ClinVar Miner

List of variants reported as pathogenic for Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B by Molecular Genetics Lab, CHRU Brest

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)

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