ClinVar Miner

List of variants in gene KCNH2 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.*112C>T rs28763994 0.01622
NM_000238.4(KCNH2):c.1128+1929G>A rs41314390 0.01345
NM_000238.4(KCNH2):c.2146-191C>T rs116068966 0.01317
NM_000238.4(KCNH2):c.1128+131G>A rs41311015 0.01263
NM_000238.4(KCNH2):c.1128+1188G>A rs115922828 0.01219
NM_000238.4(KCNH2):c.2399-204C>A rs57900182 0.00984
NM_000238.4(KCNH2):c.2399-133G>T rs41314360 0.00948
NM_000238.4(KCNH2):c.1128+1271C>T rs114499166 0.00711
NM_000238.4(KCNH2):c.1128+2019G>A rs41313080 0.00684
NM_000238.4(KCNH2):c.1128+1400G>A rs540473463 0.00669
NM_000238.4(KCNH2):c.2693-131G>T rs7357133 0.00598
NM_000238.4(KCNH2):c.1128+222A>G rs78690808 0.00595
NM_000238.4(KCNH2):c.76+43C>G rs752475689 0.00537
NM_000238.4(KCNH2):c.2693-184_2693-183del rs41314351 0.00486
NM_000238.4(KCNH2):c.307+182C>A rs186151214 0.00482
NM_000238.4(KCNH2):c.2593-120G>C rs41314357 0.00425
NM_000238.4(KCNH2):c.2693-48C>T rs41314348 0.00408
NM_000238.4(KCNH2):c.*190C>T rs41313143 0.00377
NM_000238.4(KCNH2):c.76+37T>G rs944173406 0.00349
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354 0.00079
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000238.4(KCNH2):c.2398+234C>T rs370393086 0.00032
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.1946-9C>T rs367997739 0.00022
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554 0.00022
NM_000238.4(KCNH2):c.1128+1811G>A rs41313083 0.00018
NM_000238.4(KCNH2):c.432C>T (p.Asp144=) rs369314508 0.00016
NM_000238.4(KCNH2):c.473-7C>T rs146570628 0.00013
NM_000238.4(KCNH2):c.1641G>A (p.Ala547=) rs149902084 0.00011
NM_000238.4(KCNH2):c.1881C>T (p.Phe627=) rs199473039 0.00010
NM_000238.4(KCNH2):c.2739G>A (p.Ala913=) rs776097223 0.00010
NM_000238.4(KCNH2):c.2769G>A (p.Pro923=) rs557789224 0.00010
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=) rs200692436 0.00009
NM_000238.4(KCNH2):c.3228C>T (p.Pro1076=) rs41312087 0.00009
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=) rs745993706 0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000238.4(KCNH2):c.555G>A (p.Ala185=) rs894519401 0.00007
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.1512C>T (p.Ala504=) rs41311003 0.00005
NM_000238.4(KCNH2):c.2055C>T (p.Arg685=) rs753149816 0.00005
NM_000238.4(KCNH2):c.2931C>T (p.Cys977=) rs761585108 0.00005
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) rs374376640 0.00004
NM_000238.4(KCNH2):c.1608G>A (p.Ala536=) rs144925439 0.00004
NM_000238.4(KCNH2):c.1644C>T (p.Ala548=) rs370764268 0.00004
NM_000238.4(KCNH2):c.2142C>T (p.Asn714=) rs552000706 0.00004
NM_000238.4(KCNH2):c.2901G>A (p.Pro967=) rs780481239 0.00004
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270 0.00004
NM_000238.4(KCNH2):c.1648C>T (p.Leu550=) rs773783499 0.00003
NM_000238.4(KCNH2):c.2595C>T (p.Thr865=) rs762327995 0.00003
NM_000238.4(KCNH2):c.2624C>T (p.Thr875Met) rs140743924 0.00003
NM_000238.4(KCNH2):c.2892C>T (p.Pro964=) rs769972412 0.00003
NM_000238.4(KCNH2):c.3162C>G (p.Thr1054=) rs368701315 0.00003
