ClinVar Miner

List of variants in gene SCN8A reported as pathogenic by GeneDx

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Total variants: 17
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HGVS dbSNP
NM_014191.4(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_014191.4(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014191.4(SCN8A):c.2890G>C (p.Gly964Arg) rs1057521662
NM_014191.4(SCN8A):c.2930T>C (p.Leu977Pro) rs1555226079
NM_014191.4(SCN8A):c.3955G>T (p.Ala1319Ser) rs796053214
NM_014191.4(SCN8A):c.4419+1A>G rs1064793722
NM_014191.4(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_014191.4(SCN8A):c.4438T>A (p.Phe1480Ile) rs796053218
NM_014191.4(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_014191.4(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_014191.4(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_014191.4(SCN8A):c.4949C>T (p.Ala1650Val) rs796053224
NM_014191.4(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_014191.4(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_014191.4(SCN8A):c.5615G>T (p.Arg1872Leu) rs796053229
NM_014191.4(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_014191.4(SCN8A):c.718A>C (p.Ile240Leu) rs1064793923

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