ClinVar Miner

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

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Total variants: 79
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HGVS dbSNP
NM_172056.2(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_172056.2(KCNH2):c.1043T>A (p.Phe348Tyr) rs794728363
NM_172056.2(KCNH2):c.1226T>A (p.Val409Glu) rs794728367
NM_172056.2(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924
NM_172056.2(KCNH2):c.1519C>T (p.Pro507Ser) rs794728371
NM_172056.2(KCNH2):c.1520C>T (p.Pro507Leu) rs794728372
NM_172056.2(KCNH2):c.1652T>C (p.Phe551Ser) rs1057524535
NM_172056.2(KCNH2):c.1733A>C (p.His578Pro) rs794728376
NM_172056.2(KCNH2):c.1847_1855del (p.Tyr616_Thr618del) rs1554425762
NM_172056.2(KCNH2):c.1935G>A (p.Met645Ile) rs199472973
NM_172056.2(KCNH2):c.1954_1956delinsCAC (p.Tyr652His) rs794728490
NM_172056.2(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_172056.2(KCNH2):c.2168G>A (p.Cys723Tyr) rs794728491
NM_172056.2(KCNH2):c.2200C>T (p.Arg734Cys) rs143072395
NM_172056.2(KCNH2):c.2261T>G (p.Leu754Arg) rs794728492
NM_172056.2(KCNH2):c.2296G>T (p.Gly766Trp) rs1057524377
NM_172056.2(KCNH2):c.235G>C (p.Ala79Pro) rs794728494
NM_172056.2(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_172056.2(KCNH2):c.2380G>A (p.Val794Ile) rs565006344
NM_172056.2(KCNH2):c.2455G>T (p.Ala819Ser) rs779355544
NM_172056.2(KCNH2):c.2456C>A (p.Ala819Glu) rs774109163
NM_172056.2(KCNH2):c.2551A>G (p.Ser851Gly) rs794728345
NM_172056.2(KCNH2):c.2554G>A (p.Gly852Arg) rs139247073
NM_172056.2(KCNH2):c.26C>T (p.Ala9Val) rs775317201
NM_172056.2(KCNH2):c.274C>T (p.Arg92Cys) rs563611707
NM_172056.2(KCNH2):c.284A>C (p.Glu95Ala) rs794728414
NM_172056.2(KCNH2):c.290C>G (p.Ala97Gly) rs794728415
NM_172056.2(KCNH2):c.345_347GAA[1] (p.Lys116del) rs864622157
NM_172056.2(KCNH2):c.398T>C (p.Met133Thr) rs794728353
NM_172056.2(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_172056.2(KCNH2):c.440A>G (p.His147Arg) rs768938134
NM_172056.2(KCNH2):c.44T>A (p.Leu15Gln) rs794728418
NM_172056.2(KCNH2):c.455C>G (p.Thr152Ser) rs794728354
NM_172056.2(KCNH2):c.515C>T (p.Ala172Val) rs794728355
NM_172056.2(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_172056.2(KCNH2):c.551_559GCGCGGGCG[3] (p.184_186GAG[3]) rs551056698
NM_172056.2(KCNH2):c.563C>T (p.Ala188Val) rs794728356
NM_172056.2(KCNH2):c.602C>T (p.Thr201Met) rs794728357
NM_172056.2(KCNH2):c.617_618delinsTT (p.Ser206Ile) rs1060500660
NM_172056.2(KCNH2):c.670G>A (p.Gly224Arg) rs794728358
NM_172056.2(KCNH2):c.707G>T (p.Gly236Val) rs199472870
NM_172056.2(KCNH2):c.719C>T (p.Pro240Leu) rs794728359
NM_172056.2(KCNH2):c.758C>G (p.Ala253Gly) rs794728479
NM_172056.2(KCNH2):c.775G>A (p.Asp259Asn) rs199472876
NM_172056.2(KCNH2):c.812G>A (p.Arg271His) rs794728361
NM_172056.2(KCNH2):c.868G>C (p.Ala290Pro) rs532891158
NM_172056.2(KCNH2):c.877G>T (p.Ala293Ser) rs794728362
NM_172056.2(KCNH2):c.959C>G (p.Ser320Trp) rs199472886
NM_172056.2(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_172056.2(KCNH2):c.983G>A (p.Arg328His) rs747437736
NM_172057.2(KCNH2):c.1556C>T (p.Thr519Ile) rs794728396
NM_172057.2(KCNH2):c.1586C>T (p.Pro529Leu) rs763031434
NM_172057.2(KCNH2):c.1645T>G (p.Leu549Val) rs765427343
NM_172057.2(KCNH2):c.1660C>T (p.Arg554Cys) rs199473433
NM_172057.2(KCNH2):c.1670A>T (p.Lys557Met) rs1805123
NM_172057.2(KCNH2):c.1687G>A (p.Gly563Arg) rs199473669
NM_172057.2(KCNH2):c.1699G>A (p.Ala567Thr) rs752686806
NM_172057.2(KCNH2):c.1718C>T (p.Ala573Val) rs77331749
NM_172057.2(KCNH2):c.1738C>G (p.Arg580Gly) rs199473438
NM_172057.2(KCNH2):c.1750G>A (p.Gly584Arg) rs794728397
NM_172057.2(KCNH2):c.1754G>C (p.Gly585Ala) rs794728398
NM_172057.2(KCNH2):c.1754G>T (p.Gly585Val) rs794728398
NM_172057.2(KCNH2):c.1760G>T (p.Trp587Leu) rs794728399
NM_172057.2(KCNH2):c.1765dup (p.Glu589fs) rs794728458
NM_172057.2(KCNH2):c.1768A>C (p.Ser590Arg) rs794728400
NM_172057.2(KCNH2):c.1790G>A (p.Ser597Asn) rs199473540
NM_172057.2(KCNH2):c.1921A>G (p.Ser641Gly) rs76649554
NM_172057.2(KCNH2):c.1928C>T (p.Thr643Ile) rs149955375
NM_172057.2(KCNH2):c.1987G>A (p.Asp663Asn) rs794728402
NM_172057.2(KCNH2):c.2032C>G (p.Pro678Ala) rs41313764
NM_172057.2(KCNH2):c.2092G>A (p.Val698Met) rs199473544
NM_172057.2(KCNH2):c.2099G>A (p.Ser700Asn) rs794728404
NM_172057.2(KCNH2):c.2119C>T (p.Arg707Cys) rs377095107
NM_172057.2(KCNH2):c.2227A>G (p.Thr743Ala) rs751559990
NM_172057.2(KCNH2):c.2285C>T (p.Thr762Ile) rs794728405
NM_172057.2(KCNH2):c.2323A>G (p.Met775Val) rs199473546
NM_172057.2(KCNH2):c.2345C>T (p.Pro782Leu) rs531460655
NM_172057.2(KCNH2):c.2450C>T (p.Pro817Leu) rs143167166
NM_172057.2(KCNH2):c.2450dup (p.Ser819fs) rs794728474

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