ClinVar Miner

List of variants in gene SNX27 reported as pathogenic for Severe myoclonic epilepsy in infancy

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Total variants: 2
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NM_030918.5(SNX27):c.1218C>G (p.Tyr406Ter) rs201966711
NM_030918.5(SNX27):c.1356dup (p.Leu453Thrfs) rs1553266166

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