ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter) rs794726778
NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe) rs794726809
NM_006920.6(SCN1A):c.602+1G>A

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