List of variants reported as pathogenic for Severe myoclonic epilepsy in infancy by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1142A>G (p.Gln381Arg)
NM_001165963.4(SCN1A):c.1178delinsTTAC (p.Arg393delinsLeuThr)
NM_001165963.4(SCN1A):c.1353_1354dup (p.Lys452fs)
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)	rs794726730
NM_001165963.4(SCN1A):c.4462del (p.Gln1488fs)	rs1553522321
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)	rs794726825
NM_001165963.4(SCN1A):c.5170G>C (p.Ala1724Pro)
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	rs121917984

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