ClinVar Miner

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

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Total variants: 77
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HGVS dbSNP
NM_172056.2(KCNH2):c.1048del (p.Ala350fs) rs1064793523
NM_172056.2(KCNH2):c.1132dup (p.Leu378fs) rs794728432
NM_172056.2(KCNH2):c.119C>T (p.Ala40Val) rs794728407
NM_172056.2(KCNH2):c.121G>C (p.Val41Leu) rs199472835
NM_172056.2(KCNH2):c.1262C>T (p.Thr421Met) rs199472894
NM_172056.2(KCNH2):c.1282T>C (p.Ser428Pro) rs794728368
NM_172056.2(KCNH2):c.1293C>A (p.Phe431Leu) rs199472900
NM_172056.2(KCNH2):c.1348C>T (p.Gln450Ter) rs1563160541
NM_172056.2(KCNH2):c.136G>A (p.Asp46Asn) rs794728408
NM_172056.2(KCNH2):c.1415G>C (p.Arg472Pro) rs794728369
NM_172056.2(KCNH2):c.1478A>G (p.Tyr493Cys) rs199472911
NM_172056.2(KCNH2):c.1600C>A (p.Arg534Ser) rs199472916
NM_172056.2(KCNH2):c.1610G>A (p.Arg537Gln) rs794728373
NM_172056.2(KCNH2):c.162C>A (p.Tyr54Ter) rs1554430962
NM_172056.2(KCNH2):c.164C>A (p.Ser55Ter) rs199472844
NM_172056.2(KCNH2):c.1664G>A (p.Cys555Tyr) rs1057517866
NM_172056.2(KCNH2):c.1686C>G (p.His562Gln) rs1057520477
NM_172056.2(KCNH2):c.1689G>C (p.Trp563Cys) rs199473517
NM_172056.2(KCNH2):c.1693G>C (p.Ala565Pro) rs199473518
NM_172056.2(KCNH2):c.1701del (p.Trp568fs) rs794728440
NM_172056.2(KCNH2):c.170C>T (p.Ala57Val) rs794728493
NM_172056.2(KCNH2):c.1715G>C (p.Gly572Ala) rs199473423
NM_172056.2(KCNH2):c.1754G>T (p.Trp585Leu) rs794728484
NM_172056.2(KCNH2):c.1790A>G (p.Tyr597Cys) rs199472934
NM_172056.2(KCNH2):c.1802G>A (p.Gly601Asp) rs794728480
NM_172056.2(KCNH2):c.1811G>T (p.Gly604Val) rs199472937
NM_172056.2(KCNH2):c.1819A>T (p.Ile607Phe) rs1064793146
NM_172056.2(KCNH2):c.1851C>A (p.Phe617Leu) rs1057524595
NM_172056.2(KCNH2):c.188C>A (p.Pro63His) rs766379103
NM_172056.2(KCNH2):c.1910_1912AGA[1] (p.Lys638del) rs794728442
NM_172056.2(KCNH2):c.1945+1G>A rs794728487
NM_172056.2(KCNH2):c.1970G>T (p.Gly657Val) rs1085307943
NM_172056.2(KCNH2):c.1973A>G (p.Asn658Ser) rs1057523338
NM_172056.2(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_172056.2(KCNH2):c.202T>C (p.Phe68Leu) rs199473417
NM_172056.2(KCNH2):c.2081G>A (p.Arg694His) rs794728383
NM_172056.2(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_172056.2(KCNH2):c.2127_2128del (p.Asn709fs) rs1064796584
NM_172056.2(KCNH2):c.2192A>C (p.His731Pro) rs794728385
NM_172056.2(KCNH2):c.2204C>T (p.Ser735Leu) rs199472988
NM_172056.2(KCNH2):c.221C>T (p.Thr74Met) rs199473422
NM_172056.2(KCNH2):c.2263G>A (p.Ala755Thr) rs794728386
NM_172056.2(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_172056.2(KCNH2):c.2326C>T (p.Leu776Phe) rs771674303
NM_172056.2(KCNH2):c.2360T>A (p.Ile787Asn) rs794728387
NM_172056.2(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_172056.2(KCNH2):c.2396T>C (p.Leu799Pro) rs794728390
NM_172056.2(KCNH2):c.275G>T (p.Arg92Leu) rs794728413
NM_172056.2(KCNH2):c.301A>G (p.Lys101Glu) rs199472856
NM_172056.2(KCNH2):c.308-2A>G rs1057520598
NM_172056.2(KCNH2):c.331_337dup (p.Val113fs) rs1554428238
NM_172056.2(KCNH2):c.379C>T (p.Leu127Phe) rs794728352
NM_172056.2(KCNH2):c.544_551dup (p.Ala185fs) rs1554427931
NM_172056.2(KCNH2):c.565_568del (p.Gly189fs) rs794728420
NM_172056.2(KCNH2):c.77-1G>A rs794728406
NM_172056.2(KCNH2):c.80G>A (p.Arg27His) rs199472828
NM_172056.2(KCNH2):c.916G>T (p.Gly306Trp) rs199472884
NM_172056.2(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_172057.2(KCNH2):c.1395del (p.Phe465fs) rs1064793368
NM_172057.2(KCNH2):c.1444G>C (p.Val482Leu) rs121912506
NM_172057.2(KCNH2):c.1448G>A (p.Arg483Gln) rs1064793147
NM_172057.2(KCNH2):c.1484G>A (p.Arg495Gln) rs794728395
NM_172057.2(KCNH2):c.1516C>T (p.Pro506Ser) rs199473006
NM_172057.2(KCNH2):c.1640G>A (p.Arg547His) rs199473432
NM_172057.2(KCNH2):c.1672+5G>T rs1057522921
NM_172057.2(KCNH2):c.1704_1708dup (p.Pro570fs) rs794728449
NM_172057.2(KCNH2):c.1840C>T (p.Arg614Cys) rs141401803
NM_172057.2(KCNH2):c.1843C>G (p.Leu615Val) rs199473012
NM_172057.2(KCNH2):c.1867_1868delinsA (p.Pro623fs) rs1064795287
NM_172057.2(KCNH2):c.1987G>T (p.Asp663Tyr) rs794728402
NM_172057.2(KCNH2):c.2040dup (p.Ser681fs) rs864622174
NM_172057.2(KCNH2):c.2079_2089del (p.Pro694fs) rs794728466
NM_172057.2(KCNH2):c.2086_2087dup (p.Asp697fs) rs794728469
NM_172057.2(KCNH2):c.2086_2092dup (p.Val698fs) rs1554424042
NM_172057.2(KCNH2):c.2235del (p.Pro746fs) rs1064795855
NM_172057.2(KCNH2):c.23C>T (p.Ala8Val) rs972201049
NM_172057.2(KCNH2):c.33_34del (p.Ala13fs) rs1064794494

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