List of variants in gene SCN11A reported as uncertain significance for Charcot-Marie-Tooth disease

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

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn)	rs150269814	0.00036
NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu)	rs201107889	0.00034
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr)	rs141228634	0.00011
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg)	rs145734191	0.00009
NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro)	rs1373209779	0.00001
NM_001349253.2(SCN11A):c.2042C>A (p.Ala681Asp)	rs146174311
NM_001349253.2(SCN11A):c.4057-1G>A	rs1575205608
NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg)	rs1553630322

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.