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 gnomAD frequency
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025 0.00098
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.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000238.4(KCNH2):c.473-7C>T rs146570628 0.00013
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918 0.00006
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His) rs730880118 0.00003
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000238.4(KCNH2):c.755G>A (p.Arg252Gln) rs730880117 0.00002
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu) rs199472902 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000238.4(KCNH2):c.2236G>T (p.Ala746Ser) rs751681463 0.00001
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441 0.00001
NM_000238.4(KCNH2):c.2734C>T (p.Arg912Trp) rs577847157 0.00001
NM_000238.4(KCNH2):c.1402dup (p.Leu468fs) rs869025448
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_000238.4(KCNH2):c.2216A>G (p.His739Arg) rs869025446
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_000238.4(KCNH2):c.2692+8G>A rs200032281
NM_000238.4(KCNH2):c.3350G>A (p.Cys1117Tyr) rs730880119
NM_000238.4(KCNH2):c.448C>T (p.Pro150Ser) rs869025445
NM_000238.4(KCNH2):c.453del (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.473-7C>G rs146570628
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) rs730880116
NM_000238.4(KCNH2):c.77-5C>T rs72549419
NM_000238.4(KCNH2):c.774dup (p.Asp259fs) rs869025447
NM_000238.4(KCNH2):c.842dup (p.Ala282fs) rs730880374
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) rs199472884

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