ClinVar Miner

List of variants in gene RPGR reported as pathogenic

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Total variants: 58
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HGVS dbSNP
GRCh37/hg19 Xp11.4(chrX:38144822-38164037)
NM_000328.2(RPGR):c.*644del
NM_000328.3(RPGR):c.1054_1058del (p.Lys352fs) rs1555965081
NM_000328.3(RPGR):c.1059+363G>A rs1410177435
NM_000328.3(RPGR):c.1187dup (p.Leu396fs) rs1555964576
NM_000328.3(RPGR):c.1366C>T (p.Gln456Ter) rs1060501181
NM_000328.3(RPGR):c.1368_1369AG[2] (p.Ser458fs) rs1555964133
NM_000328.3(RPGR):c.1387C>T (p.Gln463Ter) rs886044302
NM_000328.3(RPGR):c.154G>A (p.Gly52Arg)
NM_000328.3(RPGR):c.155-2A>G rs62638632
NM_000328.3(RPGR):c.1572+3A>T rs1555962831
NM_000328.3(RPGR):c.1671del (p.Ala558fs) rs1569238659
NM_000328.3(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_000328.3(RPGR):c.1905+1024G>T rs137852551
NM_000328.3(RPGR):c.1905+1042G>T rs1569235803
NM_000328.3(RPGR):c.1905+1088_1905+1091del rs1569235677
NM_000328.3(RPGR):c.1905+1187_1905+1188del rs606231181
NM_000328.3(RPGR):c.1905+1191_1905+1192del rs606231180
NM_000328.3(RPGR):c.1905+1406dup rs886041376
NM_000328.3(RPGR):c.1905+23C>G rs869312185
NM_000328.3(RPGR):c.1905+331_1905+332del rs1555961852
NM_000328.3(RPGR):c.1905+414AG[2] rs1555961832
NM_000328.3(RPGR):c.1905+479del rs1569237206
NM_000328.3(RPGR):c.1905+500_1905+501del rs398122960
NM_000328.3(RPGR):c.1905+521_1905+522del rs730882261
NM_000328.3(RPGR):c.1905+537_1905+540del rs1569237077
NM_000328.3(RPGR):c.1905+600_1905+601del rs1569236971
NM_000328.3(RPGR):c.1905+745G>T rs137852549
NM_000328.3(RPGR):c.1905+942_1905+943inv rs267607019
NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs)
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer)
NM_000328.3(RPGR):c.248-2A>G rs62638633
NM_000328.3(RPGR):c.28+1G>C
NM_000328.3(RPGR):c.296C>A (p.Thr99Asn) rs62638637
NM_000328.3(RPGR):c.389T>G (p.Phe130Cys) rs62638644
NM_000328.3(RPGR):c.423del (p.Ile142fs) rs1569258901
NM_000328.3(RPGR):c.469+1G>T rs62638646
NM_000328.3(RPGR):c.485_486del (p.Phe162fs) rs281865297
NM_000328.3(RPGR):c.486del (p.Phe162fs) rs281865297
NM_000328.3(RPGR):c.505G>T (p.Glu169Ter) rs369037463
NM_000328.3(RPGR):c.517G>C (p.Gly173Arg) rs137852550
NM_000328.3(RPGR):c.578_588del (p.Ser193fs) rs1569257917
NM_000328.3(RPGR):c.642_656delinsC (p.Gly215fs) rs796065331
NM_000328.3(RPGR):c.703C>T (p.Pro235Ser) rs62638651
NM_000328.3(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_000328.3(RPGR):c.983del (p.Gly328fs) rs1555965107
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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