ClinVar Miner

List of variants in gene KCNH2 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 302
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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.1001C>T (p.Pro334Leu) rs199472888
NM_000238.3(KCNH2):c.100del (p.Ala34fs) rs794728506
NM_000238.3(KCNH2):c.1014del (p.Asn339fs) rs794728431
NM_000238.3(KCNH2):c.106del (p.Val36fs) rs794728507
NM_000238.3(KCNH2):c.1096C>T (p.Arg366Ter) rs794728364
NM_000238.3(KCNH2):c.1121_1122del (p.Val374fs) rs1554427317
NM_000238.3(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.3(KCNH2):c.1129-1G>A rs794728478
NM_000238.3(KCNH2):c.1129-2A>G rs794728365
NM_000238.3(KCNH2):c.1132_1133del (p.Leu378fs) rs1563161565
NM_000238.3(KCNH2):c.1139del (p.Leu380fs) rs1563161538
NM_000238.3(KCNH2):c.1142del (p.Gly381fs) rs794728497
NM_000238.3(KCNH2):c.1150dup (p.Val384fs) rs794728433
NM_000238.3(KCNH2):c.1193G>A (p.Trp398Ter) rs794728366
NM_000238.3(KCNH2):c.1201_1204dup (p.His402fs) rs794728434
NM_000238.3(KCNH2):c.125T>C (p.Ile42Thr) rs199473488
NM_000238.3(KCNH2):c.1261del (p.Thr421fs) rs1554426258
NM_000238.3(KCNH2):c.1262C>A (p.Thr421Lys) rs199472894
NM_000238.3(KCNH2):c.1264G>A (p.Ala422Thr) rs199472895
NM_000238.3(KCNH2):c.1285del (p.Ala429fs) rs794728498
NM_000238.3(KCNH2):c.128A>G (p.Tyr43Cys) rs199472836
NM_000238.3(KCNH2):c.1316del (p.Gly439fs) rs794728435
NM_000238.3(KCNH2):c.1319dup (p.Pro441fs) rs794728436
NM_000238.3(KCNH2):c.1330G>T (p.Glu444Ter) rs201268831
NM_000238.3(KCNH2):c.1335dup (p.Gly446fs) rs1554426219
NM_000238.3(KCNH2):c.1379del (p.Asp460fs)
NM_000238.3(KCNH2):c.139G>T (p.Gly47Cys) rs794728409
NM_000238.3(KCNH2):c.1408A>G (p.Asn470Asp) rs121912505
NM_000238.3(KCNH2):c.1421C>T (p.Thr474Ile) rs199472906
NM_000238.3(KCNH2):c.1423_1425del (p.Tyr475del) rs794728437
NM_000238.3(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_000238.3(KCNH2):c.146_147delinsAA (p.Cys49Ter)
NM_000238.3(KCNH2):c.1479C>A (p.Tyr493Ter) rs878853771
NM_000238.3(KCNH2):c.147C>G (p.Cys49Trp) rs794728410
NM_000238.3(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del) rs794728438
NM_000238.3(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_000238.3(KCNH2):c.1502A>G (p.Asp501Gly) rs199473513
NM_000238.3(KCNH2):c.1513del (p.Ala505fs) rs1064793832
NM_000238.3(KCNH2):c.154del (p.Cys52fs) rs794728508
NM_000238.3(KCNH2):c.1557+1G>A rs886039043
NM_000238.3(KCNH2):c.1557+1G>C rs886039043
NM_000238.3(KCNH2):c.1600C>T (p.Arg534Cys) rs199472916
NM_000238.3(KCNH2):c.1620del (p.Arg541fs) rs1554425955
NM_000238.3(KCNH2):c.162C>G (p.Tyr54Ter) rs1554430962
NM_000238.3(KCNH2):c.164C>T (p.Ser55Leu) rs199472844
NM_000238.3(KCNH2):c.1655T>A (p.Leu552Ter)
NM_000238.3(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918
NM_000238.3(KCNH2):c.1672G>C (p.Ala558Pro) rs121912516
NM_000238.3(KCNH2):c.1675C>T (p.Leu559Phe) rs794728374
NM_000238.3(KCNH2):c.1676del (p.Leu559fs) rs794728439
NM_000238.3(KCNH2):c.167G>T (p.Arg56Leu) rs199472845
NM_000238.3(KCNH2):c.1681G>A (p.Ala561Thr) rs199472921
NM_000238.3(KCNH2):c.1681G>C (p.Ala561Pro) rs199472921
NM_000238.3(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.3(KCNH2):c.1684C>T (p.His562Tyr) rs794728481
