ClinVar Miner

List of variants in gene KCNH2 reported as likely pathogenic

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Total variants: 145
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HGVS dbSNP
NC_000007.14:g.(?_150947308)_(150952873_?)dup
NM_000238.2(KCNH2):c.1048delG (p.Ala350Leufs) rs1064793523
NM_000238.2(KCNH2):c.2127_2128delCG (p.Asn709Lysfs) rs1064796584
NM_000238.2(KCNH2):c.2415delT (p.Phe805Leufs) rs1064793368
NM_000238.2(KCNH2):c.3255delG (p.Pro1086Leufs) rs1064795855
NM_000238.2(KCNH2):c.565_568delGGCG (p.Gly189Profs) rs794728420
NM_000238.3(KCNH2):c.1128+1810C>T rs972201049
NM_000238.3(KCNH2):c.1128+1820_1128+1821del rs1064794494
NM_000238.3(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.3(KCNH2):c.1129-1G>A rs794728478
NM_000238.3(KCNH2):c.1129-832_3108dup
NM_000238.3(KCNH2):c.1132dup (p.Leu378Profs) rs794728432
NM_000238.3(KCNH2):c.119C>T (p.Ala40Val) rs794728407
NM_000238.3(KCNH2):c.121G>C (p.Val41Leu) rs199472835
NM_000238.3(KCNH2):c.1238T>G (p.Leu413Arg) rs199472893
NM_000238.3(KCNH2):c.1262C>T (p.Thr421Met) rs199472894
NM_000238.3(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
NM_000238.3(KCNH2):c.1280A>G (p.Tyr427Cys) rs199472897
NM_000238.3(KCNH2):c.1282T>C (p.Ser428Pro) rs794728368
NM_000238.3(KCNH2):c.1293C>A (p.Phe431Leu) rs199472900
NM_000238.3(KCNH2):c.1348C>T (p.Gln450Ter)
NM_000238.3(KCNH2):c.1352C>T (p.Pro451Leu) rs199472902
NM_000238.3(KCNH2):c.136G>A (p.Asp46Asn) rs794728408
NM_000238.3(KCNH2):c.1402dupC (p.Leu468Profs) rs869025448
NM_000238.3(KCNH2):c.1415G>C (p.Arg472Pro) rs794728369
NM_000238.3(KCNH2):c.1474C>T (p.His492Tyr) rs199472910
NM_000238.3(KCNH2):c.1478A>G (p.Tyr493Cys) rs199472911
NM_000238.3(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_000238.3(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.3(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_000238.3(KCNH2):c.1600C>A (p.Arg534Ser) rs199472916
NM_000238.3(KCNH2):c.1610G>A (p.Arg537Gln) rs794728373
NM_000238.3(KCNH2):c.162C>A (p.Tyr54Ter) rs1554430962
NM_000238.3(KCNH2):c.164C>A (p.Ser55Ter) rs199472844
NM_000238.3(KCNH2):c.1664G>A (p.Cys555Tyr) rs1057517866
NM_000238.3(KCNH2):c.167G>A (p.Arg56Gln) rs199472845
NM_000238.3(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.3(KCNH2):c.1686C>G (p.His562Gln) rs1057520477
NM_000238.3(KCNH2):c.1689G>C (p.Trp563Cys) rs199473517
NM_000238.3(KCNH2):c.1693G>C (p.Ala565Pro) rs199473518
NM_000238.3(KCNH2):c.1701delC (p.Trp568Glyfs) rs794728440
NM_000238.3(KCNH2):c.170C>T (p.Ala57Val) rs794728493
NM_000238.3(KCNH2):c.1715G>C (p.Gly572Ala) rs199473423
NM_000238.3(KCNH2):c.172G>A (p.Glu58Lys) rs199473413
NM_000238.3(KCNH2):c.1738G>C (p.Asp580His) rs786205588
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.3(KCNH2):c.1754G>T (p.Trp585Leu) rs794728484
NM_000238.3(KCNH2):c.1755G>C (p.Trp585Cys)
NM_000238.3(KCNH2):c.1790A>G (p.Tyr597Cys) rs199472934
NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.3(KCNH2):c.1802G>A (p.Gly601Asp) rs794728480
NM_000238.3(KCNH2):c.1811G>T (p.Gly604Val) rs199472937
NM_000238.3(KCNH2):c.1819A>T (p.Ile607Phe) rs1064793146
NM_000238.3(KCNH2):c.1831T>G (p.Tyr611Asp) rs199472942
NM_000238.3(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
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.1851C>A (p.Phe617Leu) rs1057524595
NM_000238.3(KCNH2):c.1873G>C (p.Val625Leu)
NM_000238.3(KCNH2):c.1876G>A (p.Gly626Ser) rs199472953
NM_000238.3(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.3(KCNH2):c.1886A>C (p.Asn629Thr) 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.1894C>T (p.Pro632Ser) rs199473527
NM_000238.3(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.3(KCNH2):c.1913_1915delAGA (p.Lys638del) rs794728442
NM_000238.3(KCNH2):c.1945+1G>A rs794728487
NM_000238.3(KCNH2):c.1952T>G (p.Met651Arg) rs1554425569
