List of variants reported as pathogenic for Severe myoclonic epilepsy in infancy by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 2q24.3(chr2:166872248-167334216)
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro)	rs1698022280
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)	rs886039430
NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter)	rs1553543340
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)	rs794726697
NM_001165963.4(SCN1A):c.429_430del (p.Phe144fs)	rs1699147493
NM_001165963.4(SCN1A):c.474-1G>A	rs1698962501
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter)	rs794726759
NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)

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