NM_000238.3(KCNH2):c.1689G>A (p.Trp563Ter) rs199473517
NM_000238.3(KCNH2):c.1694C>T (p.Ala565Val) rs794728482
NM_000238.3(KCNH2):c.1695del (p.Cys566fs) rs1060500661
NM_000238.3(KCNH2):c.1701del (p.Trp568fs) rs794728440
NM_000238.3(KCNH2):c.1704G>A (p.Trp568Ter) rs199472926
NM_000238.3(KCNH2):c.1707C>G (p.Tyr569Ter) rs777831008
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.1714G>C (p.Gly572Arg) rs9333649
NM_000238.3(KCNH2):c.1715G>T (p.Gly572Val) rs199473423
NM_000238.3(KCNH2):c.1726C>T (p.Gln576Ter) rs759081373
NM_000238.3(KCNH2):c.173A>G (p.Glu58Gly) rs199472847
NM_000238.3(KCNH2):c.1742C>A (p.Ser581Ter) rs794728483
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.1764C>A (p.Asn588Lys) rs104894021
NM_000238.3(KCNH2):c.1764C>G (p.Asn588Lys) rs104894021
NM_000238.3(KCNH2):c.1778T>A (p.Ile593Lys) rs28928904
NM_000238.3(KCNH2):c.1778T>C (p.Ile593Thr) rs28928904
NM_000238.3(KCNH2):c.1778T>G (p.Ile593Arg) rs28928904
NM_000238.3(KCNH2):c.1786C>G (p.Pro596Ala) rs863225288
NM_000238.3(KCNH2):c.1787C>A (p.Pro596His) rs199472933
NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
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.1815del (p.Ser606fs) rs794728499
NM_000238.3(KCNH2):c.1825G>A (p.Asp609Asn) rs199472941
NM_000238.3(KCNH2):c.1831T>C (p.Tyr611His) rs199472942
NM_000238.3(KCNH2):c.1837A>T (p.Thr613Ser) rs794728485
NM_000238.3(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.3(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.3(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.3(KCNH2):c.1848C>G (p.Tyr616Ter) rs1563156868
NM_000238.3(KCNH2):c.1881C>A (p.Phe627Leu) rs199473039
NM_000238.3(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.3(KCNH2):c.1882G>C (p.Gly628Arg) rs121912507
NM_000238.3(KCNH2):c.1883del (p.Gly628fs) rs1064793855
NM_000238.3(KCNH2):c.1885A>G (p.Asn629Asp) rs199472956
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.1888del (p.Val630fs) rs1554425724
NM_000238.3(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_000238.3(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.3(KCNH2):c.1900A>G (p.Thr634Ala) rs794728377
NM_000238.3(KCNH2):c.1909G>A (p.Glu637Lys) rs199472968
NM_000238.3(KCNH2):c.1913A>G (p.Lys638Arg) rs794728378
NM_000238.3(KCNH2):c.1918T>C (p.Phe640Leu) rs199473529
NM_000238.3(KCNH2):c.1920C>A (p.Phe640Leu) rs199472970
NM_000238.3(KCNH2):c.1920C>G (p.Phe640Leu) rs199472970
NM_000238.3(KCNH2):c.1929C>A (p.Cys643Ter) rs755698372
NM_000238.3(KCNH2):c.1933A>G (p.Met645Val) rs199472974
NM_000238.3(KCNH2):c.193A>C (p.Thr65Pro) rs121912511
NM_000238.3(KCNH2):c.1943G>A (p.Gly648Asp) rs794728486
NM_000238.3(KCNH2):c.1945+6T>C rs794728380
NM_000238.3(KCNH2):c.1946-1G>A rs794728375
NM_000238.3(KCNH2):c.1946-2A>C rs794728488
NM_000238.3(KCNH2):c.1956T>A (p.Tyr652Ter) rs1137617
NM_000238.3(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.3(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_000238.3(KCNH2):c.2000dup (p.Tyr667Ter) rs1554425527
NM_000238.3(KCNH2):c.2003C>A (p.Ser668Ter) rs749211387
NM_000238.3(KCNH2):c.2026C>T (p.Gln676Ter) rs794728381
NM_000238.3(KCNH2):c.2038del (p.Val680fs) rs1554425498
