ClinVar Miner

List of variants in gene KCNH2 reported as likely pathogenic by Blueprint Genetics,

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Total variants: 9
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HGVS dbSNP
NM_000238.3(KCNH2):c.1352C>T (p.Pro451Leu) rs199472902
NM_000238.3(KCNH2):c.1402dup (p.Leu468fs) rs869025448
NM_000238.3(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_000238.3(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_000238.3(KCNH2):c.1888G>A (p.Val630Ile) rs199472958
NM_000238.3(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.774dup (p.Asp259fs) rs869025447
NM_000238.3(KCNH2):c.842dup (p.Ala282fs) rs730880374

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