ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs) rs1698004184
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) rs1684663181
NM_001165963.4(SCN1A):c.36del (p.Asp12fs) rs1684704927

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