NM_000238.3(KCNH2):c.2053del (p.Arg685fs) rs794728500
NM_000238.3(KCNH2):c.2062C>T (p.Gln688Ter) rs1554425486
NM_000238.3(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_000238.3(KCNH2):c.2084del (p.Gln695fs) rs794728501
NM_000238.3(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_000238.3(KCNH2):c.2104C>T (p.Gln702Ter) rs794728382
NM_000238.3(KCNH2):c.2115del (p.Trp705fs) rs794728443
NM_000238.3(KCNH2):c.211G>C (p.Gly71Arg) rs199473420
NM_000238.3(KCNH2):c.2131A>G (p.Ile711Val) rs199473532
NM_000238.3(KCNH2):c.2145+1G>A rs886039385
NM_000238.3(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000238.3(KCNH2):c.214C>T (p.Pro72Ser) rs794728411
NM_000238.3(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.3(KCNH2):c.215C>T (p.Pro72Leu) rs199473421
NM_000238.3(KCNH2):c.2218dup (p.Cys740fs) rs1554425284
NM_000238.3(KCNH2):c.221C>G (p.Thr74Arg) rs199473422
NM_000238.3(KCNH2):c.221_251del (p.Thr74fs) rs1554430908
NM_000238.3(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.3(KCNH2):c.2236del (p.Ala746fs) rs1554425277
NM_000238.3(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
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.2320G>T (p.Asp774Tyr) rs199472995
NM_000238.3(KCNH2):c.234_241del (p.Ala79fs) rs886039045
NM_000238.3(KCNH2):c.234_250dup (p.Gln84fs)
NM_000238.3(KCNH2):c.2362_2363GA[3] (p.Ile789fs) rs1060500662
NM_000238.3(KCNH2):c.2395del (p.Leu799fs) rs794728444
NM_000238.3(KCNH2):c.2398+1_2398+8delGTATGGGG rs1554425146
NM_000238.3(KCNH2):c.2414T>C (p.Phe805Ser) rs199472999
NM_000238.3(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.3(KCNH2):c.2417G>A (p.Gly806Glu) rs199473000
NM_000238.3(KCNH2):c.2417G>C (p.Gly806Ala) rs199473000
NM_000238.3(KCNH2):c.2419del (p.Glu807fs) rs794728445
NM_000238.3(KCNH2):c.2442_2451del (p.Arg814fs) rs1554424849
NM_000238.3(KCNH2):c.244_252dup (p.Ile82_Gln84dup) rs794728476
NM_000238.3(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.3(KCNH2):c.2456del (p.Asn819fs) rs794728446
NM_000238.3(KCNH2):c.2458G>A (p.Gly820Arg) rs199473001
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.2477C>T (p.Thr826Ile) rs199473002
NM_000238.3(KCNH2):c.2482_2491del (p.Cys828fs) rs1554424829
NM_000238.3(KCNH2):c.2494A>T (p.Lys832Ter) rs794728393
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.2582A>G (p.Asn861Ser) rs121912513
NM_000238.3(KCNH2):c.2582A>T (p.Asn861Ile) rs121912513
NM_000238.3(KCNH2):c.2587C>T (p.Arg863Ter) rs773724817
NM_000238.3(KCNH2):c.2592+1G>A rs1554424772
NM_000238.3(KCNH2):c.2626G>T (p.Glu876Ter) rs1554424688
NM_000238.3(KCNH2):c.2657dup (p.Arg887fs) rs1554424671
NM_000238.3(KCNH2):c.2677_2680dup (p.Arg894fs) rs1385959174
NM_000238.3(KCNH2):c.2680_2686del (p.Arg894fs) rs1554424620
NM_000238.3(KCNH2):c.2684_2685insCC (p.Asp896fs) rs794728447
NM_000238.3(KCNH2):c.2690_2691delinsC (p.Lys897fs) rs794728448
NM_000238.3(KCNH2):c.2690delinsCGACAC (p.Lys897fs)
NM_000238.3(KCNH2):c.2693-2A>T rs794728394
NM_000238.3(KCNH2):c.2705del (p.Pro902fs) rs1563148264
NM_000238.3(KCNH2):c.2724_2728dup (p.Pro910fs) rs794728449
NM_000238.3(KCNH2):c.2727del (p.Pro910fs) rs794728450
NM_000238.3(KCNH2):c.2729_2733CGGGC[1] (p.Arg912fs) rs794728502
