ClinVar Miner

List of variants in gene KCNH2 reported by Blueprint Genetics,

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Total variants: 32
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HGVS dbSNP
NM_000238.3(KCNH2):c.1067G>A (p.Arg356His) rs730880118
NM_000238.3(KCNH2):c.1352C>T (p.Pro451Leu) rs199472902
NM_000238.3(KCNH2):c.1402dupC (p.Leu468Profs) rs869025448
NM_000238.3(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.3(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.3(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.3(KCNH2):c.1888G>A (p.Val630Ile) rs199472958
NM_000238.3(KCNH2):c.2216A>G (p.His739Arg) rs869025446
NM_000238.3(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.3(KCNH2):c.2236G>T (p.Ala746Ser) rs751681463
NM_000238.3(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_000238.3(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441
NM_000238.3(KCNH2):c.2692+8G>A rs200032281
NM_000238.3(KCNH2):c.2734C>T (p.Arg912Trp) rs577847157
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025
NM_000238.3(KCNH2):c.3350G>A (p.Cys1117Tyr) rs730880119
NM_000238.3(KCNH2):c.448C>T (p.Pro150Ser) rs869025445
NM_000238.3(KCNH2):c.453delC (p.Thr152Profs) rs761863251
NM_000238.3(KCNH2):c.473-7C>G rs146570628
NM_000238.3(KCNH2):c.473-7C>T rs146570628
NM_000238.3(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000238.3(KCNH2):c.685G>T (p.Glu229Ter) rs730880116
NM_000238.3(KCNH2):c.755G>A (p.Arg252Gln) rs730880117
NM_000238.3(KCNH2):c.77-5C>T rs72549419
NM_000238.3(KCNH2):c.774dupC (p.Asp259Argfs) rs869025447
NM_000238.3(KCNH2):c.842dupG (p.Ala282Argfs) rs730880374
NM_000238.3(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000238.3(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_172056.2(KCNH2):c.1874T>C (p.Val625Ala) rs199472951

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