ClinVar Miner

List of variants in gene SCN8A reported as likely pathogenic by Baylor Miraca Genetics Laboratories,

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_014191.4(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_014191.4(SCN8A):c.4403A>G (p.Asn1468Ser) rs1057518667
NM_014191.4(SCN8A):c.647T>G (p.Val216Gly) rs879255696
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly)
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile)

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