ClinVar Miner

List of variants in gene KCNH2 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00028
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu) rs199473436 0.00023
NM_000238.4(KCNH2):c.707G>T (p.Gly236Val) rs199472870 0.00023
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000238.4(KCNH2):c.355G>C (p.Asp119His) rs376308069 0.00015
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp) rs199473022 0.00013
NM_000238.4(KCNH2):c.3089C>T (p.Pro1030Leu) rs904066540 0.00011
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn) rs569452580 0.00010
NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg) rs151031345 0.00009
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) rs140279503 0.00006
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) rs794728399 0.00006
NM_000238.4(KCNH2):c.440A>G (p.His147Arg) rs768938134 0.00006
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000238.4(KCNH2):c.2696C>T (p.Thr899Met) rs1480554629 0.00005
NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys) rs563611707 0.00005
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln) rs374912424 0.00005
NM_000238.4(KCNH2):c.1128+1869C>T rs62492438 0.00004
NM_000238.4(KCNH2):c.1307C>T (p.Thr436Met) rs199472901 0.00004
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) rs199473532 0.00004
NM_000238.4(KCNH2):c.2398+156G>A rs139247073 0.00004
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) rs765427343 0.00004
NM_000238.4(KCNH2):c.2675G>A (p.Arg892His) rs774216337 0.00004
NM_000238.4(KCNH2):c.2810G>A (p.Ser937Asn) rs199473540 0.00004
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp) rs199473021 0.00004
NM_000238.4(KCNH2):c.3229G>A (p.Ala1077Thr) rs201382073 0.00004
NM_000238.4(KCNH2):c.3347C>T (p.Ala1116Val) rs199473032 0.00004
NM_000238.4(KCNH2):c.391G>T (p.Val131Leu) rs142590566 0.00004
NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg) rs1268162009 0.00004
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His) rs730880118 0.00003
NM_000238.4(KCNH2):c.1128+1830C>T rs778819756 0.00003
NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala) rs751559990 0.00003
NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu) rs531460655 0.00003
NM_000238.4(KCNH2):c.3470C>T (p.Pro1157Leu) rs143167166 0.00003
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000238.4(KCNH2):c.2398+235G>A rs971751063 0.00002
NM_000238.4(KCNH2):c.2504G>A (p.Arg835Gln) rs794728395 0.00002
NM_000238.4(KCNH2):c.2759G>A (p.Arg920Gln) rs199473670 0.00002
NM_000238.4(KCNH2):c.3007G>A (p.Asp1003Asn) rs794728402 0.00002
NM_000238.4(KCNH2):c.3049G>T (p.Ala1017Ser) rs950543448 0.00002
NM_000238.4(KCNH2):c.3052C>G (p.Pro1018Ala) rs41313764 0.00002
NM_000238.4(KCNH2):c.3103C>T (p.Arg1035Trp) rs199473543 0.00002
NM_000238.4(KCNH2):c.3104G>A (p.Arg1035Gln) rs761933920 0.00002
NM_000238.4(KCNH2):c.3139C>T (p.Arg1047Cys) rs377095107 0.00002
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile) rs199473030 0.00002
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_000238.4(KCNH2):c.398T>C (p.Met133Thr) rs794728353 0.00002
NM_000238.4(KCNH2):c.580G>A (p.Val194Met) rs1293129095 0.00002
NM_000238.4(KCNH2):c.983G>A (p.Arg328His) rs747437736 0.00002
NM_000238.4(KCNH2):c.1128+1810C>T rs972201049 0.00001
NM_000238.4(KCNH2):c.1128+1860C>T rs767264288 0.00001
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu) rs199472899 0.00001
NM_000238.4(KCNH2):c.1319C>T (p.Pro440Leu) rs199473509 0.00001
