ClinVar Miner

List of variants in gene RPGR reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2543del (p.Glu848fs) rs1233849070 0.00002
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
NM_001034853.2(RPGR):c.101_102insC (p.Asn34_Asp35insTer)
NM_001034853.2(RPGR):c.101del (p.Asn34fs) rs281865295
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.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.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.1251del (p.Arg417fs)
NM_001034853.2(RPGR):c.1315del (p.Ala439fs)
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.1377_1378del (p.Leu460fs) rs62653029
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter) rs886044302
NM_001034853.2(RPGR):c.139dup (p.Ser47fs)
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.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.1561C>T (p.Gln521Ter)
NM_001034853.2(RPGR):c.1572+1G>A rs1601931052
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.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.1787C>A (p.Ser596Ter) rs2067202860
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.183dup (p.Asn62Ter) rs2067976030
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs) rs2067200470
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.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.2006G>A (p.Trp669Ter) rs2067196800
NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)
NM_001034853.2(RPGR):c.2048dup (p.Gly684fs)
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter) rs2067194648
NM_001034853.2(RPGR):c.2070del (p.Glu691fs) rs1601924055
NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter) rs2147199844
NM_001034853.2(RPGR):c.2099_2138dup (p.Glu714fs)
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter) rs2067193056
NM_001034853.2(RPGR):c.2140del (p.Glu714fs)
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.2173C>T (p.Gln725Ter) rs907856232
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.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.2248G>T (p.Glu750Ter)
NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs) rs1475590979
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.2270_2271del (p.Glu757fs)
NM_001034853.2(RPGR):c.2278G>T (p.Glu760Ter)
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.2311_2314del (p.Glu771fs)
NM_001034853.2(RPGR):c.2320G>T (p.Glu774Ter)
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.2333del (p.Glu778fs)
NM_001034853.2(RPGR):c.2336_2337insTC (p.Glu779fs)
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.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs) rs2067182636
NM_001034853.2(RPGR):c.2412_2418del (p.Gly805fs)
NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter) rs2067182354
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.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.2455_2468del (p.Val819fs)
NM_001034853.2(RPGR):c.2457dup (p.Glu820fs)
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.2471del (p.Gly824fs)
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs) rs2067179633
NM_001034853.2(RPGR):c.248-1G>A
NM_001034853.2(RPGR):c.248-1G>T
NM_001034853.2(RPGR):c.2482G>T (p.Glu828Ter)
NM_001034853.2(RPGR):c.2485G>T (p.Glu829Ter)
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.2506del (p.Glu836fs)
NM_001034853.2(RPGR):c.2509G>T (p.Glu837Ter) rs2067177281
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.2548del (p.Glu850fs) rs2067174697
NM_001034853.2(RPGR):c.255del (p.Lys85fs) rs1555968248
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.2601_2602del (p.Glu868fs) rs2067169934
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter) rs1555961677
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.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.2650G>T (p.Glu884Ter) rs137852549
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.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_2731dup (p.Glu911fs)
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.2777_2778del (p.Glu926fs) rs1601920532
NM_001034853.2(RPGR):c.2782G>T (p.Gly928Ter)
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.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.2851_2854dup (p.Glu952fs)
NM_001034853.2(RPGR):c.2854G>T (p.Glu952Ter)
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.2893G>T (p.Glu965Ter) rs1420285326
NM_001034853.2(RPGR):c.2894del (p.Glu965fs) rs2147193654
NM_001034853.2(RPGR):c.2910_2914del (p.Glu971fs)
NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter) rs2067140471
NM_001034853.2(RPGR):c.2923dup (p.Glu975fs)
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs) rs2067138439
NM_001034853.2(RPGR):c.2939del (p.Glu980fs)
NM_001034853.2(RPGR):c.2944del (p.Glu982fs)
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.2971del (p.Glu991fs) rs2067134254
NM_001034853.2(RPGR):c.2992G>T (p.Glu998Ter)
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.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.3039_3040del (p.Glu1014fs) rs2067127718
NM_001034853.2(RPGR):c.3040del (p.Glu1014fs)
NM_001034853.2(RPGR):c.305C>G (p.Ser102Ter)
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.3133G>T (p.Glu1045Ter)
NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter) rs2067118339
NM_001034853.2(RPGR):c.3166_3167del (p.Arg1056fs)
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001034853.2(RPGR):c.3197_3198del (p.Glu1066fs)
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.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.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.41dup (p.Phe15fs)
NM_001034853.2(RPGR):c.430C>T (p.Gln144Ter)
NM_001034853.2(RPGR):c.442G>C (p.Gly148Arg)
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs) rs281865297
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.536del (p.Asn179fs)
NM_001034853.2(RPGR):c.550C>T (p.Gln184Ter)
NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter) rs62650216
NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter) rs62638652
NM_001034853.2(RPGR):c.718G>T (p.Glu240Ter)
NM_001034853.2(RPGR):c.739C>T (p.Gln247Ter)
NM_001034853.2(RPGR):c.752G>A (p.Gly251Asp) rs1555966699
NM_001034853.2(RPGR):c.778+1G>A
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.934+1G>C rs62640592
NM_001034853.2(RPGR):c.935-2A>G rs2067498092
NM_001034853.2(RPGR):c.93G>A (p.Trp31Ter)
NM_001034853.2(RPGR):c.97A>T (p.Lys33Ter)

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