ClinVar Miner

List of variants in gene RPGR reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 441
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.1059+363G>A rs1410177435 0.00010
NM_001034853.2(RPGR):c.2543del (p.Glu848fs) rs1233849070 0.00002
GRCh37/hg19 Xp11.4(chrX:38144822-38164037)
GRCh38/hg38 Xp11.4(chrX:38269073-38287133)x0
GRCh38/hg38 Xp11.4(chrX:38297187-38299239)x0
GRCh38/hg38 Xp11.4(chrX:38301150-38301469)x0
NC_000023.10:g.(?_38132619)_(38164063_?)del
NC_000023.10:g.(?_38150626)_(38150757_?)del
NC_000023.10:g.(?_38160137)_(38160644_?)del
NC_000023.10:g.(?_38182086)_(38182797_?)del
NC_000023.10:g.(?_38186573)_(38186620_?)del
NG_009553.1:g.(46900_53331)_53439del
NM_000328.2(RPGR):c.*644del rs1601890980
NM_000328.3(RPGR):c.1997_1998del (p.Val666fs)
NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs) rs1601891967
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer) rs1601891936
NM_001034853.2(RPGR):c.101_102insC (p.Asn34_Asp35insTer)
NM_001034853.2(RPGR):c.101del (p.Asn34fs) rs281865295
NM_001034853.2(RPGR):c.1054_1058del (p.Lys352fs) rs1555965081
NM_001034853.2(RPGR):c.1062dup (p.Ala355fs)
NM_001034853.2(RPGR):c.1068T>A (p.Cys356Ter)
NM_001034853.2(RPGR):c.1086_1107dup (p.Gly370fs)
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs) rs281865301
NM_001034853.2(RPGR):c.110_122del (p.Pro37fs)
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter) rs62635001
NM_001034853.2(RPGR):c.1126G>T (p.Glu376Ter) rs2067451355
NM_001034853.2(RPGR):c.1169_1170del (p.Phe390fs)
NM_001034853.2(RPGR):c.1187dup (p.Leu396fs) rs1555964576
NM_001034853.2(RPGR):c.1206_1215del (p.Gln403fs)
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs) rs2067448565
NM_001034853.2(RPGR):c.1217_1218insTT (p.Ser407fs)
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs) rs1601943325
NM_001034853.2(RPGR):c.1220C>A (p.Ser407Ter) rs772201779
NM_001034853.2(RPGR):c.1225del (p.Arg409fs)
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter) rs1601943268
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs) rs281865302
NM_001034853.2(RPGR):c.1245+1G>T
NM_001034853.2(RPGR):c.1245+3A>G rs62635002
NM_001034853.2(RPGR):c.1246-2A>C rs2067410562
NM_001034853.2(RPGR):c.1251del (p.Arg417fs)
NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs) rs2067408614
NM_001034853.2(RPGR):c.1315del (p.Ala439fs)
NM_001034853.2(RPGR):c.1334C>G (p.Ser445Ter) rs1601940608
NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
NM_001034853.2(RPGR):c.1345C>T (p.Arg449Ter) rs2067406342
NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter) rs1060501181
NM_001034853.2(RPGR):c.1372_1373del (p.Ser458fs) rs1555964133
NM_001034853.2(RPGR):c.1375_1376del (p.Val459fs) rs2067404808
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs) rs62653029
NM_001034853.2(RPGR):c.1379del (p.Leu460fs) rs2147227522
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter) rs886044302
NM_001034853.2(RPGR):c.139dup (p.Ser47fs)
NM_001034853.2(RPGR):c.1402_1405del (p.Pro468fs) rs62653030
NM_001034853.2(RPGR):c.1505dup (p.Met502fs)
NM_001034853.2(RPGR):c.1512_1513del (p.Ile505fs) rs281865304
NM_001034853.2(RPGR):c.1534G>T (p.Glu512Ter)
NM_001034853.2(RPGR):c.154+1G>A rs2067985165
NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter) rs2147211363
NM_001034853.2(RPGR):c.1548del (p.Lys516fs)
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) rs281865296
