ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by Baylor Miraca Genetics Laboratories,

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Total variants: 4
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NM_006920.6(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_006920.6(SCN1A):c.3479C>T (p.Pro1160Leu) rs1559152754
NM_006920.6(SCN1A):c.4514C>A (p.Ser1505Ter) rs139300715
NM_006920.6(SCN1A):c.5318T>C (p.Val1773Ala) rs1057518671

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