List of variants in gene SCN8A reported as pathogenic for electroclinical syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2901+2T>C	rs2138863154
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys)	rs1942879102
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)	rs2138711868
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys)	rs879255652
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val)	rs796053220
NM_001330260.2(SCN8A):c.4774G>T (p.Val1592Leu)
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)	rs796053228
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455

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