ClinVar Miner

List of variants reported as likely pathogenic for RPGR-related retinopathy by 3billion

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2190del (p.Glu732fs)
NM_001034853.2(RPGR):c.2237_2238del (p.Glu746fs) rs2147199015
NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter) rs267606453
NM_001034853.2(RPGR):c.2389_2452dup (p.Glu818fs)
NM_001034853.2(RPGR):c.2479del (p.Glu827fs)
NM_001034853.2(RPGR):c.2482G>T (p.Glu828Ter)
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs) rs1569236971
NM_001034853.2(RPGR):c.2522del (p.Glu841fs) rs1601922202
NM_001034853.2(RPGR):c.2706_2707del (p.Glu903fs)
NM_001034853.2(RPGR):c.2808dup (p.Gly937fs)
NM_001034853.2(RPGR):c.2840_2841insAGGGGAGGATGGAGAAGGG (p.Glu950fs)
NM_001034853.2(RPGR):c.2840del (p.Glu947fs)
NM_001034853.2(RPGR):c.2894del (p.Glu965fs) rs2147193654
NM_001034853.2(RPGR):c.29-2A>C
NM_001034853.2(RPGR):c.2961_2968dup (p.Gly990fs)
NM_001034853.2(RPGR):c.2985_2986del (p.Glu996fs)
NM_001034853.2(RPGR):c.2997_2998del (p.Glu1000fs)
NM_001034853.2(RPGR):c.3092_3093dup (p.Gly1032fs)
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp) rs1601972449
NM_001034853.2(RPGR):c.843del (p.Phe281fs)
NM_001034853.2(RPGR):c.935-2del

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.