List of variants in gene SCN8A reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.1118A>G (p.Glu373Gly)	rs1555219158
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser)	rs879255700
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)	rs796053216
NM_001330260.2(SCN8A):c.4683_4686del (p.Phe1561fs)
NM_001330260.2(SCN8A):c.4862T>G (p.Leu1621Trp)	rs879255707
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455
NM_001330260.2(SCN8A):c.752T>G (p.Leu251Arg)	rs1941649906
NM_001330260.2(SCN8A):c.832C>T (p.Arg278Ter)	rs1555218657

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