ClinVar Miner

List of variants in gene SCN1A reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.126del (p.Asp43fs) rs1553560831
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.900T>A (p.Tyr300Ter)

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