NM_000238.3(KCNH2):c.2729_2733CGGGC[3] (p.Ala915fs) rs794728502
NM_000238.3(KCNH2):c.2732del (p.Gly911fs) rs794728451
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2762del (p.Gly921fs)
NM_000238.3(KCNH2):c.2763_2772del (p.Arg922fs) rs1554424390
NM_000238.3(KCNH2):c.2764del (p.Arg922fs) rs794728453
NM_000238.3(KCNH2):c.2768del (p.Pro923fs) rs794728454
NM_000238.3(KCNH2):c.2771G>A (p.Gly924Glu) rs199473009
NM_000238.3(KCNH2):c.2775dup (p.Pro926fs) rs794728455
NM_000238.3(KCNH2):c.2777del (p.Pro926fs) rs794728456
NM_000238.3(KCNH2):c.2780G>A (p.Trp927Ter) rs794728399
NM_000238.3(KCNH2):c.2783_2789del (p.Gly928fs) rs794728457
NM_000238.3(KCNH2):c.2785dup (p.Glu929fs) rs794728458
NM_000238.3(KCNH2):c.2792del (p.Pro931fs) rs794728460
NM_000238.3(KCNH2):c.2797dup (p.Ser933fs) rs794728461
NM_000238.3(KCNH2):c.2842C>T (p.Arg948Cys) rs121912514
NM_000238.3(KCNH2):c.2843G>A (p.Arg948His) rs199473011
NM_000238.3(KCNH2):c.2892del (p.Gly965fs) rs794728462
NM_000238.3(KCNH2):c.2892dup (p.Gly965fs) rs794728462
NM_000238.3(KCNH2):c.2900dup (p.Pro968fs) rs786204101
NM_000238.3(KCNH2):c.2906del (p.Gly969fs) rs794728459
NM_000238.3(KCNH2):c.2916_2917dup (p.Leu973fs) rs794728463
NM_000238.3(KCNH2):c.2931C>A (p.Cys977Ter)
NM_000238.3(KCNH2):c.2932G>T (p.Glu978Ter) rs141117135
NM_000238.3(KCNH2):c.2935_2939del (p.Lys979fs) rs1131692327
NM_000238.3(KCNH2):c.2952C>A (p.Cys984Ter) rs776595927
NM_000238.3(KCNH2):c.2952dup (p.Asn985fs) rs1554424254
NM_000238.3(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.3(KCNH2):c.2966-2_2967dup rs794728464
NM_000238.3(KCNH2):c.2966_2967insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG (p.Ala990_Phe991insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer) rs1554424099
NM_000238.3(KCNH2):c.296A>G (p.Tyr99Cys) rs199472854
NM_000238.3(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000238.3(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_000238.3(KCNH2):c.299G>A (p.Arg100Gln) rs199472855
NM_000238.3(KCNH2):c.3002G>A (p.Trp1001Ter) rs794728401
NM_000238.3(KCNH2):c.3003G>A (p.Trp1001Ter) rs121912509
NM_000238.3(KCNH2):c.3017del (p.Gly1006fs) rs794728504
NM_000238.3(KCNH2):c.301A>T (p.Lys101Ter) rs199472856
NM_000238.3(KCNH2):c.3027C>G (p.Tyr1009Ter) rs1057520558
NM_000238.3(KCNH2):c.303A>T (p.Lys101Asn) rs794728417
NM_000238.3(KCNH2):c.3040C>T (p.Arg1014Ter) rs794728403
NM_000238.3(KCNH2):c.3054del (p.Thr1019fs) rs1554424138
NM_000238.3(KCNH2):c.3060del (p.Ser1021fs) rs864622174
NM_000238.3(KCNH2):c.3079dup (p.Leu1027fs) rs794728465
NM_000238.3(KCNH2):c.307_307+1delGGinsTT rs1554430850
NM_000238.3(KCNH2):c.3088_3089delinsGGGTCTCCCG (p.Pro1030fs) rs1554424107
NM_000238.3(KCNH2):c.3090_3093dup (p.Arg1032fs) rs1554424091
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.3093_3106del (p.Pro1034fs) rs1554424063
NM_000238.3(KCNH2):c.3094del (p.Arg1032fs) rs864622309
NM_000238.3(KCNH2):c.3095_3107dup (p.Asp1037fs) rs1554424060
NM_000238.3(KCNH2):c.3096_3099dup (p.Pro1034fs) rs794728467
NM_000238.3(KCNH2):c.3097_3098dup (p.Pro1034fs) rs1554424079
NM_000238.3(KCNH2):c.3099_3109dup (p.Asp1037fs) rs794728466
