ClinVar Miner

List of variants in gene RPGR reported as likely pathogenic

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 283
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2041_2042del (p.Lys681fs) rs1569237670 0.00001
NM_000328.3(RPGR):c.1906-2A>G
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs) rs1601892395
NM_001034853.2(RPGR):c.1015dup (p.Ile339fs)
NM_001034853.2(RPGR):c.1040del (p.Phe346_Leu347insTer)
NM_001034853.2(RPGR):c.1040dup (p.Leu347fs) rs2147238438
NM_001034853.2(RPGR):c.1048A>G (p.Ile350Val)
NM_001034853.2(RPGR):c.1059+1del rs2147238385
NM_001034853.2(RPGR):c.1060-2A>G rs2067453631
NM_001034853.2(RPGR):c.1077T>A (p.Cys359Ter)
NM_001034853.2(RPGR):c.1084_1087dup (p.Val363fs) rs527236109
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.1135G>T (p.Glu379Ter)
NM_001034853.2(RPGR):c.114dup (p.His39fs) rs2147291671
NM_001034853.2(RPGR):c.1159del (p.Val387fs)
NM_001034853.2(RPGR):c.1170del (p.Leu391fs) rs2067449854
NM_001034853.2(RPGR):c.1179T>G (p.Tyr393Ter) rs1601943462
NM_001034853.2(RPGR):c.119_122del (p.Leu40fs)
NM_001034853.2(RPGR):c.1225del (p.Arg409fs)
NM_001034853.2(RPGR):c.122C>A (p.Ser41Ter) rs2067985937
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter) rs1601943268
NM_001034853.2(RPGR):c.1236_1239del (p.Glu414fs) rs1601943227
NM_001034853.2(RPGR):c.1237A>T (p.Arg413Ter) rs771039023
NM_001034853.2(RPGR):c.1245+1G>A rs2147232242
NM_001034853.2(RPGR):c.1245+3A>G rs62635002
NM_001034853.2(RPGR):c.126T>G (p.Cys42Trp) rs1555968526
NM_001034853.2(RPGR):c.127G>A (p.Gly43Arg) rs62638629
NM_001034853.2(RPGR):c.128dup (p.Asp44fs) rs2067985696
NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)
NM_001034853.2(RPGR):c.1304_1305del (p.Leu435fs)
NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
NM_001034853.2(RPGR):c.1374dup (p.Val459fs)
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs) rs62653029
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter) rs886044302
NM_001034853.2(RPGR):c.1393del (p.Leu465fs) rs1555964122
NM_001034853.2(RPGR):c.1414+1G>A
NM_001034853.2(RPGR):c.1414+1G>C
NM_001034853.2(RPGR):c.1415-9A>G rs2067278631
NM_001034853.2(RPGR):c.1429G>T (p.Glu477Ter) rs1555962965
NM_001034853.2(RPGR):c.1491del (p.Asp498fs) rs2067277129
NM_001034853.2(RPGR):c.1519del (p.Ser507fs)
NM_001034853.2(RPGR):c.1534G>T (p.Glu512Ter)
NM_001034853.2(RPGR):c.1538del (p.Lys513fs) rs2067267431
NM_001034853.2(RPGR):c.155-1G>A rs1601982595
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
NM_001034853.2(RPGR):c.1567C>T (p.Gln523Ter)
NM_001034853.2(RPGR):c.1573-12A>G rs2067221066
NM_001034853.2(RPGR):c.1573-2del
NM_001034853.2(RPGR):c.1573-3C>G rs1601926845
NM_001034853.2(RPGR):c.1573-8A>G rs62635011
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs) rs2147203790
NM_001034853.2(RPGR):c.1587del (p.Ile529fs)
NM_001034853.2(RPGR):c.159_160insTAA (p.Asn54Ter)
NM_001034853.2(RPGR):c.1642G>T (p.Glu548Ter)
NM_001034853.2(RPGR):c.1651dup (p.Ser551fs)
NM_001034853.2(RPGR):c.1663G>T (p.Glu555Ter) rs2067218363
NM_001034853.2(RPGR):c.1677T>A (p.Cys559Ter) rs2067217874
NM_001034853.2(RPGR):c.168_169del (p.Tyr57fs) rs2067976665
NM_001034853.2(RPGR):c.1691dup (p.Gln565fs) rs2067217398
NM_001034853.2(RPGR):c.1711C>T (p.Gln571Ter) rs2067216516
NM_001034853.2(RPGR):c.1721_1722insAT (p.Thr574_Thr575insTer)
NM_001034853.2(RPGR):c.1724_1725insGCATGAAGCAT (p.Ile576fs)
NM_001034853.2(RPGR):c.1731dup (p.Ala578fs) rs1601926125
NM_001034853.2(RPGR):c.173T>A (p.Met58Lys) rs2067976284
NM_001034853.2(RPGR):c.1753+2T>G
NM_001034853.2(RPGR):c.1754-214_1801del
NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter) rs2067202860
NM_001034853.2(RPGR):c.178G>A (p.Gly60Ser) rs2147290553
