ClinVar Miner

List of variants in gene RPGR reported by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_000328.3(RPGR):c.1237A>T (p.Arg413Ter) rs771039023
NM_000328.3(RPGR):c.126T>G (p.Cys42Trp) rs1555968526
NM_000328.3(RPGR):c.1368_1369AG[2] (p.Ser458fs) rs1555964133
NM_000328.3(RPGR):c.1393del (p.Leu465fs) rs1555964122
NM_000328.3(RPGR):c.1429G>T (p.Glu477Ter) rs1555962965
NM_000328.3(RPGR):c.1894_1897del (p.Asp632fs) rs1555961964
NM_000328.3(RPGR):c.1905+1548G>T rs1555961220
NM_000328.3(RPGR):c.1905+331_1905+332del rs1555961852
NM_000328.3(RPGR):c.1905+345_1905+346del rs1555961849
NM_000328.3(RPGR):c.1905+414AG[2] rs1555961832
NM_000328.3(RPGR):c.633del (p.Tyr212fs) rs1555966753
NM_000328.3(RPGR):c.779-3C>A rs1555965712
NM_000328.3(RPGR):c.914dup (p.Asn305fs) rs1555965653

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.