ClinVar Miner

List of variants in gene KCNH2 studied for not specified

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Total variants: 138
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HGVS dbSNP
NM_000238.3(KCNH2):c.*17G>C rs1057522616
NM_000238.3(KCNH2):c.-13-30_-13-26dup rs747534042
NM_000238.3(KCNH2):c.-25C>T rs759013707
NM_000238.3(KCNH2):c.-28G>A rs778276226
NM_000238.3(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.3(KCNH2):c.1128+1739C>T rs978720357
NM_000238.3(KCNH2):c.1128+1740G>A rs967724942
NM_000238.3(KCNH2):c.1128+1775A>G rs1057523343
NM_000238.3(KCNH2):c.1128+1784C>T rs371509270
NM_000238.3(KCNH2):c.1149C>T (p.Asp383=) rs201995634
NM_000238.3(KCNH2):c.1158T>C (p.Pro386=) rs749161732
NM_000238.3(KCNH2):c.1320G>A (p.Pro440=) rs144926928
NM_000238.3(KCNH2):c.132C>T (p.Cys44=) rs199472838
NM_000238.3(KCNH2):c.1353G>A (p.Pro451=) rs763446458
NM_000238.3(KCNH2):c.1419C>T (p.Thr473=) rs1057522546
NM_000238.3(KCNH2):c.1426G>A (p.Val476Ile) rs199472908
NM_000238.3(KCNH2):c.1437C>T (p.Asn479=) rs188818227
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.1496T>G (p.Leu499Arg) rs794728370
NM_000238.3(KCNH2):c.1500C>A (p.Ile500=) rs147126965
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>C rs886039043
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.1598T>G (p.Val533Gly) rs202102276
NM_000238.3(KCNH2):c.1602C>T (p.Arg534=) rs369102529
NM_000238.3(KCNH2):c.1608G>A (p.Ala536=) rs144925439
NM_000238.3(KCNH2):c.1635C>T (p.Tyr545=) rs200692436
NM_000238.3(KCNH2):c.1641G>A (p.Ala547=) rs149902084
NM_000238.3(KCNH2):c.1644C>T (p.Ala548=) rs370764268
NM_000238.3(KCNH2):c.1648C>T (p.Leu550=) rs773783499
NM_000238.3(KCNH2):c.1674G>A (p.Ala558=) rs554855472
NM_000238.3(KCNH2):c.1683G>A (p.Ala561=) rs140366118
NM_000238.3(KCNH2):c.1692A>G (p.Leu564=) rs1805121
NM_000238.3(KCNH2):c.1800C>T (p.Ser600=) rs143518632
NM_000238.3(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.3(KCNH2):c.1847_1855del (p.Tyr616_Thr618del) rs1554425762
NM_000238.3(KCNH2):c.186A>T (p.Arg62=) rs1313067678
NM_000238.3(KCNH2):c.1945+20G>A rs1057523089
NM_000238.3(KCNH2):c.1954_1956delinsCAC (p.Tyr652His) rs794728490
NM_000238.3(KCNH2):c.1956T>C (p.Tyr652=) rs1137617
NM_000238.3(KCNH2):c.2055C>T (p.Arg685=) rs753149816
NM_000238.3(KCNH2):c.2144C>T (p.Ala715Val) rs780656919
NM_000238.3(KCNH2):c.2146-16C>T rs375568514
NM_000238.3(KCNH2):c.2190G>A (p.Leu730=) rs1401248493
NM_000238.3(KCNH2):c.2206C>T (p.Leu736=) rs1554425294
NM_000238.3(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
NM_000238.3(KCNH2):c.2265C>T (p.Ala755=) rs144308070
NM_000238.3(KCNH2):c.2331C>T (p.Thr777=) rs41307292
NM_000238.3(KCNH2):c.2376C>T (p.Gly792=) rs745993706
NM_000238.3(KCNH2):c.2382C>T (p.Val794=) rs777801910
NM_000238.3(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.3(KCNH2):c.2454G>A (p.Ser818=) rs72549418
NM_000238.3(KCNH2):c.2592+3G>A rs906562788
NM_000238.3(KCNH2):c.2595C>T (p.Thr865=) rs762327995
NM_000238.3(KCNH2):c.2607G>A (p.Pro869=) rs199828796
NM_000238.3(KCNH2):c.2624C>T (p.Thr875Met) rs140743924
NM_000238.3(KCNH2):c.2651A>G (p.Gln884Arg) rs1563149602
NM_000238.3(KCNH2):c.2653C>T (p.Arg885Cys) rs143512106
NM_000238.3(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.3(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778
NM_000238.3(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123
NM_000238.3(KCNH2):c.2692+14G>A rs774170513
NM_000238.3(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669
NM_000238.3(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435
NM_000238.3(KCNH2):c.2730G>A (p.Pro910=) rs916754925
