ClinVar Miner

List of variants in gene KCNH2 reported by Ambry Genetics

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Gene type:
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Total variants: 145
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HGVS dbSNP
NM_000238.3(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.3(KCNH2):c.1056C>T (p.Pro352=) rs1554427342
NM_000238.3(KCNH2):c.1067G>A (p.Arg356His) rs730880118
NM_000238.3(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.3(KCNH2):c.1131C>T (p.Val377=) rs1251473864
NM_000238.3(KCNH2):c.1189C>T (p.Arg397Cys) rs1060500663
NM_000238.3(KCNH2):c.1226T>A (p.Val409Glu) rs794728367
NM_000238.3(KCNH2):c.1280A>C (p.Tyr427Ser) rs199472897
NM_000238.3(KCNH2):c.1291T>C (p.Phe431Leu) rs1554426244
NM_000238.3(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.3(KCNH2):c.1332G>A (p.Glu444=) rs9770044
NM_000238.3(KCNH2):c.1353G>A (p.Pro451=) rs763446458
NM_000238.3(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.3(KCNH2):c.1471G>A (p.Val491Ile) rs374376640
NM_000238.3(KCNH2):c.1500C>T (p.Ile500=) rs147126965
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.1528C>T (p.Leu510=) rs75648145
NM_000238.3(KCNH2):c.1539C>T (p.Phe513=) rs1805120
NM_000238.3(KCNH2):c.1557+1G>A rs886039043
NM_000238.3(KCNH2):c.1558-5C>T rs114186001
NM_000238.3(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.3(KCNH2):c.156C>T (p.Cys52=) rs754921704
NM_000238.3(KCNH2):c.1581G>A (p.Ala527=) rs150275982
NM_000238.3(KCNH2):c.1603G>A (p.Val535Met) rs375872367
NM_000238.3(KCNH2):c.1620del (p.Arg541fs) rs1554425955
NM_000238.3(KCNH2):c.162C>G (p.Tyr54Ter) rs1554430962
NM_000238.3(KCNH2):c.1644C>T (p.Ala548=) rs370764268
NM_000238.3(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918
NM_000238.3(KCNH2):c.1680C>T (p.Ile560=) rs372725107
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.1692A>G (p.Leu564=) rs1805121
NM_000238.3(KCNH2):c.1693G>T (p.Ala565Ser) rs199473518
NM_000238.3(KCNH2):c.1704G>A (p.Trp568Ter) rs199472926
NM_000238.3(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.3(KCNH2):c.1800C>T (p.Ser600=) rs143518632
NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.3(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.3(KCNH2):c.1809C>T (p.Gly603=) rs41314375
NM_000238.3(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.3(KCNH2):c.1842G>A (p.Ala614=) rs746863761
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.1923C>T (p.Ser641=) rs142249065
NM_000238.3(KCNH2):c.1956T>C (p.Tyr652=) rs1137617
NM_000238.3(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_000238.3(KCNH2):c.2037G>A (p.Arg679=) rs1554425500
NM_000238.3(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_000238.3(KCNH2):c.2127C>T (p.Asn709=) rs768572372
NM_000238.3(KCNH2):c.212G>A (p.Gly71Glu) rs886039183
NM_000238.3(KCNH2):c.2133C>T (p.Ile711=) rs562349092
NM_000238.3(KCNH2):c.2144C>T (p.Ala715Val) rs780656919
NM_000238.3(KCNH2):c.2145+3G>A rs1378166842
NM_000238.3(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.3(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.3(KCNH2):c.2236del (p.Ala746fs) rs1554425277
NM_000238.3(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_000238.3(KCNH2):c.2296G>A (p.Gly766Arg) rs1057524377
NM_000238.3(KCNH2):c.2343C>G (p.Phe781Leu) rs886039215
NM_000238.3(KCNH2):c.234_241del (p.Ala79fs) rs886039045
NM_000238.3(KCNH2):c.2366T>C (p.Ile789Thr) rs794728388
NM_000238.3(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_000238.3(KCNH2):c.2376C>T (p.Gly792=) rs745993706
NM_000238.3(KCNH2):c.2387T>G (p.Val796Gly) rs1554425163
NM_000238.3(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.3(KCNH2):c.2442_2451del (p.Arg814fs) rs1554424849
NM_000238.3(KCNH2):c.2454G>A (p.Ser818=) rs72549418