NM_001034853.2(RPGR):c.154G>T (p.Gly52Ter) rs281865296
NM_001034853.2(RPGR):c.155-1G>A rs1601982595
NM_001034853.2(RPGR):c.155-2A>G rs62638632
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
NM_001034853.2(RPGR):c.1572+1G>A rs1601931052
NM_001034853.2(RPGR):c.1572+3A>T rs1555962831
NM_001034853.2(RPGR):c.1573-1G>A rs62635010
NM_001034853.2(RPGR):c.1573-2A>G rs62635009
NM_001034853.2(RPGR):c.1579C>T (p.Gln527Ter)
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs) rs2147203790
NM_001034853.2(RPGR):c.1591G>T (p.Glu531Ter)
NM_001034853.2(RPGR):c.1600C>T (p.Gln534Ter)
NM_001034853.2(RPGR):c.1606dup (p.Thr536fs)
NM_001034853.2(RPGR):c.1617del (p.Glu540fs)
NM_001034853.2(RPGR):c.1649del (p.Met550fs)
NM_001034853.2(RPGR):c.1671del (p.Ala558fs) rs1569238659
NM_001034853.2(RPGR):c.1685_1686del (p.His562fs) rs2067217662
NM_001034853.2(RPGR):c.1693C>T (p.Gln565Ter)
NM_001034853.2(RPGR):c.1728_1735del (p.Glu577fs)
NM_001034853.2(RPGR):c.1747G>T (p.Glu583Ter) rs62635013
NM_001034853.2(RPGR):c.1754-15_1754-5del rs2067203546
NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter) rs2067202860
NM_001034853.2(RPGR):c.1796dup (p.Asn599fs) rs2147200895
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_001034853.2(RPGR):c.1807_1819dup (p.Glu607fs)
NM_001034853.2(RPGR):c.1810C>T (p.Gln604Ter)
NM_001034853.2(RPGR):c.1836del (p.Asn612fs) rs2067201253
NM_001034853.2(RPGR):c.183dup (p.Asn62Ter) rs2067976030
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs) rs2067200470
NM_001034853.2(RPGR):c.1880C>G (p.Ser627Ter)
NM_001034853.2(RPGR):c.1881dup (p.Asp628fs)
NM_001034853.2(RPGR):c.189del (p.Trp64fs)
NM_001034853.2(RPGR):c.1919del (p.Lys640fs)
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs) rs2067199347
NM_001034853.2(RPGR):c.1928C>G (p.Ser643Ter) rs869312185
NM_001034853.2(RPGR):c.1932_1933insC (p.Gly645fs) rs2147200451
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp) rs1601982532
NM_001034853.2(RPGR):c.1952dup (p.Pro651_Glu652insTer)
NM_001034853.2(RPGR):c.1956del (p.Gly653fs)
NM_001034853.2(RPGR):c.1966dup (p.Asp656fs) rs2067198376
NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter) rs2067196800
NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter) rs1601924184
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs) rs1601924111
NM_001034853.2(RPGR):c.2048dup (p.Gly684fs)
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter) rs2067194648
NM_001034853.2(RPGR):c.2059dup (p.Glu687fs) rs2067194747
NM_001034853.2(RPGR):c.2070del (p.Glu691fs) rs1601924055
NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter) rs2147199844
NM_001034853.2(RPGR):c.2073_2080dup (p.Lys694fs)
NM_001034853.2(RPGR):c.2078_2148dup (p.Gln717delinsArgArgAsnTer) rs2147199457
NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter) rs2067193671
NM_001034853.2(RPGR):c.2099_2138dup (p.Glu714fs)
NM_001034853.2(RPGR):c.2105_2213dup (p.Glu742fs)
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter) rs2067193056
NM_001034853.2(RPGR):c.2123A>G (p.Glu708Gly) rs2067192032
NM_001034853.2(RPGR):c.2140del (p.Glu714fs)
NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs) rs2067191541
NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter) rs2067191335
NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)
NM_001034853.2(RPGR):c.2167A>T (p.Arg723Ter)
NM_001034853.2(RPGR):c.2167del (p.Arg723fs) rs2067190976