NM_000238.4(KCNH2):c.504C>G (p.Pro168=) rs547228640 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.1158T>C (p.Pro386=) rs749161732 0.00002
NM_000238.4(KCNH2):c.1602C>T (p.Arg534=) rs369102529 0.00002
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000238.4(KCNH2):c.2751G>A (p.Pro917=) rs1404614771 0.00002
NM_000238.4(KCNH2):c.2967C>T (p.Gly989=) rs759887868 0.00002
NM_000238.4(KCNH2):c.3153-10C>A rs781609392 0.00002
NM_000238.4(KCNH2):c.524C>A (p.Ala175Asp) rs776541110 0.00002
NM_000238.4(KCNH2):c.-28G>A rs778276226 0.00001
NM_000238.4(KCNH2):c.132C>T (p.Cys44=) rs199472838 0.00001
NM_000238.4(KCNH2):c.1497C>T (p.Leu499=) rs926503173 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.2077C>T (p.Leu693=) rs1380382303 0.00001
NM_000238.4(KCNH2):c.2091C>T (p.Leu697=) rs968886132 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.2692+14G>A rs774170513 0.00001
NM_000238.4(KCNH2):c.276C>T (p.Arg92=) rs753629014 0.00001
NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile) rs794728346 0.00001
NM_000238.4(KCNH2):c.387C>T (p.Phe129=) rs764831888 0.00001
NM_000238.4(KCNH2):c.675C>T (p.Leu225=) rs760401552 0.00001
NM_000238.4(KCNH2):c.736G>T (p.Gly246Cys) rs1057520689 0.00001
NM_000238.4(KCNH2):c.77-13C>T rs771793839 0.00001
NM_000238.4(KCNH2):c.917-18C>T rs1057520866 0.00001
NC_000007.14:g.150978408_150978409insA rs564230054
NC_000007.14:g.150978411C>A rs189034123
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.1053G>A (p.Ser351=) rs766203252
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.1342G>T (p.Ala448Ser) rs767723985
NM_000238.4(KCNH2):c.1419C>T (p.Thr473=) rs1057522546
NM_000238.4(KCNH2):c.1467C>A (p.Ile489=) rs740952
NM_000238.4(KCNH2):c.1500C>A (p.Ile500=) rs147126965
NM_000238.4(KCNH2):c.1509G>A (p.Val503=) rs967889413
NM_000238.4(KCNH2):c.1674G>A (p.Ala558=) rs554855472
NM_000238.4(KCNH2):c.1945+20G>A rs1057523089
NM_000238.4(KCNH2):c.2206C>T (p.Leu736=) rs1554425294
NM_000238.4(KCNH2):c.2398+105del rs546898924
NM_000238.4(KCNH2):c.2398+10G>A rs750281789
NM_000238.4(KCNH2):c.2398+4T>C rs1057520559
NM_000238.4(KCNH2):c.2398+58C>T rs774109163
NM_000238.4(KCNH2):c.2692+7C>G rs372023163
NM_000238.4(KCNH2):c.278A>G (p.Lys93Arg) rs780197027
NM_000238.4(KCNH2):c.2808C>T (p.Ser936=) rs1057520290
NM_000238.4(KCNH2):c.2901G>T (p.Pro967=) rs780481239
NM_000238.4(KCNH2):c.2965+15G>A rs750330550
NM_000238.4(KCNH2):c.300G>T (p.Arg100=) rs761176105
NM_000238.4(KCNH2):c.3054C>T (p.Pro1018=) rs1452266394
NM_000238.4(KCNH2):c.307+312G>C rs116568934
NM_000238.4(KCNH2):c.3097C>A (p.Arg1033=) rs199473021
NM_000238.4(KCNH2):c.3153-59C>G rs568807354
NM_000238.4(KCNH2):c.3153-9C>T rs1057520425
NM_000238.4(KCNH2):c.393G>A (p.Val131=) rs754093210
NM_000238.4(KCNH2):c.472+117dup rs60930392
NM_000238.4(KCNH2):c.598C>T (p.Leu200=) rs1057523402
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.754C>A (p.Arg252=) rs199472874
NM_000238.4(KCNH2):c.916+8C>A rs1057522524
NM_000238.4(KCNH2):c.960G>A (p.Ser320=) rs757055211

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