NM_000238.3(KCNH2):c.1954_1956delTATinsCAC (p.Tyr652His) rs794728490
NM_000238.3(KCNH2):c.1970G>T (p.Gly657Val) rs1085307943
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.197G>A (p.Cys66Tyr) rs1554430943
NM_000238.3(KCNH2):c.202T>C (p.Phe68Leu) rs199473417
NM_000238.3(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438
NM_000238.3(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_000238.3(KCNH2):c.2081G>A (p.Arg694His) rs794728383
NM_000238.3(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_000238.3(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_000238.3(KCNH2):c.212G>A (p.Gly71Glu) rs886039183
NM_000238.3(KCNH2):c.2145+1G>A rs886039385
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.2162C>T (p.Pro721Leu) rs199472986
NM_000238.3(KCNH2):c.2192A>C (p.His731Pro) rs794728385
NM_000238.3(KCNH2):c.2204C>T (p.Ser735Leu) rs199472988
NM_000238.3(KCNH2):c.221C>T (p.Thr74Met) rs199473422
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.2263G>A (p.Ala755Thr) rs794728386
NM_000238.3(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_000238.3(KCNH2):c.2326C>T (p.Leu776Phe) rs771674303
NM_000238.3(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441
NM_000238.3(KCNH2):c.2360T>A (p.Ile787Asn) rs794728387
NM_000238.3(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_000238.3(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.3(KCNH2):c.2396T>C (p.Leu799Pro) rs794728390
NM_000238.3(KCNH2):c.2398+1G>T rs794728391
NM_000238.3(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.3(KCNH2):c.245T>C (p.Ile82Thr)
NM_000238.3(KCNH2):c.2464G>C (p.Val822Leu) rs121912506
NM_000238.3(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_000238.3(KCNH2):c.2468G>A (p.Arg823Gln) rs1064793147
NM_000238.3(KCNH2):c.2504G>A (p.Arg835Gln) rs794728395
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.2536C>T (p.Pro846Ser) rs199473006
NM_000238.3(KCNH2):c.2660G>A (p.Arg887His) rs199473432
NM_000238.3(KCNH2):c.2675_2679dup (p.Arg894Alafs) rs1131692183
NM_000238.3(KCNH2):c.2692+5G>T rs1057522921
NM_000238.3(KCNH2):c.2724_2728dupGGGGC (p.Pro910Argfs) rs794728449
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.275G>T (p.Arg92Leu) rs794728413
NM_000238.3(KCNH2):c.2766delG (p.Pro923Argfs) rs1554424403
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.2863C>G (p.Leu955Val) rs199473012
NM_000238.3(KCNH2):c.2887_2888delCCinsA (p.Pro963Thrfs) rs1064795287
NM_000238.3(KCNH2):c.3007G>T (p.Asp1003Tyr) rs794728402
NM_000238.3(KCNH2):c.301A>G (p.Lys101Glu) rs199472856
NM_000238.3(KCNH2):c.3060dup (p.Ser1021Glnfs) rs864622174
NM_000238.3(KCNH2):c.307+2T>A rs796052196
NM_000238.3(KCNH2):c.308-2A>G rs1057520598
NM_000238.3(KCNH2):c.3095_3099dup (p.Pro1034Glyfs) rs794728467
NM_000238.3(KCNH2):c.3099_3109delGCCCCGGGGCG (p.Pro1034Argfs) rs794728466
NM_000238.3(KCNH2):c.3106_3107dup (p.Asp1037Alafs) rs794728469
NM_000238.3(KCNH2):c.3106_3112dup (p.Val1038Glyfs) rs1554424042
NM_000238.3(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000238.3(KCNH2):c.331_337dup (p.Val113Glyfs) rs1554428238
NM_000238.3(KCNH2):c.379C>T (p.Leu127Phe) rs794728352
NM_000238.3(KCNH2):c.537_544dup (p.Ser182Trpfs) rs1554427936
NM_000238.3(KCNH2):c.544_551dup (p.Ala185Argfs) rs1554427931
NM_000238.3(KCNH2):c.76_76+1delAG
NM_000238.3(KCNH2):c.77-1G>A rs794728406
NM_000238.3(KCNH2):c.774dupC (p.Asp259Argfs) rs869025447
NM_000238.3(KCNH2):c.80G>A (p.Arg27His) rs199472828
NM_000238.3(KCNH2):c.842dupG (p.Ala282Argfs) rs730880374
NM_000238.3(KCNH2):c.910_916+11delAGCACCGGTGAGGGCGCC
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.92T>A (p.Ile31Asn) rs199472833
NM_000238.3(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_172056.2(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_172056.2(KCNH2):c.2180_2317del138 (p.Asp727_Ala772del) rs1554425226

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