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter) rs907856232
NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter) rs1601923813
NM_001034853.2(RPGR):c.2194del (p.Glu732fs)
NM_001034853.2(RPGR):c.219del (p.Ala74fs) rs1601982474
NM_001034853.2(RPGR):c.2212G>T (p.Gly738Ter)
NM_001034853.2(RPGR):c.2215G>T (p.Glu739Ter)
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter) rs983693027
NM_001034853.2(RPGR):c.2219_2223del (p.Glu740fs)
NM_001034853.2(RPGR):c.2221_2224del (p.Glu741fs) rs1601923578
NM_001034853.2(RPGR):c.2229dup (p.Asp744fs)
NM_001034853.2(RPGR):c.2232_2235del (p.Asp744fs)
NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs) rs1555961852
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2245del (p.Glu749fs)
NM_001034853.2(RPGR):c.2246_2253del (p.Glu749fs)
NM_001034853.2(RPGR):c.2248G>T (p.Glu750Ter)
NM_001034853.2(RPGR):c.2249_2253del (p.Glu750fs) rs2067188031
NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs) rs1475590979
NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter) rs267606453
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter) rs2067187550
NM_001034853.2(RPGR):c.2270_2271del (p.Glu757fs)
NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter) rs1601923388
NM_001034853.2(RPGR):c.2274_2277del (p.Gly759fs)
NM_001034853.2(RPGR):c.2278G>T (p.Glu760Ter)
NM_001034853.2(RPGR):c.2283_2284del (p.Glu762fs) rs2067187127
NM_001034853.2(RPGR):c.2284del (p.Glu762fs)
NM_001034853.2(RPGR):c.2293G>T (p.Glu765Ter) rs2147198765
NM_001034853.2(RPGR):c.2293_2305del (p.Glu765fs)
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs) rs2067186632
NM_001034853.2(RPGR):c.2311_2314del (p.Glu771fs)
NM_001034853.2(RPGR):c.2320G>T (p.Glu774Ter)
NM_001034853.2(RPGR):c.2321_2348del (p.Glu774fs) rs2067185063
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.2330del (p.Lys777fs) rs2147198604
NM_001034853.2(RPGR):c.2333del (p.Glu778fs)
NM_001034853.2(RPGR):c.2336_2337insTC (p.Glu779fs)
NM_001034853.2(RPGR):c.2340_2341del (p.Arg780fs) rs2067185505
NM_001034853.2(RPGR):c.2340del (p.Ala781fs) rs2067185564
NM_001034853.2(RPGR):c.2346del (p.Lys783fs) rs1064797365
NM_001034853.2(RPGR):c.2350_2368del (p.Glu784fs)
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
NM_001034853.2(RPGR):c.2360del (p.Gly787fs)
NM_001034853.2(RPGR):c.2377C>T (p.Gln793Ter) rs2067184023
NM_001034853.2(RPGR):c.2384_2385del (p.Glu795fs)
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.2390_2408del (p.Glu797fs)
NM_001034853.2(RPGR):c.2403_2406del (p.Glu802fs) rs2067183162
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter) rs1601922877
NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs) rs2067182636
NM_001034853.2(RPGR):c.2412_2418del (p.Gly805fs)
NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter) rs1555961787
NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter) rs2067182354
NM_001034853.2(RPGR):c.2423_2424del (p.Lys808fs)
NM_001034853.2(RPGR):c.2424del (p.Glu809fs)
NM_001034853.2(RPGR):c.2424dup (p.Glu809fs)
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1]) rs777850798
NM_001034853.2(RPGR):c.2433_2436del (p.Gly812fs)
NM_001034853.2(RPGR):c.2433del (p.Glu813fs)
NM_001034853.2(RPGR):c.2437G>T (p.Glu813Ter)
NM_001034853.2(RPGR):c.2440_2468del (p.Val814fs)
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2447del (p.Gly816fs) rs1854473658
