ClinVar Miner

List of variants in gene KCNH2 reported as likely pathogenic by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro) rs1801182500
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn) rs199472948
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs) rs1554427936
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter) rs1554431441

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