ClinVar Miner

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

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Total variants: 5
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NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
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
NM_006920.6(SCN1A):c.2556+3A>T rs794726775

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