List of variants in gene LOC126860782, SETX studied for autosomal recessive disease

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015046.7(SETX):c.7287+207C>T	rs45490698	0.00451
NM_015046.7(SETX):c.7200-15T>C	rs754019832	0.00004
NM_015046.7(SETX):c.7287+9C>A	rs769170686	0.00002
NM_015046.7(SETX):c.7200-10dup	rs531485265
NM_015046.7(SETX):c.7200-11_7200-10del	rs531485265
NM_015046.7(SETX):c.7200-3T>C
NM_015046.7(SETX):c.7203C>T (p.Phe2401=)
NM_015046.7(SETX):c.7204C>G (p.Leu2402Val)	rs1402767850
NM_015046.7(SETX):c.7222T>C (p.Leu2408=)
NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)
NM_015046.7(SETX):c.7234A>G (p.Ile2412Val)
NM_015046.7(SETX):c.7248G>A (p.Lys2416=)
NM_015046.7(SETX):c.7271A>G (p.His2424Arg)
NM_015046.7(SETX):c.7281C>G (p.Thr2427=)	rs1482971726

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.