ClinVar Miner

List of variants in gene KCNH2 reported as pathogenic for Long QT syndrome

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Gene type:
ClinVar version:
Total variants: 316
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918 0.00006
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter) rs773724817 0.00003
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538 0.00001
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) rs794728403 0.00001
NC_000007.13:g.(?_150642443)_(150645641_?)del
NC_000007.13:g.(?_150642447)_(150656830_?)del
NC_000007.13:g.(?_150642453)_(150649961_?)del
NC_000007.13:g.(?_150642453)_(150675001_?)del
NC_000007.13:g.(?_150644406)_(150644976_?)del
NC_000007.13:g.(?_150653066)_(150655041_?)del
NC_000007.13:g.(?_150654359)_(150657201_?)del
NC_000007.13:g.(?_150654369)_(150656834_?)del
NC_000007.14:g.(?_150944956)_(150959736_?)del
NC_000007.14:g.(?_150955988)_(150958464_?)del
NC_000007.14:g.(?_150957281)_(150977923_?)del
NC_000007.14:g.(?_150959552)_(150959756_?)del
NC_000007.14:g.(?_150959562)_(150959746_?)del
NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del) rs794728438
NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs) rs863224478
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter) rs1801410644
NM_000238.4(KCNH2):c.100del (p.Ala34fs) rs794728506
NM_000238.4(KCNH2):c.1027del (p.Leu343fs) rs1801409660
NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter) rs794728364
NM_000238.4(KCNH2):c.1112_1113dup (p.Glu372fs) rs1801406108
NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs) rs1554427317
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.4(KCNH2):c.1129-1G>A rs794728478
NM_000238.4(KCNH2):c.1129-2A>G rs794728365
NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs) rs1563161565
NM_000238.4(KCNH2):c.1139del (p.Leu380fs) rs1563161538
NM_000238.4(KCNH2):c.1181del (p.Arg394fs)
NM_000238.4(KCNH2):c.1193G>A (p.Trp398Ter) rs794728366
NM_000238.4(KCNH2):c.1197del (p.Ile400fs) rs1801232040
NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter)
NM_000238.4(KCNH2):c.1264G>A (p.Ala422Thr) rs199472895
NM_000238.4(KCNH2):c.1285del (p.Ala429fs) rs794728498
NM_000238.4(KCNH2):c.128A>G (p.Tyr43Cys) rs199472836
NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs) rs2116971722
NM_000238.4(KCNH2):c.1326_1347del (p.Thr443fs)
NM_000238.4(KCNH2):c.1328_1349dup (p.Gln450fs)
NM_000238.4(KCNH2):c.1330G>T (p.Glu444Ter) rs201268831
NM_000238.4(KCNH2):c.1335dup (p.Gly446fs) rs1554426219
NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter) rs1563160541
NM_000238.4(KCNH2):c.1379del (p.Asp460fs) rs1584856544
NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs) rs2116969765
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter) rs1584883377
NM_000238.4(KCNH2):c.1479C>A (p.Tyr493Ter) rs878853771
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_000238.4(KCNH2):c.1513del (p.Ala505fs) rs1064793832
NM_000238.4(KCNH2):c.154del (p.Cys52fs) rs794728508
NM_000238.4(KCNH2):c.156C>A (p.Cys52Ter) rs754921704
NM_000238.4(KCNH2):c.1578del (p.Ala527fs) rs1801183828
NM_000238.4(KCNH2):c.1580del (p.Ala527fs)
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys) rs199472916
NM_000238.4(KCNH2):c.1624del (p.Tyr542fs)
NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter)
NM_000238.4(KCNH2):c.1629dup (p.Glu544fs) rs2116963916
NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter) rs199472844
NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter) rs199472918
NM_000238.4(KCNH2):c.1676_1682del (p.Leu559fs)
NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr) rs199472921
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg) rs199472922
NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter) rs1801175648
NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter) rs199473517
NM_000238.4(KCNH2):c.1695del (p.Cys566fs) rs1060500661
NM_000238.4(KCNH2):c.1701del (p.Trp568fs) rs794728440
NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter)
NM_000238.4(KCNH2):c.1707_1711dup (p.Ile571fs) rs2116962569
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000238.4(KCNH2):c.1720_1945+102del
NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter)
NM_000238.4(KCNH2):c.1742C>A (p.Ser581Ter) rs794728483
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys) rs121912508
NM_000238.4(KCNH2):c.1745_1746dup (p.Ile583fs) rs1801170310
NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys) rs199473430
NM_000238.4(KCNH2):c.1762_1765dup (p.Leu589fs)
NM_000238.4(KCNH2):c.1778T>A (p.Ile593Lys) rs28928904
NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg) rs28928904
NM_000238.4(KCNH2):c.1790A>G (p.Tyr597Cys) rs199472934
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser) rs199473522
NM_000238.4(KCNH2):c.1825G>A (p.Asp609Asn) rs199472941
NM_000238.4(KCNH2):c.1825_1830del (p.Asp609_Lys610del) rs2116960605
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile) rs199472947
NM_000238.4(KCNH2):c.1877del (p.Gly626fs)
NM_000238.4(KCNH2):c.1879T>C (p.Phe627Leu) rs199472954
NM_000238.4(KCNH2):c.1881C>A (p.Phe627Leu) rs199473039
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla) rs1563156461
NM_000238.4(KCNH2):c.1886A>C (p.Asn629Thr) rs199472957
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.4(KCNH2):c.1909G>A (p.Glu637Lys) rs199472968
NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter) rs199472968
NM_000238.4(KCNH2):c.1921_1923del (p.Ser641del)
NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr) rs199472971
NM_000238.4(KCNH2):c.1922C>T (p.Ser641Phe) rs199472971
NM_000238.4(KCNH2):c.1945+6T>C rs794728380
NM_000238.4(KCNH2):c.1946-1G>C rs794728375
NM_000238.4(KCNH2):c.1946-2A>C rs794728488
NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs)
NM_000238.4(KCNH2):c.1956T>A (p.Tyr652Ter) rs1137617
NM_000238.4(KCNH2):c.1956del (p.Met651_Tyr652insTer)
NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs) rs2117062966
NM_000238.4(KCNH2):c.1966_1989del (p.Phe656_Ile663del) rs1801134712
NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys) rs1801136288
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.4(KCNH2):c.1983del (p.Ile662fs) rs1584852351
NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter) rs1801935667
NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter) rs1554425527
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter) rs749211387
NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs)
NM_000238.4(KCNH2):c.2026C>T (p.Gln676Ter) rs794728381
NM_000238.4(KCNH2):c.2044del (p.Glu682fs) rs1584852174
NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter) rs1554425486
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.2104del (p.Gln702fs)
NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter) rs2116954443
NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter) rs2116954409
NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs) rs2116954362
NM_000238.4(KCNH2):c.211G>C (p.Gly71Arg) rs199473420
NM_000238.4(KCNH2):c.212G>A (p.Gly71Glu) rs886039183
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000238.4(KCNH2):c.2156dup (p.Phe720fs)
NM_000238.4(KCNH2):c.2159dup (p.Pro721_Glu722insTer)
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.4(KCNH2):c.2162_2163del (p.Pro721fs)
NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del) rs1554425226
NM_000238.4(KCNH2):c.220_233del (p.Thr74fs) rs2117062748
NM_000238.4(KCNH2):c.2218dup (p.Cys740fs) rs1554425284
NM_000238.4(KCNH2):c.221_242del (p.Thr74fs) rs1389503709
NM_000238.4(KCNH2):c.221_251del (p.Thr74fs) rs1554430908
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.4(KCNH2):c.2257del (p.Ala753fs) rs1584850710
NM_000238.4(KCNH2):c.2285_2286del (p.His762fs) rs1801088980
NM_000238.4(KCNH2):c.2289_2290dup (p.Pro764fs)
NM_000238.4(KCNH2):c.2304_2305dup (p.Leu769fs)
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs) rs1584883087
NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs) rs1060500662
NM_000238.4(KCNH2):c.2398+5G>T rs1554425149
NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter) rs1801032151
NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs) rs1554424849
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met) rs121912506
NM_000238.4(KCNH2):c.2470del (p.Ala824fs) rs1064793434
NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn) rs199473005
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.4(KCNH2):c.2534_2541del (p.Tyr845fs)
NM_000238.4(KCNH2):c.2536_2537del (p.Tyr845_Pro846insTer) rs2116940397
NM_000238.4(KCNH2):c.2555del (p.Phe852fs) rs2116940243
NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter) rs2116940231
NM_000238.4(KCNH2):c.2616dup (p.Gly873fs) rs1584847173
NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter) rs1554424688
