ClinVar Miner

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

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Total variants: 2
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NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met)

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