List of variants in gene SCN8A reported by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.3373-8G>A	rs1275858718	0.00004
NM_001330260.2(SCN8A):c.3163C>T (p.Arg1055Trp)	rs370141803	0.00003
NM_001330260.2(SCN8A):c.3152C>T (p.Ala1051Val)	rs376547086	0.00001
NM_001330260.2(SCN8A):c.3449A>C (p.Gln1150Pro)	rs1050488287	0.00001
NM_001330260.2(SCN8A):c.1984C>T (p.Arg662Cys)	rs76222829
NM_001330260.2(SCN8A):c.3967G>T (p.Ala1323Ser)	rs794727361
NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn)	rs1938178701
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)	rs796053228

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.