ClinVar Miner

List of variants reported as pathogenic for Epilepsy of infancy with migrating focal seizures by Neurology Department, Shenzhen Children's Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.4901G>T (p.Gly1634Val) rs1553463427

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