ClinVar Miner

List of variants reported as pathogenic for Seizures, benign familial infantile, 5 by Center of Excellence for Medical Genomics, Chulalongkorn University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)	rs2138711868
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val)	rs796053220
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)	rs796053228

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