List of variants reported as pathogenic for Severe myoclonic epilepsy in infancy by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter)	rs794726799
NM_001165963.4(SCN1A):c.1489del (p.Arg497fs)	rs1697667767
NM_001165963.4(SCN1A):c.2680dup (p.Thr894fs)	rs1696660743
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr)	rs1696624989
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)	rs61741123
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val)	rs2105476084
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly)	rs1573953030
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter)	rs1553520103
NM_001165963.4(SCN1A):c.602+1G>A

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