ClinVar Miner

List of variants in gene KCNH2 reported as likely pathogenic

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Total variants: 172
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HGVS dbSNP
GRCh37/hg19 7q36.1(chr7:150642453-150656824)x1
NC_000007.13:g.(?_150644396)_(150649961_?)dup
NC_000007.14:g.(?_150951438)_(150959746_?)del
NM_000238.3(KCNH2):c.1129-832_3108dup
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu)
NM_000238.4(KCNH2):c.1102del (p.His368fs) rs1584863723
NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile) rs199472905
NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe)
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.4(KCNH2):c.1946-4_1948del
NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys)
NM_000238.4(KCNH2):c.1983del (p.Ile662fs) rs1584852351
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.2464G>C (p.Val822Leu) rs121912506
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_000238.4(KCNH2):c.2504G>A (p.Arg835Gln) rs794728395
NM_000238.4(KCNH2):c.2692+1G>T
NM_000238.4(KCNH2):c.2701C>T (p.Gln901Ter)
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.4(KCNH2):c.2779_2786dup (p.Glu929fs) rs1584845045
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr) rs794728402
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs)
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs)
NM_000238.4(KCNH2):c.76_76+1del rs1563193513
NM_000238.4(KCNH2):c.910_916+11del rs1563169296
NM_172056.2(KCNH2):c.1048del (p.Ala350fs) rs1064793523
NM_172056.2(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_172056.2(KCNH2):c.1132dup (p.Leu378fs) rs794728432
NM_172056.2(KCNH2):c.119C>T (p.Ala40Val) rs794728407
NM_172056.2(KCNH2):c.121G>C (p.Val41Leu) rs199472835
NM_172056.2(KCNH2):c.1238T>G (p.Leu413Arg) rs199472893
NM_172056.2(KCNH2):c.1262C>T (p.Thr421Met) rs199472894
NM_172056.2(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
NM_172056.2(KCNH2):c.1280A>G (p.Tyr427Cys) rs199472897
NM_172056.2(KCNH2):c.1282T>C (p.Ser428Pro) rs794728368
NM_172056.2(KCNH2):c.128A>G (p.Tyr43Cys) rs199472836
NM_172056.2(KCNH2):c.1293C>A (p.Phe431Leu) rs199472900
NM_172056.2(KCNH2):c.1348C>T (p.Gln450Ter) rs1563160541
NM_172056.2(KCNH2):c.1352C>T (p.Pro451Leu) rs199472902
NM_172056.2(KCNH2):c.136G>A (p.Asp46Asn) rs794728408
NM_172056.2(KCNH2):c.139G>T (p.Gly47Cys) rs794728409
NM_172056.2(KCNH2):c.1402dup (p.Leu468fs) rs869025448
NM_172056.2(KCNH2):c.1415G>C (p.Arg472Pro) rs794728369
NM_172056.2(KCNH2):c.1474C>T (p.His492Tyr) rs199472910
NM_172056.2(KCNH2):c.1478A>G (p.Tyr493Cys) rs199472911
NM_172056.2(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_172056.2(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_172056.2(KCNH2):c.157G>C (p.Gly53Arg) rs199472842
NM_172056.2(KCNH2):c.1600C>A (p.Arg534Ser) rs199472916
NM_172056.2(KCNH2):c.1610G>A (p.Arg537Gln) rs794728373
NM_172056.2(KCNH2):c.162C>A (p.Tyr54Ter) rs1554430962
NM_172056.2(KCNH2):c.164C>A (p.Ser55Ter) rs199472844
NM_172056.2(KCNH2):c.1664G>A (p.Cys555Tyr) rs1057517866
NM_172056.2(KCNH2):c.167G>A (p.Arg56Gln) rs199472845
NM_172056.2(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_172056.2(KCNH2):c.1686C>G (p.His562Gln) rs1057520477
