List of variants reported as pathogenic for Severe myoclonic epilepsy in infancy by Lifecell International Pvt. Ltd

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter)	rs794726736
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)	rs794726778
NM_001165963.4(SCN1A):c.2589+3A>T	rs794726775
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)	rs794726697
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)	rs121917918
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)	rs398123593
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)	rs794726726
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser)	rs121917937

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