NM_001034853.2(RPGR):c.2454del (p.Glu818_Val819insTer)
NM_001034853.2(RPGR):c.2455_2468del (p.Val819fs)
NM_001034853.2(RPGR):c.2457_2460del (p.Glu820fs) rs2067180395
NM_001034853.2(RPGR):c.2457dup (p.Glu820fs)
NM_001034853.2(RPGR):c.2461G>T (p.Glu821Ter) rs2067180233
NM_001034853.2(RPGR):c.2469del (p.Gly824fs)
NM_001034853.2(RPGR):c.247+2T>C
NM_001034853.2(RPGR):c.247+5G>A rs2067974156
NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter) rs2147197584
NM_001034853.2(RPGR):c.2470_2471del (p.Gly824fs) rs2067179881
NM_001034853.2(RPGR):c.2471del (p.Gly824fs)
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs) rs2067179633
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter) rs2067179538
NM_001034853.2(RPGR):c.248-1G>A
NM_001034853.2(RPGR):c.248-1G>T
NM_001034853.2(RPGR):c.248-2A>G rs62638633
NM_001034853.2(RPGR):c.2480_2520dup (p.Glu841fs) rs2147197209
NM_001034853.2(RPGR):c.2482G>T (p.Glu828Ter)
NM_001034853.2(RPGR):c.2485G>T (p.Glu829Ter)
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter) rs865977487
NM_001034853.2(RPGR):c.2494del (p.Glu832fs)
NM_001034853.2(RPGR):c.2501_2502del (p.Glu834fs)
NM_001034853.2(RPGR):c.2501del (p.Glu834fs) rs2067178120
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs) rs1569236971
NM_001034853.2(RPGR):c.2506del (p.Glu836fs)
NM_001034853.2(RPGR):c.2509G>T (p.Glu837Ter) rs2067177281
NM_001034853.2(RPGR):c.2512del (p.Glu838fs) rs2147197281
NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs) rs2067176379
NM_001034853.2(RPGR):c.2517_2518del (p.Glu841fs) rs1373833359
NM_001034853.2(RPGR):c.2522_2525dup (p.Glu843fs) rs2147197113
NM_001034853.2(RPGR):c.2522_2543del (p.Glu841fs)
NM_001034853.2(RPGR):c.2522del (p.Glu841fs) rs1601922202
NM_001034853.2(RPGR):c.2527del (p.Glu843fs)
NM_001034853.2(RPGR):c.2527dup (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.2548G>T (p.Glu850Ter) rs1601922074
NM_001034853.2(RPGR):c.2548del (p.Glu850fs) rs2067174697
NM_001034853.2(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_001034853.2(RPGR):c.2562del (p.Glu855fs)
NM_001034853.2(RPGR):c.2568dup (p.Lys857fs) rs2067172824
NM_001034853.2(RPGR):c.2569_2570insG (p.Lys857fs)
NM_001034853.2(RPGR):c.2571_2572del (p.Glu859fs) rs2067172385
NM_001034853.2(RPGR):c.2571del (p.Glu859fs) rs1555961704
NM_001034853.2(RPGR):c.2574_2575del (p.Glu859fs)
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.2590G>T (p.Glu864Ter)
NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter) rs1601978991
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs) rs2067169934
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter) rs1555961677
NM_001034853.2(RPGR):c.2610_2611del (p.Glu872fs)
NM_001034853.2(RPGR):c.2613_2614del (p.Glu872fs)
NM_001034853.2(RPGR):c.2614G>T (p.Glu872Ter)
NM_001034853.2(RPGR):c.2617G>T (p.Glu873Ter)
NM_001034853.2(RPGR):c.2622_3056del (p.Gly876_Glu1020del) rs2067126569
NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs) rs2067166789
NM_001034853.2(RPGR):c.2630del (p.Glu877fs)
NM_001034853.2(RPGR):c.2635del (p.Glu879fs)
NM_001034853.2(RPGR):c.2644G>T (p.Glu882Ter)
NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter) rs1555961624
NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter) rs137852549
NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs) rs2067164096
NM_001034853.2(RPGR):c.2665G>T (p.Glu889Ter) rs2067163605