NM_172056.2(KCNH2):c.1689G>C (p.Trp563Cys) rs199473517
NM_172056.2(KCNH2):c.1691T>A (p.Leu564Gln) rs199472924
NM_172056.2(KCNH2):c.1693G>C (p.Ala565Pro) rs199473518
NM_172056.2(KCNH2):c.1701del (p.Trp568fs) rs794728440
NM_172056.2(KCNH2):c.1704G>C (p.Trp568Cys) rs199472926
NM_172056.2(KCNH2):c.170C>T (p.Ala57Val) rs794728493
NM_172056.2(KCNH2):c.1715G>C (p.Gly572Ala) rs199473423
NM_172056.2(KCNH2):c.172G>A (p.Glu58Lys) rs199473413
NM_172056.2(KCNH2):c.1738G>C (p.Asp580His) rs786205588
NM_172056.2(KCNH2):c.1754G>T (p.Trp585Leu) rs794728484
NM_172056.2(KCNH2):c.1755G>C (p.Trp585Cys) rs199473430
NM_172056.2(KCNH2):c.1781G>A (p.Gly594Asp) rs199472931
NM_172056.2(KCNH2):c.1790A>G (p.Tyr597Cys) rs199472934
NM_172056.2(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_172056.2(KCNH2):c.1802G>A (p.Gly601Asp) rs794728480
NM_172056.2(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_172056.2(KCNH2):c.1811G>T (p.Gly604Val) rs199472937
NM_172056.2(KCNH2):c.1819A>T (p.Ile607Phe) rs1064793146
NM_172056.2(KCNH2):c.1831T>G (p.Tyr611Asp) rs199472942
NM_172056.2(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_172056.2(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_172056.2(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_172056.2(KCNH2):c.1851C>A (p.Phe617Leu) rs1057524595
NM_172056.2(KCNH2):c.1862G>A (p.Ser621Asn) rs199472948
NM_172056.2(KCNH2):c.1873G>C (p.Val625Leu) rs1563156725
NM_172056.2(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_172056.2(KCNH2):c.1876G>A (p.Gly626Ser) rs199472953
NM_172056.2(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_172056.2(KCNH2):c.1886A>C (p.Asn629Thr) rs199472957
NM_172056.2(KCNH2):c.1888G>A (p.Val630Ile) rs199472958
NM_172056.2(KCNH2):c.188C>A (p.Pro63His) rs766379103
NM_172056.2(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_172056.2(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_172056.2(KCNH2):c.1910_1912AGA[1] (p.Lys638del) rs794728442
NM_172056.2(KCNH2):c.1945+1G>A rs794728487
NM_172056.2(KCNH2):c.1946-2A>C rs794728488
NM_172056.2(KCNH2):c.1952T>G (p.Met651Arg) rs1554425569
NM_172056.2(KCNH2):c.1970G>T (p.Gly657Val) rs1085307943
NM_172056.2(KCNH2):c.1973A>G (p.Asn658Ser) rs1057523338
NM_172056.2(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_172056.2(KCNH2):c.197G>A (p.Cys66Tyr) rs1554430943
NM_172056.2(KCNH2):c.202T>C (p.Phe68Leu) rs199473417
NM_172056.2(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438
NM_172056.2(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_172056.2(KCNH2):c.2081G>A (p.Arg694His) rs794728383
NM_172056.2(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_172056.2(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_172056.2(KCNH2):c.2127_2128del (p.Asn709fs) rs1064796584
NM_172056.2(KCNH2):c.212G>A (p.Gly71Glu) rs886039183
NM_172056.2(KCNH2):c.2145+1G>A rs886039385
NM_172056.2(KCNH2):c.2146-3_2146-1delinsAA rs1554425320
NM_172056.2(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_172056.2(KCNH2):c.2162C>T (p.Pro721Leu) rs199472986
NM_172056.2(KCNH2):c.2180_2317del (p.Asp727_Ala772del) rs1554425226
NM_172056.2(KCNH2):c.2192A>C (p.His731Pro) rs794728385
NM_172056.2(KCNH2):c.2204C>T (p.Ser735Leu) rs199472988
