List of variants reported as likely pathogenic for Severe myoclonic epilepsy in infancy by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)	rs1553547448
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)	rs796053001
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)	rs121918631
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)	rs1573947939

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