NM_001034853.2(RPGR):c.1807del (p.Glu603fs)
NM_001034853.2(RPGR):c.1813G>T (p.Glu605Ter)
NM_001034853.2(RPGR):c.1819_1820dup (p.Ala608fs)
NM_001034853.2(RPGR):c.1840_1843dup (p.Val615fs) rs2067201139
NM_001034853.2(RPGR):c.1843del (p.Val615fs)
NM_001034853.2(RPGR):c.1880C>A (p.Ser627Ter) rs2147200625
NM_001034853.2(RPGR):c.1881dup (p.Asp628fs)
NM_001034853.2(RPGR):c.1894_1897del (p.Asp632fs) rs1555961964
NM_001034853.2(RPGR):c.1906G>A (p.Val636Met)
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs) rs2067199347
NM_001034853.2(RPGR):c.1938_1939insAGAGG (p.Ala647fs)
NM_001034853.2(RPGR):c.193G>C (p.Gly65Arg) rs2067975926
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp) rs1601982532
NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter) rs2147290510
NM_001034853.2(RPGR):c.197A>G (p.Gln66Arg)
NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter) rs527236108
NM_001034853.2(RPGR):c.1983_1995del (p.Gly662fs)
NM_001034853.2(RPGR):c.2002del (p.His668fs)
NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)
NM_001034853.2(RPGR):c.2008_2017del (p.Gln670fs) rs2067196699
NM_001034853.2(RPGR):c.2027_2078dup (p.Glu693_Lys694insGlyGlyGluArgGlnGlyTer) rs2067193857
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg) rs1601982516
NM_001034853.2(RPGR):c.2032_2034delinsAA (p.Glu678fs) rs2067196140
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs) rs1601924111
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter) rs2067194648
NM_001034853.2(RPGR):c.2064del (p.Arg688fs)
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.2083del (p.Glu695fs)
NM_001034853.2(RPGR):c.2098_2101del (p.Glu700fs) rs2067193155
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter) rs2067193056
NM_001034853.2(RPGR):c.2118_2190dup (p.Gly731fs) rs2067190364
NM_001034853.2(RPGR):c.2125G>T (p.Glu709Ter) rs1305342570
NM_001034853.2(RPGR):c.2138del (p.Lys713fs) rs2067191635
NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter) rs2147199519
NM_001034853.2(RPGR):c.2153del (p.Gly718fs)
NM_001034853.2(RPGR):c.2158C>T (p.Gln720Ter) rs2067191154
NM_001034853.2(RPGR):c.2159_2162del (p.Gln720fs)
NM_001034853.2(RPGR):c.2168_2171del (p.Arg723fs) rs2067190922
NM_001034853.2(RPGR):c.2195del (p.Glu732fs)
NM_001034853.2(RPGR):c.219del (p.Ala74fs) rs1601982474
NM_001034853.2(RPGR):c.2221G>T (p.Glu741Ter)
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.2237_2238del (p.Glu746fs) rs2147199015
NM_001034853.2(RPGR):c.2240_2253del (p.Glu747fs)
NM_001034853.2(RPGR):c.2250_2251del (p.Lys751fs) rs1555961849
NM_001034853.2(RPGR):c.2251A>T (p.Lys751Ter) rs2067188111
NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter) rs267606453
NM_001034853.2(RPGR):c.2268del (p.Glu757fs)
NM_001034853.2(RPGR):c.2293_2297del (p.Glu765fs) rs2067186762
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs) rs2067186632
NM_001034853.2(RPGR):c.2316del (p.Gly773fs)
NM_001034853.2(RPGR):c.2321_2330del (p.Glu774fs)
NM_001034853.2(RPGR):c.2327_2354del (p.Lys776fs) rs2067184831
NM_001034853.2(RPGR):c.2336_2345dup (p.Glu784fs)
NM_001034853.2(RPGR):c.2346del (p.Lys783fs) rs1064797365
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
NM_001034853.2(RPGR):c.2360del (p.Gly787fs)
NM_001034853.2(RPGR):c.2362_2366del (p.Glu788fs) rs2067184362
NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter) rs2067183876
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2409del (p.Arg804fs) rs2067182990
NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter) rs1601922877
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.2420_2435del (p.Glu807fs) rs2147197891
NM_001034853.2(RPGR):c.2424_2427del (p.Glu809fs)
NM_001034853.2(RPGR):c.2425G>T (p.Glu809Ter) rs1168146969
