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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NC_000002.12:g.(?_165985812)_(166002754_166009718)del
NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly)	rs397514459
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe)	rs121918625
NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs)	rs1574061044
NM_001165963.4(SCN1A):c.4002+1195_4284+346delinsTATT
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)	rs121918630
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu)	rs397514458
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)	rs121918629
NM_001165963.4(SCN1A):c.657_658del (p.Arg219fs)	rs1574272192
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)	rs121918624

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