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.2750C>T (p.Pro917Leu) rs76420733
NM_000238.3(KCNH2):c.276C>T (p.Arg92=) rs753629014
NM_000238.3(KCNH2):c.2771G>C (p.Gly924Ala) rs199473009
NM_000238.3(KCNH2):c.278A>G (p.Lys93Arg) rs780197027
NM_000238.3(KCNH2):c.2808C>T (p.Ser936=) rs1057520290
NM_000238.3(KCNH2):c.2901G>T (p.Pro967=) rs780481239
NM_000238.3(KCNH2):c.2904G>A (p.Pro968=) rs75005975
NM_000238.3(KCNH2):c.2931C>T (p.Cys977=) rs761585108
NM_000238.3(KCNH2):c.2932G>A (p.Glu978Lys) rs141117135
NM_000238.3(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375
NM_000238.3(KCNH2):c.2965+15G>A rs750330550
NM_000238.3(KCNH2):c.2994C>T (p.Phe998=) rs368954514
NM_000238.3(KCNH2):c.3007G>A (p.Asp1003Asn) rs794728402
NM_000238.3(KCNH2):c.3090G>A (p.Pro1030=) rs778604642
NM_000238.3(KCNH2):c.3097C>A (p.Arg1033=) rs199473021
NM_000238.3(KCNH2):c.3107G>A (p.Gly1036Asp) rs199473022
NM_000238.3(KCNH2):c.3108C>T (p.Gly1036=) rs373414022
NM_000238.3(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.3152+12C>A rs72549420
NM_000238.3(KCNH2):c.3153-15C>T rs41313755
NM_000238.3(KCNH2):c.3153-9C>T rs1057520425
NM_000238.3(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270
NM_000238.3(KCNH2):c.3233A>G (p.Tyr1078Cys) rs199473029
NM_000238.3(KCNH2):c.3278C>T (p.Pro1093Leu) rs199473545
NM_000238.3(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.3(KCNH2):c.3331-9G>A rs754582515
NM_000238.3(KCNH2):c.3348G>A (p.Ala1116=) rs376180501
NM_000238.3(KCNH2):c.3365C>G (p.Pro1122Arg) rs531460655
NM_000238.3(KCNH2):c.3365C>T (p.Pro1122Leu) rs531460655
NM_000238.3(KCNH2):c.3366G>A (p.Pro1122=) rs371473271
NM_000238.3(KCNH2):c.342C>T (p.Pro114=) rs532959204
NM_000238.3(KCNH2):c.345_347GAA[1] (p.Lys116del) rs864622157
NM_000238.3(KCNH2):c.387C>T (p.Phe129=) rs764831888
NM_000238.3(KCNH2):c.393G>A (p.Val131=) rs754093210
NM_000238.3(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.3(KCNH2):c.432C>T (p.Asp144=) rs369314508
NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.3(KCNH2):c.473-7C>T rs146570628
NM_000238.3(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_000238.3(KCNH2):c.524C>A (p.Ala175Asp) rs776541110
NM_000238.3(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000238.3(KCNH2):c.551_559GCGCGGGCG[1] (p.184_186GAG[1]) rs551056698
NM_000238.3(KCNH2):c.555G>A (p.Ala185=) rs894519401
NM_000238.3(KCNH2):c.558C>T (p.Gly186=) rs139533994
NM_000238.3(KCNH2):c.568G>A (p.Ala190Thr) rs150817714
NM_000238.3(KCNH2):c.598C>T (p.Leu200=) rs1057523402
NM_000238.3(KCNH2):c.617_618delinsTT (p.Ser206Ile) rs1060500660
NM_000238.3(KCNH2):c.681C>A (p.Pro227=) rs1554427841
NM_000238.3(KCNH2):c.6G>A (p.Pro2=) rs976831436
NM_000238.3(KCNH2):c.732G>T (p.Ala244=) rs1255299868
NM_000238.3(KCNH2):c.736G>T (p.Gly246Cys) rs1057520689
NM_000238.3(KCNH2):c.783G>A (p.Ser261=) rs769470521
NM_000238.3(KCNH2):c.817C>A (p.Arg273=) rs552583527
NM_000238.3(KCNH2):c.916+8C>A rs1057522524
NM_000238.3(KCNH2):c.917-18C>T rs1057520866
NM_000238.3(KCNH2):c.960G>A (p.Ser320=) rs757055211
NM_000238.3(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_172056.2(KCNH2):c.2402T>C (p.Met801Thr) rs1057520559
NM_172056.2(KCNH2):c.2414C>T (p.Ala805Val) rs201873431
NM_172056.2(KCNH2):c.2456C>A (p.Ala819Glu) rs774109163
NM_172056.2(KCNH2):c.2456C>T (p.Ala819Val) rs774109163
NM_172056.2(KCNH2):c.2469del (p.Asn823fs) rs1060499871
NM_172056.2(KCNH2):c.2503del (p.Leu835fs) rs546898924
NM_172056.2(KCNH2):c.2577G>A (p.Thr859=) rs373927190
NM_172056.2(KCNH2):c.2632C>T (p.Arg878Cys) rs370393086
NM_172057.2(KCNH2):c.15C>G (p.Ala5=) rs199794297
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872

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