ClinVar Miner

List of variants in gene RPGR reported as pathogenic by OMIM

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Total variants: 26
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HGVS dbSNP
NM_000328.2(RPGR):c.1059+363G>A rs1410177435
NM_000328.2(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_000328.2(RPGR):c.1905+500_1905+501delAG rs398122960
NM_000328.2(RPGR):c.296C>A (p.Thr99Asn) rs62638637
NM_000328.2(RPGR):c.389T>G (p.Phe130Cys) rs62638644
NM_000328.2(RPGR):c.469+1G>T
NM_000328.2(RPGR):c.517G>C (p.Gly173Arg) rs137852550
NM_000328.2(RPGR):c.703C>T (p.Pro235Ser) rs62638651
NM_000328.2(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_001034853.1(RPGR):c.2650G>T (p.Glu884Ter) rs137852549
NM_001034853.1(RPGR):c.2847_2848delAGinsCT (p.Glu949_Glu950delinsAspTer) rs267607019
NM_001034853.1(RPGR):c.2929G>T (p.Gly977Ter) rs137852551
NM_001034853.1(RPGR):c.3092_3093del (p.Glu1031Glyfs) rs606231181
NM_001034853.1(RPGR):c.3096_3097del (p.Glu1033Argfs) rs606231180
RPGR, 1-BP INS, 173A
RPGR, 15-BP DEL, NT694
RPGR, 2-BP DEL, 652AG
RPGR, 2-BP DEL, 673AG
RPGR, 2-BP DEL, 845TG
RPGR, 2-BP DEL, NT1571
RPGR, 4-BP DEL, NT1433
RPGR, 57-BP DEL, NT631
RPGR, 912G-T
RPGR, EX15ADEL
RPGR, IVS10DS, A-G, +3
RPGR, IVS15, G-T, +1164

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