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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)	rs797045013
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
NM_001330260.2(SCN8A):c.4403A>G (p.Asn1468Ser)	rs1057518667
NM_001330260.2(SCN8A):c.4409A>G (p.Gln1470Arg)	rs1555228771
NM_001330260.2(SCN8A):c.5297T>G (p.Leu1766Arg)	rs1938713472
NM_001330260.2(SCN8A):c.676C>G (p.Arg226Gly)	rs1323578421
NM_001330260.2(SCN8A):c.718A>G (p.Ile240Val)	rs1064793923
NM_014191.4(SCN8A):c.647T>G (p.Val216Gly)	rs879255696
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly)	rs1592380687
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile)	rs1592380699

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