NM_001034853.2(RPGR):c.2679_2680del (p.Glu894fs) rs2147195624
NM_001034853.2(RPGR):c.2689G>T (p.Glu897Ter) rs2067161460
NM_001034853.2(RPGR):c.2692G>T (p.Glu898Ter)
NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter) rs2067161139
NM_001034853.2(RPGR):c.2706_2707del (p.Glu903fs)
NM_001034853.2(RPGR):c.2710_2713del (p.Gly904fs)
NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs) rs2067160273
NM_001034853.2(RPGR):c.2716G>T (p.Glu906Ter)
NM_001034853.2(RPGR):c.2730_2731del (p.Glu911fs)
NM_001034853.2(RPGR):c.2730_2731dup (p.Glu911fs)
NM_001034853.2(RPGR):c.2735del (p.Gly912fs) rs2067159265
NM_001034853.2(RPGR):c.2743G>T (p.Glu915Ter)
NM_001034853.2(RPGR):c.2750del (p.Gly917fs)
NM_001034853.2(RPGR):c.2752G>T (p.Glu918Ter)
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2764G>T (p.Glu922Ter)
NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs) rs1601920599
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs) rs1601920532
NM_001034853.2(RPGR):c.2782G>T (p.Gly928Ter)
NM_001034853.2(RPGR):c.2785dup (p.Glu929fs) rs2067155200
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs) rs1601920423
NM_001034853.2(RPGR):c.2791del (p.Glu931fs)
NM_001034853.2(RPGR):c.2792del (p.Glu931fs)
NM_001034853.2(RPGR):c.2797del (p.Glu933fs) rs1346308311
NM_001034853.2(RPGR):c.2803G>T (p.Glu935Ter)
NM_001034853.2(RPGR):c.2819_2837dup (p.Glu947fs)
NM_001034853.2(RPGR):c.2825_2970del (p.Glu942fs)
NM_001034853.2(RPGR):c.282_283del (p.Cys94fs)
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs) rs1555961509
NM_001034853.2(RPGR):c.2840_2841insAGGGGAGGATGGAGAAGGGG (p.Glu950fs)
NM_001034853.2(RPGR):c.2845G>T (p.Glu949Ter)
NM_001034853.2(RPGR):c.2845del (p.Glu949fs) rs2067148119
NM_001034853.2(RPGR):c.2847_2848inv (p.Glu949_Glu950delinsAspTer)
NM_001034853.2(RPGR):c.2848G>T (p.Glu950Ter) rs1601919915
NM_001034853.2(RPGR):c.2851_2854dup (p.Glu952fs)
NM_001034853.2(RPGR):c.2854G>T (p.Glu952Ter)
NM_001034853.2(RPGR):c.2862dup (p.Trp955fs)
NM_001034853.2(RPGR):c.2863_2866del (p.Trp955fs)
NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter) rs2067146202
NM_001034853.2(RPGR):c.2867del (p.Glu956fs) rs2067146007
NM_001034853.2(RPGR):c.2873_2874insGGATGGAGGAAGGAGAAGGGGAAGGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGA (p.Glu959fs)
NM_001034853.2(RPGR):c.2878G>T (p.Glu960Ter)
NM_001034853.2(RPGR):c.2887del (p.Glu963fs) rs1064797364
NM_001034853.2(RPGR):c.2892_2893del (p.Glu965fs) rs2067144007
NM_001034853.2(RPGR):c.2893G>T (p.Glu965Ter) rs1420285326
NM_001034853.2(RPGR):c.2894del (p.Glu965fs) rs2147193654
NM_001034853.2(RPGR):c.2899dup (p.Glu967fs) rs1569235999
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.2910_2914del (p.Glu971fs)
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs) rs2067140574
NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter) rs2067140471
NM_001034853.2(RPGR):c.2923dup (p.Glu975fs)
NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter) rs137852551
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs) rs2067138439
NM_001034853.2(RPGR):c.2937_2953del (p.Glu980fs) rs2067136586
NM_001034853.2(RPGR):c.2939del (p.Glu980fs)
NM_001034853.2(RPGR):c.2944del (p.Glu982fs)
NM_001034853.2(RPGR):c.2945_2964del (p.Glu982fs) rs2067135227
NM_001034853.2(RPGR):c.2947G>T (p.Glu983Ter) rs1569235803
NM_001034853.2(RPGR):c.2953G>T (p.Glu985Ter)
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs) rs1555961440
