ClinVar Miner

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: 5
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NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro)
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) rs794726697
NM_001165963.4(SCN1A):c.429_430del (p.Phe144fs)
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759

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