List of variants reported as pathogenic for Severe myoclonic epilepsy in infancy by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter)	rs1697997770
NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs)	rs1689680658
NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs)	rs1689309551
NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter)	rs1574281711
NM_001165963.4(SCN1A):c.591del (p.Ile198fs)	rs1698941202
NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs)	rs1698732089

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