ClinVar Miner

List of variants reported as pathogenic for Severe myoclonic epilepsy in infancy by Invitae

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Total variants: 5
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NM_001330723.2(SNX27):c.1218C>G (p.Tyr406Ter) rs201966711
NM_001330723.2(SNX27):c.1356dup (p.Leu453fs) rs1553266166
NM_001330723.2(SNX27):c.265dup (p.Ala89fs) rs781657502
NM_001330723.2(SNX27):c.629_630del (p.Glu210fs)
NM_001330723.2(SNX27):c.873del (p.Lys293fs)

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