ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by OMIM

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Total variants: 11
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HGVS dbSNP
NM_006920.6(SCN1A):c.2551C>G (p.Arg851Gly) rs397514459
NM_006920.6(SCN1A):c.2923C>T (p.Leu975Phe) rs121918625
NM_006920.6(SCN1A):c.4798G>T (p.Val1600Phe) rs121918630
NM_006920.6(SCN1A):c.4973C>A (p.Ala1658Glu) rs397514458
NM_006920.6(SCN1A):c.5093C>T (p.Thr1698Ile) rs121918629
NM_006920.6(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
SCN1A, 1-BP DEL, 2528G
SCN1A, 1-BP DEL, 3608A
SCN1A, 2-BP DEL, 657AG
SCN1A, 6.5-KB DEL
SCN1A, EX21-26DEL

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