List of variants reported as pathogenic for Severe myoclonic epilepsy in infancy by Pediatric Department, Xiangya Hospital, Central South University

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.2618G>A (p.Trp873Ter)	rs2105808640
NM_001165963.4(SCN1A):c.3182del (p.Cys1061fs)
NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)	rs121917935
NM_001165963.4(SCN1A):c.939del (p.Trp314fs)

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