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2437G>T (p.Glu813Ter)
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2447del (p.Gly816fs) rs1854473658
NM_001034853.2(RPGR):c.2452G>T (p.Glu818Ter) rs2147197770
NM_001034853.2(RPGR):c.2455_2468del (p.Val819fs)
NM_001034853.2(RPGR):c.246dup (p.Ala83fs)
NM_001034853.2(RPGR):c.247+1G>A
NM_001034853.2(RPGR):c.2474_2475insT (p.Glu825fs) rs2147197552
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.2488G>T (p.Glu830Ter) rs1601922510
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter) rs865977487
NM_001034853.2(RPGR):c.2501_2522del (p.Glu834fs) rs2067176160
NM_001034853.2(RPGR):c.2506dup (p.Glu836fs) rs1569236971
NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs) rs2067176379
NM_001034853.2(RPGR):c.2526_2527del (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.2527G>T (p.Glu843Ter)
NM_001034853.2(RPGR):c.2536dup (p.Glu846fs)
NM_001034853.2(RPGR):c.2541_2542del (p.Glu848fs)
NM_001034853.2(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)
NM_001034853.2(RPGR):c.2568dup (p.Lys857fs) rs2067172824
NM_001034853.2(RPGR):c.2569A>T (p.Lys857Ter)
NM_001034853.2(RPGR):c.2571del (p.Glu859fs) rs1555961704
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter) rs1555961677
NM_001034853.2(RPGR):c.2608G>T (p.Glu870Ter) rs2067169164
NM_001034853.2(RPGR):c.2625del (p.Glu877fs)
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)
NM_001034853.2(RPGR):c.2627_2648dup (p.Glu884fs) rs2067164990
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs) rs2067166789
NM_001034853.2(RPGR):c.2630del (p.Glu877fs)
NM_001034853.2(RPGR):c.2641G>T (p.Glu881Ter) rs1569236609
NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter) rs1555961624
NM_001034853.2(RPGR):c.264_265del (p.Lys88fs) rs2147285764
NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter) rs2067161139
NM_001034853.2(RPGR):c.2706_2707del (p.Glu903fs)
NM_001034853.2(RPGR):c.2716G>T (p.Glu906Ter)
NM_001034853.2(RPGR):c.2725G>T (p.Glu909Ter)
NM_001034853.2(RPGR):c.2731G>T (p.Glu911Ter) rs2067159456
NM_001034853.2(RPGR):c.2764dup (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs) rs1601920532
NM_001034853.2(RPGR):c.2785G>T (p.Glu929Ter) rs1057519236
NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg) rs1601978925
NM_001034853.2(RPGR):c.2817_2818del (p.Glu940fs) rs2147194427
NM_001034853.2(RPGR):c.2819_2838dup (p.Glu947fs) rs2067149319
NM_001034853.2(RPGR):c.2824del (p.Glu942fs) rs1601920131
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs) rs1555961509
NM_001034853.2(RPGR):c.2839del (p.Glu947fs) rs1555961509
NM_001034853.2(RPGR):c.283G>A (p.Gly95Arg)
NM_001034853.2(RPGR):c.2864G>A (p.Trp955Ter) rs1555961491
NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter) rs2067146202
NM_001034853.2(RPGR):c.2887del (p.Glu963fs) rs1064797364
NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs) rs1569235999
NM_001034853.2(RPGR):c.2899dup (p.Glu967fs) rs1569235999
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.29-2A>G rs2147291936
NM_001034853.2(RPGR):c.2909del (p.Gly970fs) rs2147193425
NM_001034853.2(RPGR):c.2911G>T (p.Glu971Ter)
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs) rs2067140574
NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3]) rs772859148
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.2938_2959dup (p.Glu987fs) rs2067136009
NM_001034853.2(RPGR):c.2971del (p.Glu991fs) rs2067134254
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_001034853.2(RPGR):c.3081_3091del (p.Glu1028fs) rs1555961350
NM_001034853.2(RPGR):c.3097dup (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.310+1_310+2insGGTGCTCAACCT rs1601978817
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter) rs866524368
