ClinVar Miner

List of variants in gene KCNH2 reported as uncertain significance by Ambry Genetics

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Total variants: 46
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HGVS dbSNP
NM_172056.2(KCNH2):c.1067G>A (p.Arg356His) rs730880118
NM_172056.2(KCNH2):c.1189C>T (p.Arg397Cys) rs1060500663
NM_172056.2(KCNH2):c.1226T>A (p.Val409Glu) rs794728367
NM_172056.2(KCNH2):c.1291T>C (p.Phe431Leu) rs1554426244
NM_172056.2(KCNH2):c.1471G>A (p.Val491Ile) rs374376640
NM_172056.2(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_172056.2(KCNH2):c.1603G>A (p.Val535Met) rs375872367
NM_172056.2(KCNH2):c.1693G>T (p.Ala565Ser) rs199473518
NM_172056.2(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_172056.2(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_172056.2(KCNH2):c.2144C>T (p.Ala715Val) rs780656919
NM_172056.2(KCNH2):c.2145+3G>A rs1378166842
NM_172056.2(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_172056.2(KCNH2):c.2296G>A (p.Gly766Arg) rs1057524377
NM_172056.2(KCNH2):c.2343C>G (p.Phe781Leu) rs886039215
NM_172056.2(KCNH2):c.2366T>C (p.Ile789Thr) rs794728388
NM_172056.2(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_172056.2(KCNH2):c.2387T>G (p.Val796Gly) rs1554425163
NM_172056.2(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_172056.2(KCNH2):c.374T>G (p.Phe125Cys) rs199473499
NM_172056.2(KCNH2):c.473-5C>T rs1181633993
NM_172056.2(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_172056.2(KCNH2):c.607G>A (p.Ala203Thr) rs199472868
NM_172056.2(KCNH2):c.695G>T (p.Arg232Leu) rs886039160
NM_172056.2(KCNH2):c.865G>A (p.Glu289Lys) rs199472880
NM_172056.2(KCNH2):c.916+3G>A rs1554427591
NM_172056.2(KCNH2):c.980A>G (p.Tyr327Cys) rs886039013
NM_172056.2(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_172057.2(KCNH2):c.1505T>C (p.Leu502Pro) rs1554424818
NM_172057.2(KCNH2):c.1596C>A (p.Pro532=) rs374296728
NM_172057.2(KCNH2):c.1654C>T (p.Arg552Cys) rs201627778
NM_172057.2(KCNH2):c.1676C>G (p.Thr559Arg) rs1480554629
NM_172057.2(KCNH2):c.1687G>A (p.Gly563Arg) rs199473669
NM_172057.2(KCNH2):c.1709C>T (p.Pro570Leu) rs199473436
NM_172057.2(KCNH2):c.1718C>T (p.Ala573Val) rs77331749
NM_172057.2(KCNH2):c.1739G>A (p.Arg580Gln) rs199473670
NM_172057.2(KCNH2):c.1750G>T (p.Gly584Trp) rs794728397
NM_172057.2(KCNH2):c.1751G>A (p.Gly584Glu) rs199473009
NM_172057.2(KCNH2):c.1751G>C (p.Gly584Ala) rs199473009
NM_172057.2(KCNH2):c.1840C>T (p.Arg614Cys) rs141401803
NM_172057.2(KCNH2):c.1921A>G (p.Ser641Gly) rs76649554
NM_172057.2(KCNH2):c.2144G>A (p.Arg715Gln) rs41307270
NM_172057.2(KCNH2):c.2183A>G (p.Gln728Arg) rs151031345
NM_172057.2(KCNH2):c.2231C>T (p.Pro744Leu) rs762510312
NM_172057.2(KCNH2):c.2269G>A (p.Val757Ile) rs199473030
NM_172057.2(KCNH2):c.2416A>T (p.Thr806Ser) rs778879572

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