ClinVar Miner

List of variants reported as uncertain significance for Severe myoclonic epilepsy in infancy by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly)	rs1691097432
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu)	rs1573984236

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