NM_000238.4(KCNH2):c.2634_2643del (p.Gly879fs) rs1801008727
NM_000238.4(KCNH2):c.2648_2652dup (p.Arg885fs)
NM_000238.4(KCNH2):c.2653_2657del (p.Arg885fs) rs1801007403
NM_000238.4(KCNH2):c.2657dup (p.Arg887fs) rs1554424671
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs) rs1131692183
NM_000238.4(KCNH2):c.2676_2680dup (p.Arg894fs) rs2116937619
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs) rs1385959174
NM_000238.4(KCNH2):c.2682_2685dup (p.Asp896fs) rs2116937449
NM_000238.4(KCNH2):c.2684del (p.Thr895fs) rs2116937500
NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter)
NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs) rs1584846819
NM_000238.4(KCNH2):c.2698dup (p.Glu900fs)
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) rs794728449
NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs)
NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs) rs794728502
NM_000238.4(KCNH2):c.2743del (p.Ala915fs) rs2116933842
NM_000238.4(KCNH2):c.2748_2766del (p.Pro917fs)
NM_000238.4(KCNH2):c.2762del (p.Gly921fs) rs1584845263
NM_000238.4(KCNH2):c.2762dup (p.Arg922fs)
NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs) rs1554424390
NM_000238.4(KCNH2):c.2767_2770dup (p.Gly924fs) rs1800970116
NM_000238.4(KCNH2):c.2775del (p.Pro926fs) rs794728455
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) rs794728455
NM_000238.4(KCNH2):c.2777del (p.Pro926fs) rs794728456
NM_000238.4(KCNH2):c.2780G>A (p.Trp927Ter) rs794728399
NM_000238.4(KCNH2):c.2785del (p.Glu929fs) rs794728458
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) rs794728458
NM_000238.4(KCNH2):c.2840_2852del (p.Gly947fs)
NM_000238.4(KCNH2):c.2857del (p.Leu953fs) rs794728503
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs) rs794728462
NM_000238.4(KCNH2):c.2894del (p.Gly965fs)
NM_000238.4(KCNH2):c.2900dup (p.Pro968fs) rs786204101
NM_000238.4(KCNH2):c.2918del (p.Leu973fs) rs1800958758
NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter) rs761585108
NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978fs)
NM_000238.4(KCNH2):c.2931_2941dup (p.Ser981fs) rs2116931753
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.4(KCNH2):c.2960del (p.Leu987fs) rs1800955789
NM_000238.4(KCNH2):c.2966-2_2967dup rs794728464
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) rs794728401
NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter) rs121912509
NM_000238.4(KCNH2):c.3007del (p.Asp1003fs) rs1800946921
NM_000238.4(KCNH2):c.3007dup (p.Asp1003fs) rs1800946921
NM_000238.4(KCNH2):c.3017del (p.Gly1006fs) rs794728504
NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter)
NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter) rs1057520558
NM_000238.4(KCNH2):c.3039del (p.Arg1014fs) rs2116929916
NM_000238.4(KCNH2):c.3054del (p.Thr1019fs) rs1554424138
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs) rs864622174
NM_000238.4(KCNH2):c.307+1del rs2117062104
NM_000238.4(KCNH2):c.307_307+1delinsTT rs1554430850
NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs) rs2116929283
NM_000238.4(KCNH2):c.3086_3099del (p.Ser1029fs) rs2116928923
NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs) rs1554424085
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs) rs1554424091
NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs) rs1554424070
NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs) rs1554424083
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs) rs1800940404
NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs) rs1554424063
NM_000238.4(KCNH2):c.3094_3095dup (p.Arg1033fs)
NM_000238.4(KCNH2):c.3094del (p.Arg1032fs) rs864622309
NM_000238.4(KCNH2):c.3096_3099del (p.Arg1033fs) rs794728467
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) rs794728467
NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs) rs1554424079
NM_000238.4(KCNH2):c.3097_3106dup (p.Gly1036fs) rs2116928723
NM_000238.4(KCNH2):c.3098_3101dup (p.Arg1035fs)
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs) rs794728466
NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs) rs794728466
NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs) rs1554424044
NM_000238.4(KCNH2):c.3099del (p.Arg1035fs) rs1057517743
NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs)
NM_000238.4(KCNH2):c.3100_3103dup (p.Arg1035fs)
NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs) rs1554424062
NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs) rs2116928626
NM_000238.4(KCNH2):c.3103del (p.Arg1035fs) rs794728468
NM_000238.4(KCNH2):c.3103dup (p.Arg1035fs) rs794728468
NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs) rs2116928557
NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs) rs794728470
NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs) rs794728469
NM_000238.4(KCNH2):c.3107del (p.Gly1036fs) rs794728469
NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs) rs794728469
NM_000238.4(KCNH2):c.3108_3112dup (p.Val1038fs) rs1800936242
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs) rs1584843033
NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs) rs1584842021
NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs)
NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter) rs1554423871
NM_000238.4(KCNH2):c.3194_3330+68del
NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter) rs794728416
NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter)
NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs) rs1584841841
NM_000238.4(KCNH2):c.3245_3251dup (p.Gly1085fs)
NM_000238.4(KCNH2):c.3251dup (p.Pro1086fs) rs794728473
NM_000238.4(KCNH2):c.3255dup (p.Pro1086fs) rs1064795855
NM_000238.4(KCNH2):c.3277_3278del (p.Pro1093fs)
NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs)
NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs)
NM_000238.4(KCNH2):c.3458dup (p.His1153fs) rs2116917246
NM_000238.4(KCNH2):c.371T>G (p.Met124Arg) rs199472862
NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs) rs794728489
NM_000238.4(KCNH2):c.3G>A (p.Met1Ile) rs2117072816
NM_000238.4(KCNH2):c.402del (p.Lys135fs) rs1060500670
NM_000238.4(KCNH2):c.422dup (p.Ala142fs) rs2117011733
NM_000238.4(KCNH2):c.453del (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.453dup (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter) rs1554428173
NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter)
NM_000238.4(KCNH2):c.464del (p.Leu155fs) rs2117011246
NM_000238.4(KCNH2):c.46del (p.Asp16fs) rs1584885912
NM_000238.4(KCNH2):c.470del (p.Pro157fs) rs1554428170
NM_000238.4(KCNH2):c.486del (p.Phe163fs)
NM_000238.4(KCNH2):c.507dup (p.Leu170fs) rs1801462423
NM_000238.4(KCNH2):c.512_536del (p.Leu171fs) rs1554427943
NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter)
NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs) rs1554427931
NM_000238.4(KCNH2):c.544_556del (p.Ser182fs) rs2117006599
NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter) rs1057517742
NM_000238.4(KCNH2):c.548_560del (p.Gly183fs)
NM_000238.4(KCNH2):c.553_560del (p.Ala185fs)
NM_000238.4(KCNH2):c.565_568del (p.Gly189fs) rs794728420
NM_000238.4(KCNH2):c.572del (p.Pro191fs) rs794728423
NM_000238.4(KCNH2):c.659del (p.Asn220fs)
NM_000238.4(KCNH2):c.668_671del (p.Ala223fs)
NM_000238.4(KCNH2):c.669del (p.Leu225fs) rs2117005326
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_000238.4(KCNH2):c.678del (p.Ala228fs) rs794728496
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) rs730880116
NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter)
NM_000238.4(KCNH2):c.707_708del (p.Gly236fs) rs1801449253
NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs) rs794728425
NM_000238.4(KCNH2):c.757dup (p.Ala253fs)
NM_000238.4(KCNH2):c.767dup (p.Asn257fs)
NM_000238.4(KCNH2):c.769_854delinsGAGCCCGAGGCGT (p.Asn257fs)
NM_000238.4(KCNH2):c.774_780del (p.Asp259fs) rs1801444435
NM_000238.4(KCNH2):c.805del (p.Arg269fs) rs2117003707
NM_000238.4(KCNH2):c.809_821del (p.Thr270fs) rs2117003430
NM_000238.4(KCNH2):c.812_813del (p.Arg271fs) rs1801442718
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter) rs552583527
NM_000238.4(KCNH2):c.81dup (p.Lys28Ter) rs794728475
NM_000238.4(KCNH2):c.826del (p.Cys276fs) rs794728422
NM_000238.4(KCNH2):c.835del (p.Val279fs)
NM_000238.4(KCNH2):c.84del (p.Lys28fs) rs1584883517
NM_000238.4(KCNH2):c.850_868del (p.Ser284fs) rs794728427
NM_000238.4(KCNH2):c.87C>A (p.Phe29Leu) rs199472830
NM_000238.4(KCNH2):c.885del (p.Leu296fs) rs794728429
NM_000238.4(KCNH2):c.893del (p.Pro298fs) rs1563169382
NM_000238.4(KCNH2):c.904del (p.His302fs) rs1801437299
NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs) rs1554427596
NM_000238.4(KCNH2):c.955_956del (p.Thr319fs) rs2116998812
NM_000238.4(KCNH2):c.978del (p.Tyr327fs)
NM_000238.4(KCNH2):c.991del (p.Ser331fs)

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