ClinVar Miner

List of variants in gene SCN8A reported as pathogenic by Ambry Genetics

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Total variants: 7
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HGVS dbSNP
NM_014191.4(SCN8A):c.2023_2029dup (p.Gly677fs) rs1565908565
NM_014191.4(SCN8A):c.2460dup (p.Asp821Ter) rs1565915356
NM_014191.4(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014191.4(SCN8A):c.2936C>T (p.Ser979Phe) rs1555226081
NM_014191.4(SCN8A):c.4189_4208del (p.Asp1397fs) rs1565925940
NM_014191.4(SCN8A):c.4859G>T (p.Arg1620Leu) rs869312966
NM_014191.4(SCN8A):c.4865C>A (p.Ala1622Asp) rs1555230924

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