List of variants in gene SETX reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys)	rs116333061	0.00653
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)	rs151117904	0.00431
NM_015046.7(SETX):c.472T>G (p.Leu158Val)	rs145438764	0.00347
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)	rs145097270	0.00105
NM_015046.7(SETX):c.192A>G (p.Leu64=)	rs117326462	0.00078
NM_015046.7(SETX):c.81C>T (p.Ser27=)	rs149229231	0.00076
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)	rs139063885	0.00036
NM_015046.7(SETX):c.390C>T (p.Asn130=)	rs138363625	0.00014
NM_015046.7(SETX):c.1221A>G (p.Thr407=)	rs377618570	0.00008
NM_015046.7(SETX):c.1227A>G (p.Leu409=)	rs769913556	0.00006
NM_015046.7(SETX):c.3210T>C (p.Leu1070=)	rs145014082	0.00006
NM_015046.7(SETX):c.1140T>G (p.Pro380=)	rs140553290	0.00004
NM_015046.7(SETX):c.5901A>G (p.Thr1967=)	rs780717865	0.00001

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.