List of variants in gene RPGR reported as benign by Eurofins NTD LLC (GA)

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001034853.2(RPGR):c.29-15G>A	rs6651585	0.21451
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)	rs1801686	0.11812
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)	rs1801688	0.09526
NM_001034853.2(RPGR):c.1572+11A>G	rs62635008	0.09352
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)	rs1801687	0.09261
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)	rs111631988	0.03363
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)	rs41312104	0.02014
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg)	rs144635565	0.00806
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)	rs62638654	0.00191
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly)	rs138018739	0.00035
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)	rs62653033

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.