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.2525T>C (p.Leu842Pro) rs1554424818
NM_000238.3(KCNH2):c.2584C>T (p.Leu862=) rs1554424783
NM_000238.3(KCNH2):c.2587C>T (p.Arg863Ter) rs773724817
NM_000238.3(KCNH2):c.2595C>T (p.Thr865=) rs762327995
NM_000238.3(KCNH2):c.2616C>A (p.Pro872=) rs374296728
NM_000238.3(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778
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.2690A>C (p.Lys897Thr) rs1805123
NM_000238.3(KCNH2):c.2696C>G (p.Thr899Arg) rs1480554629
NM_000238.3(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669
NM_000238.3(KCNH2):c.2729C>T (p.Pro910Leu) rs199473436
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2739G>A (p.Ala913=) rs776097223
NM_000238.3(KCNH2):c.2759G>A (p.Arg920Gln) rs199473670
NM_000238.3(KCNH2):c.2763_2772del (p.Arg922fs) rs1554424390
NM_000238.3(KCNH2):c.2769G>A (p.Pro923=) rs557789224
NM_000238.3(KCNH2):c.2770G>T (p.Gly924Trp) rs794728397
NM_000238.3(KCNH2):c.2771G>A (p.Gly924Glu) rs199473009
NM_000238.3(KCNH2):c.2771G>C (p.Gly924Ala) rs199473009
NM_000238.3(KCNH2):c.2775dup (p.Pro926fs) rs794728455
NM_000238.3(KCNH2):c.278A>G (p.Lys93Arg) rs780197027
NM_000238.3(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000238.3(KCNH2):c.2900C>T (p.Pro967Leu) rs199473016
NM_000238.3(KCNH2):c.2904G>A (p.Pro968=) rs75005975
NM_000238.3(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554
NM_000238.3(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.3(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_000238.3(KCNH2):c.3063C>T (p.Ser1021=) rs199767579
NM_000238.3(KCNH2):c.3075C>T (p.Ile1025=) rs76547432
NM_000238.3(KCNH2):c.307_307+1delGGinsTT rs1554430850
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.3094del (p.Arg1032fs) rs864622309
NM_000238.3(KCNH2):c.3107dup (p.Asp1037fs) rs794728469
NM_000238.3(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.3(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.3153-4C>T rs181119727
NM_000238.3(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270
NM_000238.3(KCNH2):c.3193C>T (p.Gln1065Ter) rs1554423871
NM_000238.3(KCNH2):c.3203A>G (p.Gln1068Arg) rs151031345
NM_000238.3(KCNH2):c.3228C>T (p.Pro1076=) rs41312087
NM_000238.3(KCNH2):c.3251C>T (p.Pro1084Leu) rs762510312
NM_000238.3(KCNH2):c.3264C>G (p.Pro1088=) rs1554423761
NM_000238.3(KCNH2):c.3279G>A (p.Pro1093=) rs202198564
NM_000238.3(KCNH2):c.3289G>A (p.Val1097Ile) rs199473030
NM_000238.3(KCNH2):c.3321G>A (p.Ser1107=) rs189457419
NM_000238.3(KCNH2):c.3330+1G>A rs1368439403
NM_000238.3(KCNH2):c.3390A>G (p.Glu1130=) rs41313068
NM_000238.3(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572
NM_000238.3(KCNH2):c.374T>G (p.Phe125Cys) rs199473499
NM_000238.3(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.3(KCNH2):c.453del (p.Thr152fs) rs761863251
NM_000238.3(KCNH2):c.473-5C>T rs1181633993
NM_000238.3(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_000238.3(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000238.3(KCNH2):c.542G>A (p.Arg181Gln) rs41308954
NM_000238.3(KCNH2):c.551_559GCGCGGGCG[1] (p.184_186GAG[1]) rs551056698
NM_000238.3(KCNH2):c.558C>T (p.Gly186=) rs139533994
NM_000238.3(KCNH2):c.607G>A (p.Ala203Thr) rs199472868
NM_000238.3(KCNH2):c.621C>T (p.Ser207=) rs41314417
NM_000238.3(KCNH2):c.695G>T (p.Arg232Leu) rs886039160
NM_000238.3(KCNH2):c.720G>A (p.Pro240=) rs899939755
NM_000238.3(KCNH2):c.805_808delinsAGT (p.Arg269fs) rs1554427697
NM_000238.3(KCNH2):c.811_812insA (p.Arg271fs) rs1554427692
NM_000238.3(KCNH2):c.865G>A (p.Glu289Lys) rs199472880
NM_000238.3(KCNH2):c.901_905CGCCA[3] (p.Ser304fs) rs1554427596
NM_000238.3(KCNH2):c.916+3G>A rs1554427591
NM_000238.3(KCNH2):c.980A>G (p.Tyr327Cys) rs886039013
NM_000238.3(KCNH2):c.982C>T (p.Arg328Cys) rs199473505

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