NM_000238.4(KCNH2):c.1330G>A (p.Glu444Lys) rs201268831 0.00001
NM_000238.4(KCNH2):c.136G>A (p.Asp46Asn) rs794728408 0.00001
NM_000238.4(KCNH2):c.1582C>T (p.Arg528Trp) rs864622403 0.00001
NM_000238.4(KCNH2):c.2092G>A (p.Glu698Lys) rs753966347 0.00001
NM_000238.4(KCNH2):c.2200C>T (p.Arg734Cys) rs143072395 0.00001
NM_000238.4(KCNH2):c.2222A>G (p.Lys741Arg) rs538224282 0.00001
NM_000238.4(KCNH2):c.2236G>T (p.Ala746Ser) rs751681463 0.00001
NM_000238.4(KCNH2):c.2380G>A (p.Val794Ile) rs565006344 0.00001
NM_000238.4(KCNH2):c.2398+153A>G rs794728345 0.00001
NM_000238.4(KCNH2):c.2398+25G>T rs761167679 0.00001
NM_000238.4(KCNH2):c.2398+98G>A rs545247794 0.00001
NM_000238.4(KCNH2):c.2458G>A (p.Gly820Arg) rs199473001 0.00001
NM_000238.4(KCNH2):c.2530A>G (p.Met844Val) rs754565340 0.00001
NM_000238.4(KCNH2):c.2588G>A (p.Arg863Gln) rs939435672 0.00001
NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) rs763031434 0.00001
NM_000238.4(KCNH2):c.2680C>T (p.Arg894Cys) rs199473433 0.00001
NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) rs775317201 0.00001
NM_000238.4(KCNH2):c.2734C>T (p.Arg912Trp) rs577847157 0.00001
NM_000238.4(KCNH2):c.2788A>C (p.Ser930Arg) rs794728400 0.00001
NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys) rs121912514 0.00001
NM_000238.4(KCNH2):c.2854C>T (p.Pro952Ser) rs753735368 0.00001
NM_000238.4(KCNH2):c.3343A>G (p.Met1115Val) rs199473546 0.00001
NM_000238.4(KCNH2):c.3403C>T (p.Arg1135Cys) rs781369850 0.00001
NM_000238.4(KCNH2):c.3448C>A (p.Leu1150Met) rs754883792 0.00001
NM_000238.4(KCNH2):c.38C>A (p.Thr13Asn) rs758978727 0.00001
NM_000238.4(KCNH2):c.455C>G (p.Thr152Ser) rs794728354 0.00001
NM_000238.4(KCNH2):c.563C>T (p.Ala188Val) rs794728356 0.00001
NM_000238.4(KCNH2):c.578C>T (p.Ala193Val) rs908821172 0.00001
NM_000238.4(KCNH2):c.719C>T (p.Pro240Leu) rs794728359 0.00001
NM_000238.4(KCNH2):c.769A>C (p.Asn257His) rs199472875 0.00001
NM_000238.4(KCNH2):c.775G>A (p.Asp259Asn) rs199472876 0.00001
NM_000238.4(KCNH2):c.961G>T (p.Asp321Tyr) rs886062089 0.00001
NM_000238.4(KCNH2):c.1043T>A (p.Phe348Tyr) rs794728363
NM_000238.4(KCNH2):c.1097G>A (p.Arg366Gln) rs1372751640
NM_000238.4(KCNH2):c.1226T>A (p.Val409Glu) rs794728367
NM_000238.4(KCNH2):c.137A>G (p.Asp46Gly) rs2117063507
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.4(KCNH2):c.1519C>T (p.Pro507Ser) rs794728371
NM_000238.4(KCNH2):c.1520C>T (p.Pro507Leu) rs794728372
NM_000238.4(KCNH2):c.1603G>A (p.Val535Met) rs375872367
NM_000238.4(KCNH2):c.1622G>A (p.Arg541His) rs1297393452
NM_000238.4(KCNH2):c.1652T>C (p.Phe551Ser) rs1057524535
NM_000238.4(KCNH2):c.1733A>C (p.His578Pro) rs794728376
NM_000238.4(KCNH2):c.1736T>G (p.Met579Arg)
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.4(KCNH2):c.1819A>T (p.Ile607Phe) rs1064793146
NM_000238.4(KCNH2):c.1892C>T (p.Ser631Phe) rs1554425720
NM_000238.4(KCNH2):c.1907C>T (p.Ser636Leu) rs2116959215
NM_000238.4(KCNH2):c.1935G>A (p.Met645Ile) rs199472973
NM_000238.4(KCNH2):c.1943G>A (p.Gly648Asp) rs794728486
NM_000238.4(KCNH2):c.1954_1956delinsCAC (p.Tyr652His) rs794728490
NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000238.4(KCNH2):c.2168G>A (p.Cys723Tyr) rs794728491
NM_000238.4(KCNH2):c.2171T>C (p.Leu724Pro) rs1554425307
NM_000238.4(KCNH2):c.2204C>T (p.Ser735Leu) rs199472988
NM_000238.4(KCNH2):c.2261T>G (p.Leu754Arg) rs794728492
NM_000238.4(KCNH2):c.2296G>T (p.Gly766Trp) rs1057524377
NM_000238.4(KCNH2):c.2326C>G (p.Leu776Val)
