ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by Blueprint Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter) rs374555589

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