NM_001034853.2(RPGR):c.2965G>T (p.Glu989Ter)
NM_001034853.2(RPGR):c.2966del (p.Glu989fs) rs2067134850
NM_001034853.2(RPGR):c.296C>A (p.Thr99Asn) rs62638637
NM_001034853.2(RPGR):c.2971del (p.Glu991fs) rs2067134254
NM_001034853.2(RPGR):c.2992G>T (p.Glu998Ter)
NM_001034853.2(RPGR):c.2993_2996del (p.Glu998fs) rs1569235677
NM_001034853.2(RPGR):c.2993_2997del (p.Glu998fs)
NM_001034853.2(RPGR):c.2994del (p.Glu1000fs)
NM_001034853.2(RPGR):c.2997_2998del (p.Glu1000fs)
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_001034853.2(RPGR):c.3007_3008del (p.Gly1003fs)
NM_001034853.2(RPGR):c.3007_3010del (p.Gly1003fs)
NM_001034853.2(RPGR):c.3017_3018del (p.Glu1006fs)
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs) rs1569235565
NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)
NM_001034853.2(RPGR):c.3034del (p.Glu1012fs) rs2067128124
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs) rs2067127718
NM_001034853.2(RPGR):c.3040del (p.Glu1014fs)
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter) rs2067127275
NM_001034853.2(RPGR):c.3050_3051del (p.Glu1017fs)
NM_001034853.2(RPGR):c.305C>G (p.Ser102Ter)
NM_001034853.2(RPGR):c.3070G>T (p.Glu1024Ter) rs1799325384
NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs) rs2067124487
NM_001034853.2(RPGR):c.3081_3082del (p.Glu1028fs) rs1601918140
NM_001034853.2(RPGR):c.3082G>T (p.Glu1028Ter)
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.3097del (p.Glu1033fs)
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001034853.2(RPGR):c.3106del (p.Glu1036fs)
NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter) rs866524368
NM_001034853.2(RPGR):c.310G>T (p.Glu104Ter) rs1601978823
NM_001034853.2(RPGR):c.3133G>T (p.Glu1045Ter)
NM_001034853.2(RPGR):c.3150_3151del (p.Glu1051fs) rs2147190794
NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter) rs2067118339
NM_001034853.2(RPGR):c.3166_3167del (p.Arg1056fs)
NM_001034853.2(RPGR):c.3175del (p.Arg1059fs) rs2067117666
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter) rs2147190626
NM_001034853.2(RPGR):c.3197_3198del (p.Glu1066fs)
NM_001034853.2(RPGR):c.3212_3218del (p.Glu1071fs) rs2147190470
NM_001034853.2(RPGR):c.3220G>T (p.Glu1074Ter)
NM_001034853.2(RPGR):c.3248_3252del (p.Glu1083fs)
NM_001034853.2(RPGR):c.3250G>T (p.Glu1084Ter)
NM_001034853.2(RPGR):c.3255C>A (p.Tyr1085Ter)
NM_001034853.2(RPGR):c.327dup (p.Ala110fs) rs2067878443
NM_001034853.2(RPGR):c.3308_3309del (p.Tyr1103fs)
NM_001034853.2(RPGR):c.3313A>T (p.Lys1105Ter)
NM_001034853.2(RPGR):c.3316_3319del (p.Lys1106fs)
NM_001034853.2(RPGR):c.3317del (p.Lys1106fs)
NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs) rs886041376
NM_001034853.2(RPGR):c.3348del (p.Glu1117fs)
NM_001034853.2(RPGR):c.335G>A (p.Gly112Asp) rs2067878321
NM_001034853.2(RPGR):c.335del (p.Gly112fs)
NM_001034853.2(RPGR):c.3364dup (p.Met1122fs)
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter) rs1601917052
NM_001034853.2(RPGR):c.3389del (p.Leu1129_Leu1130insTer)
NM_001034853.2(RPGR):c.349_350insA (p.Gly117fs)
NM_001034853.2(RPGR):c.350G>A (p.Gly117Glu)
NM_001034853.2(RPGR):c.372del (p.Glu125fs) rs62638642
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001034853.2(RPGR):c.379del (p.Arg127fs) rs2067877633
NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser) rs62638644
NM_001034853.2(RPGR):c.389T>G (p.Phe130Cys) rs62638644
