ClinVar Miner

List of variants in gene RPGR reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_000328.3(RPGR):c.1084_1087dup (p.Val363fs) rs527236109
NM_000328.3(RPGR):c.1179T>G (p.Tyr393Ter)
NM_000328.3(RPGR):c.1234C>T (p.Arg412Ter)
NM_000328.3(RPGR):c.1236_1239del (p.Glu414fs)
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.133G>T (p.Glu45Ter) rs1555968524
NM_000328.3(RPGR):c.1393del (p.Leu465fs) rs1555964122
NM_000328.3(RPGR):c.1429G>T (p.Glu477Ter) rs1555962965
NM_000328.3(RPGR):c.155-1G>A
NM_000328.3(RPGR):c.1573-3C>G
NM_000328.3(RPGR):c.1731dup (p.Ala578fs)
NM_000328.3(RPGR):c.1894_1897del (p.Asp632fs) rs1555961964
NM_000328.3(RPGR):c.1905+1176_1905+1186del rs1555961350
NM_000328.3(RPGR):c.1905+1273_1905+1274del rs771214648
NM_000328.3(RPGR):c.1905+1548G>T rs1555961220
NM_000328.3(RPGR):c.1905+345_1905+346del rs1555961849
NM_000328.3(RPGR):c.1905+441del rs1064797365
NM_000328.3(RPGR):c.1905+479del rs1569237206
NM_000328.3(RPGR):c.1905+500_1905+501del rs398122960
NM_000328.3(RPGR):c.1905+511G>T rs1555961787
NM_000328.3(RPGR):c.1905+666del rs1555961704
NM_000328.3(RPGR):c.1905+700G>T rs1555961677
NM_000328.3(RPGR):c.1905+736G>T rs1569236609
NM_000328.3(RPGR):c.1905+742G>T rs1555961624
NM_000328.3(RPGR):c.1905+76G>T rs527236108
NM_000328.3(RPGR):c.1905+880G>T rs1057519236
NM_000328.3(RPGR):c.1905+959G>A rs1555961491
NM_000328.3(RPGR):c.1905+982del rs1064797364
NM_000328.3(RPGR):c.1905+990dup rs1569235999
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs)
NM_000328.3(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_000328.3(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_000328.3(RPGR):c.469+1G>A rs62638646
NM_000328.3(RPGR):c.633del (p.Tyr212fs) rs1555966753
NM_000328.3(RPGR):c.752G>A (p.Gly251Asp) rs1555966699
NM_000328.3(RPGR):c.779-3C>A rs1555965712
NM_000328.3(RPGR):c.806G>A (p.Gly269Glu) rs398123336
NM_000328.3(RPGR):c.808C>T (p.Gln270Ter) rs878853374
NM_000328.3(RPGR):c.894_895del (p.Ser298fs) rs527236111
NM_000328.3(RPGR):c.914dup (p.Asn305fs) rs1555965653
NM_000328.3(RPGR):c.922G>C (p.Ala308Pro) rs527236112

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.