ClinVar Miner

List of variants in gene SCN1A reported as pathogenic by Ambry Genetics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1027G>C (p.Gly343Arg)
NM_001165963.4(SCN1A):c.1118T>A (p.Leu373Ter) rs1553547448
NM_001165963.4(SCN1A):c.1134_1147dup (p.Phe383Ter) rs1698001843
NM_001165963.4(SCN1A):c.1200_1202del (p.Met400del)
NM_001165963.4(SCN1A):c.1273del (p.Ala425fs) rs1553546836
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2580_2584del (p.Phe861fs)
NM_001165963.4(SCN1A):c.2872dup (p.Asp958fs)
NM_001165963.4(SCN1A):c.383+1A>G rs794726803
NM_001165963.4(SCN1A):c.474-2A>G
NM_001165963.4(SCN1A):c.655dup (p.Arg219fs)
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.812del (p.Gly271fs) rs1553549717
NM_001165963.4(SCN1A):c.962C>G (p.Ser321Ter) rs2105888495
NM_001165963.4(SCN1A):c.965-1G>A rs794726824

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