List of variants in gene SLC25A1 studied for 2-hydroxyglutaric aciduria

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_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)	rs431905509	0.00003
NM_005984.5(SLC25A1):c.392C>T (p.Ala131Val)	rs782380351	0.00001
NM_005984.5(SLC25A1):c.638A>G (p.Asn213Ser)	rs1555922433	0.00001
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)	rs483352911
NM_005984.5(SLC25A1):c.578C>T (p.Ser193Leu)	rs781925968
NM_005984.5(SLC25A1):c.821+1G>A	rs781974501
NM_005984.5(SLC25A1):c.889T>C (p.Tyr297His)	rs2083956740
NM_005984.5(SLC25A1):c.928A>G (p.Thr310Ala)	rs1601397432

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.