ClinVar Miner

List of variants in gene SCN1A studied for Autosomal dominant epilepsy

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Total variants: 6
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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.1259del (p.Ala420fs) rs2105862149
NM_001165963.4(SCN1A):c.1273del (p.Ala425fs) rs1553546836
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.900T>A (p.Tyr300Ter)

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