NM_000238.4(KCNH2):c.2351G>A (p.Arg784Gln)
NM_000238.4(KCNH2):c.2351_2352inv (p.Arg784Pro)
NM_000238.4(KCNH2):c.235G>C (p.Ala79Pro) rs794728494
NM_000238.4(KCNH2):c.238G>A (p.Ala80Thr) rs199473037
NM_000238.4(KCNH2):c.2396T>C (p.Leu799Pro) rs794728390
NM_000238.4(KCNH2):c.2398+57G>T rs779355544
NM_000238.4(KCNH2):c.2398+58C>A rs774109163
NM_000238.4(KCNH2):c.244_252dup (p.Gln84_Ala85insIleAlaGln) rs794728476
NM_000238.4(KCNH2):c.2524C>G (p.Leu842Val) rs2116940520
NM_000238.4(KCNH2):c.253G>C (p.Ala85Pro) rs199472850
NM_000238.4(KCNH2):c.2576C>T (p.Thr859Ile) rs794728396
NM_000238.4(KCNH2):c.257T>C (p.Leu86Pro) rs199472851
NM_000238.4(KCNH2):c.2620A>C (p.Ser874Arg)
NM_000238.4(KCNH2):c.2634G>T (p.Glu878Asp) rs1463041004
NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp) rs201765446
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.4(KCNH2):c.2668_2670delinsCGCAAG (p.Ser890delinsArgLys)
NM_000238.4(KCNH2):c.2675G>T (p.Arg892Leu) rs774216337
NM_000238.4(KCNH2):c.2690A>T (p.Lys897Met) rs1805123
NM_000238.4(KCNH2):c.2698_2748dup (p.Glu900_Gly916dup) rs1800972122
NM_000238.4(KCNH2):c.2719G>A (p.Ala907Thr) rs752686806
NM_000238.4(KCNH2):c.2737G>A (p.Ala913Thr) rs2116933927
NM_000238.4(KCNH2):c.273G>T (p.Glu91Asp) rs1433772415
NM_000238.4(KCNH2):c.2758C>G (p.Arg920Gly) rs199473438
NM_000238.4(KCNH2):c.275G>T (p.Arg92Leu) rs794728413
NM_000238.4(KCNH2):c.2770G>A (p.Gly924Arg) rs794728397
NM_000238.4(KCNH2):c.2774G>C (p.Gly925Ala) rs794728398
NM_000238.4(KCNH2):c.2774G>T (p.Gly925Val) rs794728398
NM_000238.4(KCNH2):c.2781G>T (p.Trp927Cys) rs866768546
NM_000238.4(KCNH2):c.284A>C (p.Glu95Ala) rs794728414
NM_000238.4(KCNH2):c.290C>G (p.Ala97Gly) rs794728415
NM_000238.4(KCNH2):c.2926G>A (p.Asp976Asn) rs1800958394
NM_000238.4(KCNH2):c.3041G>A (p.Arg1014Gln) rs932335536
NM_000238.4(KCNH2):c.3119G>A (p.Ser1040Asn) rs794728404
NM_000238.4(KCNH2):c.3305C>T (p.Thr1102Ile) rs794728405
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs) rs1800857447
NM_000238.4(KCNH2):c.3368G>C (p.Gly1123Ala)
NM_000238.4(KCNH2):c.3403_3406dup (p.Leu1136fs) rs2116917575
NM_000238.4(KCNH2):c.345GAA[1] (p.Lys116del) rs864622157
NM_000238.4(KCNH2):c.3460G>A (p.Gly1154Ser) rs199473548
NM_000238.4(KCNH2):c.3470dup (p.Ser1159fs) rs794728474
NM_000238.4(KCNH2):c.44T>A (p.Leu15Gln) rs794728418
NM_000238.4(KCNH2):c.44T>G (p.Leu15Arg) rs794728418
NM_000238.4(KCNH2):c.46G>C (p.Asp16His)
NM_000238.4(KCNH2):c.487T>C (p.Phe163Leu)
NM_000238.4(KCNH2):c.515C>T (p.Ala172Val) rs794728355
NM_000238.4(KCNH2):c.551GCGCGGGCG[3] (p.Gly189_Ala190insGlyAlaGly) rs551056698
NM_000238.4(KCNH2):c.567_575dup (p.Ala193_Val194insProGlyAla) rs1370496092
NM_000238.4(KCNH2):c.58C>G (p.Arg20Gly) rs199473486
NM_000238.4(KCNH2):c.602C>T (p.Thr201Met) rs794728357
NM_000238.4(KCNH2):c.617_618delinsTT (p.Ser206Ile) rs1060500660
NM_000238.4(KCNH2):c.670G>A (p.Gly224Arg) rs794728358
NM_000238.4(KCNH2):c.687G>T (p.Glu229Asp)
NM_000238.4(KCNH2):c.692G>T (p.Arg231Leu)
NM_000238.4(KCNH2):c.758C>G (p.Ala253Gly) rs794728479
NM_000238.4(KCNH2):c.812G>A (p.Arg271His) rs794728361
NM_000238.4(KCNH2):c.813_818dup (p.Arg273_Glu274insSerArg)
NM_000238.4(KCNH2):c.868G>C (p.Ala290Pro) rs532891158
NM_000238.4(KCNH2):c.877G>T (p.Ala293Ser) rs794728362
NM_000238.4(KCNH2):c.947T>G (p.Leu316Arg)
NM_000238.4(KCNH2):c.959C>G (p.Ser320Trp) rs199472886
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872

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