ClinVar Miner

List of variants in gene KCNH2 reported as likely pathogenic for congenital heart disease

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 128
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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.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
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.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+1810C>T rs972201049 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.1474C>T (p.His492Tyr) rs199472910 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.1979C>T (p.Ser660Leu) rs199472979 0.00001
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys) rs778135438 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.2467C>T (p.Arg823Trp) rs199473538 0.00001
NC_000007.13:g.(?_150644396)_(150649961_?)dup
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter) rs1801410644
NM_000238.4(KCNH2):c.1093del (p.Glu365fs)
NM_000238.4(KCNH2):c.1128+1G>A rs1405113457
NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC rs2116997026
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.4(KCNH2):c.1129-831_3109dup
NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg) rs199472893
NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys) rs199472897
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.139G>T (p.Gly47Cys) rs794728409
NM_000238.4(KCNH2):c.1402dup (p.Leu468fs) rs869025448
NM_000238.4(KCNH2):c.1415G>A (p.Arg472His)
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.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.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro) rs1801182500
NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His)
NM_000238.4(KCNH2):c.1663T>C (p.Cys555Arg)
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.1684C>T (p.His562Tyr) rs794728481
NM_000238.4(KCNH2):c.1685A>C (p.His562Pro) rs199472922
NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln) rs199472924
NM_000238.4(KCNH2):c.1694C>G (p.Ala565Gly)
NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys) rs199472926
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.1745G>T (p.Arg582Leu) rs199473426
NM_000238.4(KCNH2):c.1754G>A (p.Trp585Ter)
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
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)
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.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn) rs199472948
NM_000238.4(KCNH2):c.1868C>T (p.Thr623Ile) rs199472950
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.1887C>A (p.Asn629Lys) rs41307295
NM_000238.4(KCNH2):c.1888G>C (p.Val630Leu) rs199472958
NM_000238.4(KCNH2):c.1900A>G (p.Thr634Ala) rs794728377
NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys)
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del) rs794728442
NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg)
NM_000238.4(KCNH2):c.1946-4_1948del rs1801137678
NM_000238.4(KCNH2):c.1952T>G (p.Met651Arg) rs1554425569
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.4(KCNH2):c.197G>A (p.Cys66Tyr) rs1554430943
NM_000238.4(KCNH2):c.1983del (p.Ile662fs) rs1584852351
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>C
NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA rs1554425320
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu) rs199472986
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro) rs1801084514
NM_000238.4(KCNH2):c.2398+1G>T rs794728391
NM_000238.4(KCNH2):c.2398+5G>A
NM_000238.4(KCNH2):c.2398+5G>T rs1554425149
NM_000238.4(KCNH2):c.2398_2398+21del
NM_000238.4(KCNH2):c.2399-108_2488del rs2116940777
NM_000238.4(KCNH2):c.2399-2A>G
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr) rs1563189895
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.2592+1G>A rs1554424772
NM_000238.4(KCNH2):c.2593-1G>C
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs) rs1131692183
NM_000238.4(KCNH2):c.2676del (p.Arg893fs) rs1801005389
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs) rs864622174
NM_000238.4(KCNH2):c.307+2T>A rs796052196
NM_000238.4(KCNH2):c.308-2A>G rs1057520598
NM_000238.4(KCNH2):c.3152+1G>T rs1057518151
NM_000238.4(KCNH2):c.3153-1G>C
NM_000238.4(KCNH2):c.322T>C (p.Cys108Arg) rs199472859
NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs)
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs) rs1800857447
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.66dup (p.Glu23Ter) rs1554431441
NM_000238.4(KCNH2):c.76+1G>A rs2117072529
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.774dup (p.Asp259fs) rs869025447
NM_000238.4(KCNH2):c.80del (p.Arg27fs) rs2117063981
NM_000238.4(KCNH2):c.842dup (p.Ala282fs) rs730880374
NM_000238.4(KCNH2):c.910_916+11del rs1563169296
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.917-2A>G rs2116999316
NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn) rs199472833
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487

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