ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

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Total variants: 8
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NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter) rs794726778
NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe) rs794726809
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)

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