ClinVar Miner

List of variants in gene KCNH2 studied for not specified

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Gene type:
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Total variants: 170
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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.*15G>A rs41313746 0.01245
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
NM_000238.4(KCNH2):c.1128+1784C>T rs371509270 0.00302
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_000238.4(KCNH2):c.621C>T (p.Ser207=) rs41314417 0.00289
NM_000238.4(KCNH2):c.3153-15C>T rs41313755 0.00256
NM_000238.4(KCNH2):c.558C>T (p.Gly186=) rs139533994 0.00228
NM_000238.4(KCNH2):c.1129-18C>T rs78794789 0.00156
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870 0.00134
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.2617G>A (p.Gly873Ser) rs41314354 0.00079
NM_000238.4(KCNH2):c.2145+16C>T rs41314369 0.00078
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr) rs150817714 0.00076
NM_000238.4(KCNH2):c.1353G>A (p.Pro451=) rs763446458 0.00067
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.2965+14C>T rs201706355 0.00040
NM_000238.4(KCNH2):c.1128+1865C>T rs200324802 0.00038
NM_000238.4(KCNH2):c.2398+234C>T rs370393086 0.00032
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) rs72549418 0.00029
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=) rs199767579 0.00029
NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=) rs371473271 0.00029
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00028
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207 0.00026
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu) rs199473436 0.00023
NM_000238.4(KCNH2):c.2398+16C>T rs201873431 0.00022
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554 0.00022
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000238.4(KCNH2):c.1128+1811G>A rs41313083 0.00018
NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=) rs189457419 0.00017
NM_000238.4(KCNH2):c.432C>T (p.Asp144=) rs369314508 0.00016
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp) rs199473022 0.00013
NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=) rs376180501 0.00012
NM_000238.4(KCNH2):c.2739G>A (p.Ala913=) rs776097223 0.00010
NM_000238.4(KCNH2):c.1800C>T (p.Ser600=) rs143518632 0.00009
NM_000238.4(KCNH2):c.2145+9A>T rs371749379 0.00009
NM_000238.4(KCNH2):c.2398+179G>A rs373927190 0.00009
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_000238.4(KCNH2):c.1437C>T (p.Asn479=) rs188818227 0.00008
NM_000238.4(KCNH2):c.2904G>A (p.Pro968=) rs75005975 0.00008
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) rs199472885 0.00008
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=) rs745993706 0.00007
NM_000238.4(KCNH2):c.3278C>T (p.Pro1093Leu) rs199473545 0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000238.4(KCNH2):c.1683G>A (p.Ala561=) rs140366118 0.00006
NM_000238.4(KCNH2):c.1839G>A (p.Thr613=) rs146309583 0.00006
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778 0.00006
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys) rs141117135 0.00006
NM_000238.4(KCNH2):c.3090G>A (p.Pro1030=) rs778604642 0.00006
NM_000238.4(KCNH2):c.3108C>T (p.Gly1036=) rs373414022 0.00006
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met) rs199473544 0.00006
NM_000238.4(KCNH2):c.342C>T (p.Pro114=) rs532959204 0.00006
NM_000238.4(KCNH2):c.2055C>T (p.Arg685=) rs753149816 0.00005
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) rs374376640 0.00004
NM_000238.4(KCNH2):c.1945+18C>T rs778276270 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.2994C>T (p.Phe998=) rs368954514 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.823A>C (p.Ser275Arg) rs1268162009 0.00004
NM_000238.4(KCNH2):c.1648C>T (p.Leu550=) rs773783499 0.00003
NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val) rs780656919 0.00003
NM_000238.4(KCNH2):c.2146-16C>T rs375568514 0.00003
NM_000238.4(KCNH2):c.2595C>T (p.Thr865=) rs762327995 0.00003
NM_000238.4(KCNH2):c.2607G>A (p.Pro869=) rs199828796 0.00003
NM_000238.4(KCNH2):c.2624C>T (p.Thr875Met) rs140743924 0.00003
NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu) rs749759697 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) rs373394254 0.00003
NM_000238.4(KCNH2):c.6G>A (p.Pro2=) rs976831436 0.00003
NM_000238.4(KCNH2):c.1128+1740G>A rs967724942 0.00002
NM_000238.4(KCNH2):c.1149C>T (p.Asp383=) rs201995634 0.00002
NM_000238.4(KCNH2):c.1158T>C (p.Pro386=) rs749161732 0.00002