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs) rs1601974881
NM_001034853.2(RPGR):c.41dup (p.Phe15fs)
NM_001034853.2(RPGR):c.423del (p.Ile142fs) rs1569258901
NM_001034853.2(RPGR):c.430C>T (p.Gln144Ter)
NM_001034853.2(RPGR):c.442G>C (p.Gly148Arg)
NM_001034853.2(RPGR):c.469+1G>T rs62638646
NM_001034853.2(RPGR):c.470-73_619+1581del
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.492G>A (p.Trp164Ter) rs62638648
NM_001034853.2(RPGR):c.501T>A (p.Asn167Lys) rs2147276925
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter) rs369037463
NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg) rs137852550
NM_001034853.2(RPGR):c.536del (p.Asn179fs)
NM_001034853.2(RPGR):c.544_545del (p.Val182fs) rs2147276819
NM_001034853.2(RPGR):c.550C>T (p.Gln184Ter)
NM_001034853.2(RPGR):c.572_619+9del
NM_001034853.2(RPGR):c.578_588del (p.Ser193fs) rs1569257917
NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter) rs62650216
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg) rs1601972255
NM_001034853.2(RPGR):c.597T>G (p.Tyr199Ter)
NM_001034853.2(RPGR):c.602A>T (p.His201Leu) rs2067845149
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs) rs796065331
NM_001034853.2(RPGR):c.665T>G (p.Leu222Ter) rs2147261937
NM_001034853.2(RPGR):c.679C>T (p.Gln227Ter) rs2067700774
NM_001034853.2(RPGR):c.703C>T (p.Pro235Ser) rs62638651
NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter) rs62638652
NM_001034853.2(RPGR):c.706del (p.Gln236fs) rs1601961173
NM_001034853.2(RPGR):c.718G>T (p.Glu240Ter)
NM_001034853.2(RPGR):c.736_745dup (p.Ala249fs) rs2147261738
NM_001034853.2(RPGR):c.739C>T (p.Gln247Ter)
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr) rs1601961064
NM_001034853.2(RPGR):c.752G>A (p.Gly251Asp) rs1555966699
NM_001034853.2(RPGR):c.778+1G>A
NM_001034853.2(RPGR):c.779-1G>A rs62638655
NM_001034853.2(RPGR):c.779-2A>G rs2147248124
NM_001034853.2(RPGR):c.779-5T>G rs2067565504
NM_001034853.2(RPGR):c.789_790del (p.Thr265fs) rs2147248070
NM_001034853.2(RPGR):c.792dup (p.Thr265fs)
NM_001034853.2(RPGR):c.793_794dup (p.Phe266fs)
NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu) rs398123336
NM_001034853.2(RPGR):c.815G>T (p.Gly272Val)
NM_001034853.2(RPGR):c.81del (p.Gly28fs)
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_001034853.2(RPGR):c.823G>C (p.Gly275Arg) rs62642057
NM_001034853.2(RPGR):c.823G>T (p.Gly275Cys)
NM_001034853.2(RPGR):c.837del (p.Leu280fs) rs62640586
NM_001034853.2(RPGR):c.838_842del (p.Phe279_Leu280insTer)
NM_001034853.2(RPGR):c.869del (p.Glu290fs) rs62640588
NM_001034853.2(RPGR):c.897T>A (p.Tyr299Ter) rs2147247751
NM_001034853.2(RPGR):c.897dup (p.Ile300fs) rs1601951704
NM_001034853.2(RPGR):c.907G>T (p.Gly303Ter) rs2067562201
NM_001034853.2(RPGR):c.919del (p.Thr307fs) rs1601951595
NM_001034853.2(RPGR):c.934+1G>A rs62640592
NM_001034853.2(RPGR):c.934+1G>C rs62640592
NM_001034853.2(RPGR):c.934+1G>T rs62640592
NM_001034853.2(RPGR):c.934+2T>C rs2147247534
NM_001034853.2(RPGR):c.934G>A (p.Asp312Asn)
NM_001034853.2(RPGR):c.935-1G>T rs2067498051
NM_001034853.2(RPGR):c.935-2A>G rs2067498092
NM_001034853.2(RPGR):c.93G>A (p.Trp31Ter)
NM_001034853.2(RPGR):c.957del (p.Phe319fs) rs1601947074
NM_001034853.2(RPGR):c.97A>T (p.Lys33Ter)
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter) rs62640594
NM_001034853.2(RPGR):c.983del (p.Gly328fs) rs1555965107

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