NM_172056.2(KCNH2):c.221C>T (p.Thr74Met) rs199473422
NM_172056.2(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512
NM_172056.2(KCNH2):c.2263G>A (p.Ala755Thr) rs794728386
NM_172056.2(KCNH2):c.2266A>G (p.Met756Val) rs199473534
NM_172056.2(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_172056.2(KCNH2):c.2326C>T (p.Leu776Phe) rs771674303
NM_172056.2(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441
NM_172056.2(KCNH2):c.2360T>A (p.Ile787Asn) rs794728387
NM_172056.2(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_172056.2(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_172056.2(KCNH2):c.2396T>C (p.Leu799Pro) rs794728390
NM_172056.2(KCNH2):c.2399G>T (p.Gly800Val) rs794728391
NM_172056.2(KCNH2):c.245T>C (p.Ile82Thr) rs1563189895
NM_172056.2(KCNH2):c.275G>T (p.Arg92Leu) rs794728413
NM_172056.2(KCNH2):c.301A>G (p.Lys101Glu) rs199472856
NM_172056.2(KCNH2):c.307+2T>A rs796052196
NM_172056.2(KCNH2):c.308-2A>G rs1057520598
NM_172056.2(KCNH2):c.331_337dup (p.Val113fs) rs1554428238
NM_172056.2(KCNH2):c.379C>T (p.Leu127Phe) rs794728352
NM_172056.2(KCNH2):c.537_544dup (p.Ser182fs) rs1554427936
NM_172056.2(KCNH2):c.544_551dup (p.Ala185fs) rs1554427931
NM_172056.2(KCNH2):c.565_568del (p.Gly189fs) rs794728420
NM_172056.2(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_172056.2(KCNH2):c.77-1G>A rs794728406
NM_172056.2(KCNH2):c.774dup (p.Asp259fs) rs869025447
NM_172056.2(KCNH2):c.80G>A (p.Arg27His) rs199472828
NM_172056.2(KCNH2):c.842dup (p.Ala282fs) rs730880374
NM_172056.2(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_172056.2(KCNH2):c.916G>T (p.Gly306Trp) rs199472884
NM_172056.2(KCNH2):c.92T>A (p.Ile31Asn) rs199472833
NM_172056.2(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_172057.2(KCNH2):c.1395del (p.Phe465fs) rs1064793368
NM_172057.2(KCNH2):c.1433C>T (p.Ser478Leu) rs121912510
NM_172057.2(KCNH2):c.1448G>A (p.Arg483Gln) rs1064793147
NM_172057.2(KCNH2):c.1489G>A (p.Asp497Asn) rs199473005
NM_172057.2(KCNH2):c.1490A>G (p.Asp497Gly) rs199473004
NM_172057.2(KCNH2):c.1516C>T (p.Pro506Ser) rs199473006
NM_172057.2(KCNH2):c.1640G>A (p.Arg547His) rs199473432
NM_172057.2(KCNH2):c.1655_1659dup (p.Arg554fs) rs1131692183
NM_172057.2(KCNH2):c.1672+5G>T rs1057522921
NM_172057.2(KCNH2):c.1674_1679dup (p.Asp558_Thr559dup) rs1399804251
NM_172057.2(KCNH2):c.1704_1708dup (p.Pro570fs) rs794728449
NM_172057.2(KCNH2):c.1746del (p.Pro583fs) rs1554424403
NM_172057.2(KCNH2):c.1843C>G (p.Leu615Val) rs199473012
NM_172057.2(KCNH2):c.1867_1868delinsA (p.Pro623fs) rs1064795287
NM_172057.2(KCNH2):c.2040dup (p.Ser681fs) rs864622174
NM_172057.2(KCNH2):c.2075_2079dup (p.Pro694fs) rs794728467
NM_172057.2(KCNH2):c.2077_2078dup (p.Pro694fs) rs1554424079
NM_172057.2(KCNH2):c.2079_2089del (p.Pro694fs) rs794728466
NM_172057.2(KCNH2):c.2079_2092del (p.Pro694fs) rs1554424044
NM_172057.2(KCNH2):c.2086_2087dup (p.Asp697fs) rs794728469
NM_172057.2(KCNH2):c.2086_2092dup (p.Val698fs) rs1554424042
NM_172057.2(KCNH2):c.2105T>C (p.Leu702Pro) rs886039064
NM_172057.2(KCNH2):c.2235del (p.Pro746fs) rs1064795855
NM_172057.2(KCNH2):c.23C>T (p.Ala8Val) rs972201049
NM_172057.2(KCNH2):c.33_34del (p.Ala13fs) rs1064794494

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