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000238.4(KCNH2):c.1602C>T (p.Arg534=) rs369102529 0.00002
NM_000238.4(KCNH2):c.2190G>A (p.Leu730=) rs1401248493 0.00002
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000238.4(KCNH2):c.3007G>A (p.Asp1003Asn) rs794728402 0.00002
NM_000238.4(KCNH2):c.3233A>G (p.Tyr1078Cys) rs199473029 0.00002
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile) rs199473030 0.00002
NM_000238.4(KCNH2):c.524C>A (p.Ala175Asp) rs776541110 0.00002
NM_000238.4(KCNH2):c.817C>A (p.Arg273=) rs552583527 0.00002
NM_000238.4(KCNH2):c.132C>T (p.Cys44=) rs199472838 0.00001
NM_000238.4(KCNH2):c.1426G>A (p.Val476Ile) rs199472908 0.00001
NM_000238.4(KCNH2):c.156C>T (p.Cys52=) rs754921704 0.00001
NM_000238.4(KCNH2):c.186A>T (p.Arg62=) rs1313067678 0.00001
NM_000238.4(KCNH2):c.1946-8G>A rs1384850938 0.00001
NM_000238.4(KCNH2):c.2265C>T (p.Ala755=) rs144308070 0.00001
NM_000238.4(KCNH2):c.2382C>T (p.Val794=) rs777801910 0.00001
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) rs199473432 0.00001
NM_000238.4(KCNH2):c.2692+14G>A rs774170513 0.00001
NM_000238.4(KCNH2):c.276C>T (p.Arg92=) rs753629014 0.00001
NM_000238.4(KCNH2):c.2778G>A (p.Pro926=) rs898987242 0.00001
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) rs786205422 0.00001
NM_000238.4(KCNH2):c.387C>T (p.Phe129=) rs764831888 0.00001
NM_000238.4(KCNH2):c.473-6C>T rs751673669 0.00001
NM_000238.4(KCNH2):c.736G>T (p.Gly246Cys) rs1057520689 0.00001
NM_000238.4(KCNH2):c.917-18C>T rs1057520866 0.00001
NM_000238.4(KCNH2):c.*17G>C rs1057522616
NM_000238.4(KCNH2):c.-25C>T rs759013707
NM_000238.4(KCNH2):c.-53CCGGG[4] rs747534042
NM_000238.4(KCNH2):c.-9G>A rs1287855282
NM_000238.4(KCNH2):c.1056C>T (p.Pro352=) rs1554427342
NM_000238.4(KCNH2):c.1128+1739C>T rs978720357
NM_000238.4(KCNH2):c.1128+1775A>G rs1057523343
NM_000238.4(KCNH2):c.1128+1802C>G rs199794297
NM_000238.4(KCNH2):c.1320G>A (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile) rs199472905
NM_000238.4(KCNH2):c.1419C>T (p.Thr473=) rs1057522546
NM_000238.4(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.4(KCNH2):c.1500C>T (p.Ile500=) rs147126965
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1598T>G (p.Val533Gly) rs202102276
NM_000238.4(KCNH2):c.1674G>A (p.Ala558=) rs554855472
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.4(KCNH2):c.1945+20G>A rs1057523089
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
NM_000238.4(KCNH2):c.235G>A (p.Ala79Thr) rs794728494
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.4(KCNH2):c.2398+105del rs546898924
NM_000238.4(KCNH2):c.2398+4T>C rs1057520559
NM_000238.4(KCNH2):c.2398+58C>A rs774109163
NM_000238.4(KCNH2):c.2398+58C>T rs774109163
NM_000238.4(KCNH2):c.2398+71del rs1060499871
NM_000238.4(KCNH2):c.2437G>A (p.Ala813Thr) rs1801032078
NM_000238.4(KCNH2):c.2482T>C (p.Cys828Arg) rs1801029729
NM_000238.4(KCNH2):c.2592+3G>A rs906562788
NM_000238.4(KCNH2):c.2651A>G (p.Gln884Arg) rs1563149602
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) rs143512106
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.4(KCNH2):c.2692+7C>G rs372023163
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala) rs199473009
NM_000238.4(KCNH2):c.2808C>T (p.Ser936=) rs1057520290
NM_000238.4(KCNH2):c.2892C>G (p.Pro964=) rs769972412
NM_000238.4(KCNH2):c.2901G>T (p.Pro967=) rs780481239
NM_000238.4(KCNH2):c.2965+15G>A rs750330550
NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs) rs1554424085
NM_000238.4(KCNH2):c.3097C>A (p.Arg1033=) rs199473021
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.3153-9C>T rs1057520425
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.3331-9G>A rs754582515
NM_000238.4(KCNH2):c.3365C>G (p.Pro1122Arg) rs531460655
NM_000238.4(KCNH2):c.3384C>T (p.Pro1128=) rs2116917718
NM_000238.4(KCNH2):c.345GAA[1] (p.Lys116del) rs864622157
NM_000238.4(KCNH2):c.393G>A (p.Val131=) rs754093210
NM_000238.4(KCNH2):c.499C>G (p.Leu167Val) rs1801462947
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000238.4(KCNH2):c.551GCGCGGGCG[4] (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly) rs551056698
NM_000238.4(KCNH2):c.598C>T (p.Leu200=) rs1057523402
NM_000238.4(KCNH2):c.617_618delinsTT (p.Ser206Ile) rs1060500660
NM_000238.4(KCNH2):c.681C>A (p.Pro227=) rs1554427841
NM_000238.4(KCNH2):c.732G>T (p.Ala244=) rs1255299868
NM_000238.4(KCNH2):c.77-5C>G rs72549419
NM_000238.4(KCNH2):c.774C>T (p.Pro258=) rs1554427740
NM_000238.4(KCNH2):c.916+8C>A rs1057522524
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872

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