NM_000238.3(KCNH2):c.3099_3112del (p.Pro1034fs) rs1554424044
NM_000238.3(KCNH2):c.3099del (p.Arg1035fs) rs1057517743
NM_000238.3(KCNH2):c.3103del (p.Arg1035fs) rs794728468
NM_000238.3(KCNH2):c.3104_3107dup (p.Asp1037fs) rs794728469
NM_000238.3(KCNH2):c.3105_3112dup (p.Val1038fs) rs794728470
NM_000238.3(KCNH2):c.3107del (p.Gly1036fs) rs794728469
NM_000238.3(KCNH2):c.3107dup (p.Asp1037fs) rs794728469
NM_000238.3(KCNH2):c.3108dup (p.Asp1037fs)
NM_000238.3(KCNH2):c.3112_3129delinsCA (p.Val1038fs) rs794728471
NM_000238.3(KCNH2):c.3136del (p.Gln1046fs) rs794728472
NM_000238.3(KCNH2):c.3152+1G>T rs1057518151
NM_000238.3(KCNH2):c.3152+2T>C rs1057518169
NM_000238.3(KCNH2):c.3193C>T (p.Gln1065Ter) rs1554423871
NM_000238.3(KCNH2):c.31C>T (p.Gln11Ter) rs794728416
NM_000238.3(KCNH2):c.3200dup (p.Gln1068fs) rs1057518089
NM_000238.3(KCNH2):c.3202C>T (p.Gln1068Ter) rs1554423863
NM_000238.3(KCNH2):c.3225_3231del (p.Pro1076fs)
NM_000238.3(KCNH2):c.3251dup (p.Pro1086fs) rs794728473
NM_000238.3(KCNH2):c.3330+1G>A rs1368439403
NM_000238.3(KCNH2):c.344T>G (p.Val115Gly) rs794728351
NM_000238.3(KCNH2):c.373_374insGTGG (p.Phe125fs) rs794728489
NM_000238.3(KCNH2):c.387C>G (p.Phe129Leu) rs764831888
NM_000238.3(KCNH2):c.395_456del (p.Val132fs) rs1554428178
NM_000238.3(KCNH2):c.402del (p.Lys135fs) rs1060500670
NM_000238.3(KCNH2):c.453del (p.Thr152fs) rs761863251
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.472+1G>A rs794728477
NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs) rs863224478
NM_000238.3(KCNH2):c.512_536del (p.Leu171fs) rs1554427943
NM_000238.3(KCNH2):c.545C>A (p.Ser182Ter) rs1057517742
NM_000238.3(KCNH2):c.572del (p.Pro191fs) rs794728423
NM_000238.3(KCNH2):c.656A>T (p.Asp219Val) rs587777907
NM_000238.3(KCNH2):c.665_669delinsC (p.Val222fs) rs1085307620
NM_000238.3(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_000238.3(KCNH2):c.678del (p.Ala228fs) rs794728496
NM_000238.3(KCNH2):c.685G>T (p.Glu229Ter) rs730880116
NM_000238.3(KCNH2):c.732del (p.Gly246fs) rs794728424
NM_000238.3(KCNH2):c.735_754dup (p.Arg252fs) rs794728425
NM_000238.3(KCNH2):c.749C>A (p.Ser250Ter) rs794728360
NM_000238.3(KCNH2):c.76+2T>G rs794728419
NM_000238.3(KCNH2):c.805_808delinsAGT (p.Arg269fs) rs1554427697
NM_000238.3(KCNH2):c.809_812delinsAAAAGC (p.Thr270fs) rs794728426
NM_000238.3(KCNH2):c.811_812insA (p.Arg271fs) rs1554427692
NM_000238.3(KCNH2):c.81dup (p.Lys28Ter) rs794728475
NM_000238.3(KCNH2):c.826del (p.Cys276fs) rs794728422
NM_000238.3(KCNH2):c.84del (p.Lys28fs)
NM_000238.3(KCNH2):c.850_868del (p.Ser284fs) rs794728427
NM_000238.3(KCNH2):c.853_859del (p.Ala285fs) rs794728428
NM_000238.3(KCNH2):c.885del (p.Leu296fs) rs794728429
NM_000238.3(KCNH2):c.901_905CGCCA[3] (p.Ser304fs) rs1554427596
NM_000238.3(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000238.3(KCNH2):c.92T>C (p.Ile31Thr) rs199472833
NM_000238.3(KCNH2):c.934C>T (p.Arg312Cys) rs199472885
NM_172056.2(KCNH2):c.2399G>C (p.Gly800Ala) rs794728391
NM_172056.2(KCNH2):c.2399G>T (p.Gly800Val) rs794728391
NM_172056.2(KCNH2):c.2400T>A (p.Gly800=) rs1563152963
NM_172056.2(KCNH2):c.2403G>T (p.Met801Ile) rs1554425149
Single allele

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