List of variants in gene SCN8A reported as pathogenic by Mendelics

Minimum submission review status:		Collection method:
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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.1094G>A (p.Arg365His)	rs1592390511
NM_001330260.2(SCN8A):c.1150G>A (p.Gly384Arg)	rs2138748007
NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala)	rs2138748239
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)	rs797045013
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)	rs1057524820
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly)	rs863225295
NM_001330260.2(SCN8A):c.2693del (p.Gly898fs)	rs2138862836
NM_001330260.2(SCN8A):c.4876C>T (p.Arg1626Cys)	rs2138942373
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)	rs796053228

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