ClinVar Miner

List of variants reported as pathogenic for Seizures, benign familial infantile, 3 by Neurology Department, Shenzhen Children's Hospital

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser) rs1553579282
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val) rs2105319172

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