NM_001034853.2(RPGR):c.311-1G>A
NM_001034853.2(RPGR):c.3120GGA[1] (p.Glu1042del) rs748582313
NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter) rs2067118339
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.3190G>T (p.Glu1064Ter) rs2067117239
NM_001034853.2(RPGR):c.3198_3214dup (p.Thr1072fs)
NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs) rs2147190484
NM_001034853.2(RPGR):c.3208C>T (p.Gln1070Ter)
NM_001034853.2(RPGR):c.3212_3218del (p.Glu1071fs) rs2147190470
NM_001034853.2(RPGR):c.3231_3234del (p.Asn1077fs)
NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)
NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer) rs2067115815
NM_001034853.2(RPGR):c.3263_3266del (p.Val1088fs)
NM_001034853.2(RPGR):c.327dup (p.Ala110fs) rs2067878443
NM_001034853.2(RPGR):c.3300_3301del (p.His1100fs) rs2067114709
NM_001034853.2(RPGR):c.334G>A (p.Gly112Ser)
NM_001034853.2(RPGR):c.335G>A (p.Gly112Asp) rs2067878321
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter) rs1601917052
NM_001034853.2(RPGR):c.3395del (p.Asn1132fs)
NM_001034853.2(RPGR):c.3453G>T (p.Leu1151Phe) rs1555961220
NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys) rs2067111489
NM_001034853.2(RPGR):c.360del (p.Gly122fs)
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001034853.2(RPGR):c.382_383del (p.Asn128fs) rs2067877357
NM_001034853.2(RPGR):c.389T>G (p.Phe130Cys) rs62638644
NM_001034853.2(RPGR):c.408dup (p.Thr137fs)
NM_001034853.2(RPGR):c.427A>T (p.Lys143Ter)
NM_001034853.2(RPGR):c.430C>T (p.Gln144Ter)
NM_001034853.2(RPGR):c.442G>A (p.Gly148Arg) rs2067876063
NM_001034853.2(RPGR):c.469+1G>A rs62638646
NM_001034853.2(RPGR):c.469_469+5del rs2067875112
NM_001034853.2(RPGR):c.470-1G>A
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg) rs2067847091
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp) rs1601972449
NM_001034853.2(RPGR):c.494G>T (p.Gly165Val)
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter) rs369037463
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg) rs1601972255
NM_001034853.2(RPGR):c.619+2T>A rs2067844613
NM_001034853.2(RPGR):c.619+2_619+5del
NM_001034853.2(RPGR):c.619+5G>C
NM_001034853.2(RPGR):c.620-2A>G
NM_001034853.2(RPGR):c.633del (p.Tyr212fs) rs1555966753
NM_001034853.2(RPGR):c.636T>G (p.Tyr212Ter)
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs) rs796065331
NM_001034853.2(RPGR):c.644G>T (p.Gly215Val) rs62650218
NM_001034853.2(RPGR):c.665del (p.Lys221_Leu222insTer)
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr) rs1601961064
NM_001034853.2(RPGR):c.778+1G>T
NM_001034853.2(RPGR):c.778+1del rs2147261624
NM_001034853.2(RPGR):c.779-1G>A rs62638655
NM_001034853.2(RPGR):c.779-3C>A rs1555965712
NM_001034853.2(RPGR):c.783_784insA (p.Ala262fs)
NM_001034853.2(RPGR):c.799G>C (p.Gly267Arg) rs2147248035
NM_001034853.2(RPGR):c.800G>T (p.Gly267Val) rs2147248019
NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu) rs398123336
NM_001034853.2(RPGR):c.808C>T (p.Gln270Ter) rs878853374
NM_001034853.2(RPGR):c.814G>T (p.Gly272Cys)
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.824G>A (p.Gly275Asp)
NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter) rs2067562961
NM_001034853.2(RPGR):c.894_895del (p.Ser298fs) rs527236111
NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg) rs62640589
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr) rs62640590
NM_001034853.2(RPGR):c.914dup (p.Asn305fs) rs1555965653
NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro) rs527236112
NM_001034853.2(RPGR):c.934G>T (p.Asp312Tyr)
NM_001034853.2(RPGR):c.957del (p.Phe319fs) rs1601947074
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter) rs62640594

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