List of variants in gene SETX 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
NM_015046.5(SETX):c.[59G>A(;)3809C>T]
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)	rs534723946
NM_015046.7(SETX):c.193G>A (p.Glu65Lys)	rs1554825315
NM_015046.7(SETX):c.3075_3076insTGA (p.Arg1026Ter)	rs587781249
NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys)	rs267607044
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)	rs373375060
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)	rs534886444
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met)	rs148041889

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.