs) rs2116931511
NM_000238.4(KCNH2):c.2964del (p.Gly989fs)
NM_000238.4(KCNH2):c.2966-2_2967dup rs794728464
NM_000238.4(KCNH2):c.296A>G (p.Tyr99Cys) rs199472854
NM_000238.4(KCNH2):c.2980G>A (p.Val994Met)
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000238.4(KCNH2):c.298C>T (p.Arg100Trp) rs121912515
NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr) rs794728402
NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter) rs2486005034
NM_000238.4(KCNH2):c.3048_3049insCCCCCCCCCCCCC (p.Ala1017fs) rs2486004826
NM_000238.4(KCNH2):c.3054_3055insCCCCCCC (p.Thr1019fs) rs1554424138
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs) rs864622174
NM_000238.4(KCNH2):c.3060dup (p.Ser1021fs) rs864622174
NM_000238.4(KCNH2):c.307+2T>A rs796052196
NM_000238.4(KCNH2):c.307_307+1delinsTT rs1554430850
NM_000238.4(KCNH2):c.308-2A>G rs1057520598
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs) rs1554424091
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs) rs1800940404
NM_000238.4(KCNH2):c.3095_3099dup (p.Pro1034fs) rs794728467
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) rs794728467
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs) rs794728466
NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs) rs1554424044
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs) rs1800937691
NM_000238.4(KCNH2):c.3106_3112dup (p.Val1038fs) rs1554424042
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000238.4(KCNH2):c.3152+1G>T rs1057518151
NM_000238.4(KCNH2):c.3153-1G>C rs2486001553
NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs) rs2486001403
NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter) rs1554423871
NM_000238.4(KCNH2):c.322T>C (p.Cys108Arg) rs199472859
NM_000238.4(KCNH2):c.3255del (p.Pro1086fs) rs1064795855
NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs) rs1452575772
NM_000238.4(KCNH2):c.331_337dup (p.Val113fs) rs1554428238
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs) rs1800857447
NM_000238.4(KCNH2):c.3453_3454del (p.His1151fs) rs1554423346
NM_000238.4(KCNH2):c.379C>T (p.Leu127Phe) rs794728352
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu) rs764831888
NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter) rs2117011952
NM_000238.4(KCNH2):c.472+1G>A rs794728477
NM_000238.4(KCNH2):c.473-2A>G rs2117007319
NM_000238.4(KCNH2):c.533C>A (p.Ser178Ter)
NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs) rs1554427936
NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs) rs1554427931
NM_000238.4(KCNH2):c.553_581delinsACCGGG (p.Ala185fs) rs2117006178
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_000238.4(KCNH2):c.67G>A (p.Glu23Lys)
NM_000238.4(KCNH2):c.76+1G>A rs2117072529
NM_000238.4(KCNH2):c.76+1dup rs2117072537
NM_000238.4(KCNH2):c.76+2T>A rs794728419
NM_000238.4(KCNH2):c.76_76+1del rs1563193513
NM_000238.4(KCNH2):c.77-1G>A rs794728406
NM_000238.4(KCNH2):c.77-1G>T rs794728406
NM_000238.4(KCNH2):c.774dup (p.Asp259fs) rs869025447
NM_000238.4(KCNH2):c.80G>A (p.Arg27His) rs199472828
NM_000238.4(KCNH2):c.80del (p.Arg27fs) rs2117063981
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter) rs552583527
NM_000238.4(KCNH2):c.832_916+11del rs2486087544
NM_000238.4(KCNH2):c.842dup (p.Ala282fs) rs730880374
NM_000238.4(KCNH2):c.87C>G (p.Phe29Leu) rs199472830
NM_000238.4(KCNH2):c.893del (p.Pro298fs) rs1563169382
NM_000238.4(KCNH2):c.910_916+11del rs1563169296
NM_000238.4(KCNH2):c.916+1G>A rs2486087618
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp) rs199472884
NM_000238.4(KCNH2):c.917-1G>T rs2486083513
NM_000238.4(KCNH2):c.917-2A>G rs2116999316
NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn) rs199472833
NM_000238.4(KCNH2):c.92T>C (p.Ile31Thr) rs199472833
NM_000238.4(KCNH2):c.94G>C (p.Ala32Pro)
NM_000238.4(KCNH2):c.959C>A (p.Ser320Ter) rs199472886
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487

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