ClinVar Miner

List of variants in gene KCNH2 reported by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) rs1137617 0.70278
NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) rs1805121 0.51247
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=) rs1805120 0.25427
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_000238.4(KCNH2):c.*112C>T rs28763994 0.01622
NM_000238.4(KCNH2):c.1809C>T (p.Gly603=) rs41314375 0.01398
NM_000238.4(KCNH2):c.*15G>A rs41313746 0.01245
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
NM_000238.4(KCNH2):c.1558-5C>T rs114186001 0.00642
NM_000238.4(KCNH2):c.*190C>T rs41313143 0.00377
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_000238.4(KCNH2):c.*228G>A rs142254068 0.00179
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) rs150275982 0.00096
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=) rs75648145 0.00085
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000238.4(KCNH2):c.*397T>C rs41312081 0.00078
NM_000238.4(KCNH2):c.*147T>A rs763602928 0.00071
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) rs72549418 0.00029
NM_000238.4(KCNH2):c.2730G>A (p.Pro910=) rs916754925 0.00028
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207 0.00026
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000238.4(KCNH2):c.*268C>T rs947572405 0.00013
NM_000238.4(KCNH2):c.1641G>A (p.Ala547=) rs149902084 0.00011
NM_000238.4(KCNH2):c.*56C>T rs778899457 0.00010
NM_000238.4(KCNH2):c.2739G>A (p.Ala913=) rs776097223 0.00010
NM_000238.4(KCNH2):c.-174G>A rs575698405 0.00009
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=) rs200692436 0.00009
NM_000238.4(KCNH2):c.2145+9A>T rs371749379 0.00009
NM_000238.4(KCNH2):c.3228C>T (p.Pro1076=) rs41312087 0.00009
NM_000238.4(KCNH2):c.1341C>T (p.Tyr447=) rs367570298 0.00008
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000238.4(KCNH2):c.2127C>T (p.Asn709=) rs768572372 0.00006
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) rs794728399 0.00006
NM_000238.4(KCNH2):c.3153-13C>T rs372337645 0.00006
NM_000238.4(KCNH2):c.342C>T (p.Pro114=) rs532959204 0.00006
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572 0.00005
NM_000238.4(KCNH2):c.864C>T (p.Ile288=) rs915031143 0.00005
NM_000238.4(KCNH2):c.-207C>T rs886062091 0.00004
NM_000238.4(KCNH2):c.1644C>T (p.Ala548=) rs370764268 0.00004
NM_000238.4(KCNH2):c.2793G>A (p.Pro931=) rs200976506 0.00004
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270 0.00004
NM_000238.4(KCNH2):c.783G>A (p.Ser261=) rs769470521 0.00004
NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=) rs781274793 0.00003
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) rs373394254 0.00003
NM_000238.4(KCNH2):c.504C>G (p.Pro168=) rs547228640 0.00003
NM_000238.4(KCNH2):c.-33T>C rs747433742 0.00002
NM_000238.4(KCNH2):c.2238C>G (p.Ala746=) rs765110115 0.00002
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000238.4(KCNH2):c.2903C>T (p.Pro968Leu) rs199473017 0.00002
NM_000238.4(KCNH2):c.524C>A (p.Ala175Asp) rs776541110 0.00002
NM_000238.4(KCNH2):c.1035C>T (p.Gly345=) rs576125279 0.00001
NM_000238.4(KCNH2):c.1330G>A (p.Glu444Lys) rs201268831 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.1707C>T (p.Tyr569=) rs777831008 0.00001
NM_000238.4(KCNH2):c.2382C>T (p.Val794=) rs777801910 0.00001
NM_000238.4(KCNH2):c.2965+11C>T rs770052290 0.00001
NM_000238.4(KCNH2):c.3215C>T (p.Thr1072Met) rs781624566 0.00001
NM_000238.4(KCNH2):c.3416C>T (p.Pro1139Leu) rs886062086 0.00001
NM_000238.4(KCNH2):c.897A>G (p.Pro299=) rs886062090 0.00001
NM_000238.4(KCNH2):c.930A>G (p.Pro310=) rs745496986 0.00001
NM_000238.4(KCNH2):c.961G>T (p.Asp321Tyr) rs886062089 0.00001
NM_000238.4(KCNH2):c.*195C>A rs886062085
NM_000238.4(KCNH2):c.*367C>A rs886062084
NM_000238.4(KCNH2):c.*92C>G rs149750773
NM_000238.4(KCNH2):c.*92C>T rs149750773
NM_000238.4(KCNH2):c.-245C>T rs1311309459
NM_000238.4(KCNH2):c.-272C>T rs886062092
NM_000238.4(KCNH2):c.-45G>A rs1802020795
NM_000238.4(KCNH2):c.1053G>A (p.Ser351=) rs766203252
NM_000238.4(KCNH2):c.1126C>G (p.Gln376Glu) rs1801405757
NM_000238.4(KCNH2):c.1308G>A (p.Thr436=) rs527911312
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.1397A>G (p.Asp466Gly) rs1584856497
NM_000238.4(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1600C>G (p.Arg534Gly) rs199472916
NM_000238.4(KCNH2):c.1612A>G (p.Lys538Glu) rs886062088
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000238.4(KCNH2):c.1771G>A (p.Asp591Asn) rs376319070
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.237C>G (p.Ala79=) rs1060503994
NM_000238.4(KCNH2):c.2768C>T (p.Pro923Leu) rs760408746
NM_000238.4(KCNH2):c.2890C>G (p.Pro964Ala) rs886062087
NM_000238.4(KCNH2):c.2965+15G>A rs750330550
NM_000238.4(KCNH2):c.3058C>T (p.Pro1020Ser) rs41307274
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.3163C>T (p.Arg1055Trp) rs541259035
NM_000238.4(KCNH2):c.3171T>C (p.Ser1057=) rs1363636593
NM_000238.4(KCNH2):c.3322C>G (p.Leu1108Val) rs199473031
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.675C>G (p.Leu225=) rs760401552
NM_000238.4(KCNH2):c.684G>A (p.Ala228=) rs1350217087
NM_000238.4(KCNH2):c.732G>T (p.Ala244=) rs1255299868
NM_000238.4(KCNH2):c.77-5C>G rs72549419
NM_000238.4(KCNH2):c.77-6C>G rs1474982625
NM_000238.4(KCNH2):c.825C>G (p.Ser275Arg) rs1801442023
NM_000238.4(KCNH2):c.853G>T (p.Ala285Ser) rs864622366
NM_000238.4(KCNH2):c.868G>T (p.Ala290Ser) rs532891158

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