ClinVar Miner

List of variants in gene RPGR studied for RPGR-related retinopathy

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_000328.3(RPGR):c.2241+11T>C rs4084271 0.20121
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=) rs1801686 0.11812
NM_000328.3(RPGR):c.2149+46C>T rs41312110 0.03703
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001034853.2(RPGR):c.552G>T (p.Gln184His) rs5963403 0.02128
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys) rs151247357 0.00794
NM_001034853.2(RPGR):c.2793G>A (p.Glu931=) rs1446705794 0.00203
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln) rs150549982 0.00046
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala) rs768169831 0.00012
NM_001034853.2(RPGR):c.1059+363G>A rs1410177435 0.00010
NM_001034853.2(RPGR):c.2543del (p.Glu848fs) rs1233849070 0.00002
NM_001034853.2(RPGR):c.1059+9A>G rs781086486 0.00001
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg) rs794727019 0.00001
NM_001034853.2(RPGR):c.2041_2042del (p.Lys681fs) rs1569237670 0.00001
NM_001034853.2(RPGR):c.2417A>G (p.Glu806Gly) rs1364555173 0.00001
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
NG_009553.1:g.(46900_53331)_53439del
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs) rs2067448565
NM_001034853.2(RPGR):c.1225del (p.Arg409fs)
NM_001034853.2(RPGR):c.122C>A (p.Ser41Ter) rs2067985937
NM_001034853.2(RPGR):c.1245+3A>G rs62635002
NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)
NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter) rs1060501181
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.1402_1405del (p.Pro468fs) rs62653030
NM_001034853.2(RPGR):c.1415-9A>G rs2067278631
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val) rs2147212880
NM_001034853.2(RPGR):c.1496T>C (p.Ile499Thr)
NM_001034853.2(RPGR):c.1506+4del rs2067276668
NM_001034853.2(RPGR):c.1512_1513del (p.Ile505fs) rs281865304
NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter) rs2147211363
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) rs281865296
NM_001034853.2(RPGR):c.1573-2A>G rs62635009
NM_001034853.2(RPGR):c.1600C>T (p.Gln534Ter)
NM_001034853.2(RPGR):c.1671del (p.Ala558fs) rs1569238659
NM_001034853.2(RPGR):c.1711C>T (p.Gln571Ter) rs2067216516
NM_001034853.2(RPGR):c.173T>A (p.Met58Lys) rs2067976284
NM_001034853.2(RPGR):c.1753+2T>G
NM_001034853.2(RPGR):c.1754-3C>G rs2147201026
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.1813G>T (p.Glu605Ter)
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs) rs2067200470
NM_001034853.2(RPGR):c.1880C>A (p.Ser627Ter) rs2147200625
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs) rs2067199347
NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter) rs2147290510
NM_001034853.2(RPGR):c.197A>G (p.Gln66Arg)
NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter) rs2067196800
NM_001034853.2(RPGR):c.2008_2017del (p.Gln670fs) rs2067196699
NM_001034853.2(RPGR):c.200TAGGAT[1] (p.67LG[1]) rs2067975228
NM_001034853.2(RPGR):c.2027_2078dup (p.Glu693_Lys694insGlyGlyGluArgGlnGlyTer) rs2067193857
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter) rs2067194648
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.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.2146G>T (p.Glu716Ter) rs2067191335
NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)
NM_001034853.2(RPGR):c.2158C>T (p.Gln720Ter) rs2067191154
NM_001034853.2(RPGR):c.2168_2171del (p.Arg723fs) rs2067190922
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter) rs907856232
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter) rs983693027
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.2249_2253del (p.Glu750fs) rs2067188031
NM_001034853.2(RPGR):c.2251A>T (p.Lys751Ter) rs2067188111
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.2283_2284del (p.Glu762fs) rs2067187127
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.2321_2330del (p.Glu774fs)
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.2327_2354del (p.Lys776fs) rs2067184831
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.2362_2366del (p.Glu788fs) rs2067184362
NM_001034853.2(RPGR):c.2377C>T (p.Gln793Ter) rs2067184023
NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter) rs2067183876
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
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.2409_2479dup (p.Glu827delinsGlyGluGlyArgLysLysArgArgGluGlyLysTer)
NM_001034853.2(RPGR):c.2409del (p.Arg804fs) rs2067182990
NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs) rs2067182636
NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter) rs2067182354
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.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1]) rs777850798
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2447del (p.Gly816fs) rs1854473658
NM_001034853.2(RPGR):c.2455_2468dup (p.Lys823_Gly824insTer) rs2147197604
NM_001034853.2(RPGR):c.2457_2460del (p.Glu820fs) rs2067180395
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.2479G>T (p.Glu827Ter) rs2067179538
NM_001034853.2(RPGR):c.247G>A (p.Ala83Thr) rs2067974263
NM_001034853.2(RPGR):c.248-28_248-10del rs1569260656
NM_001034853.2(RPGR):c.2481AGAGGA[1] (p.Glu831_Glu832del)
NM_001034853.2(RPGR):c.2488G>T (p.Glu830Ter) rs1601922510
NM_001034853.2(RPGR):c.2501_2522del (p.Glu834fs) rs2067176160
NM_001034853.2(RPGR):c.2501del (p.Glu834fs) rs2067178120
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs) rs1569236971
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.2526_2527del (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.2548del (p.Glu850fs) rs2067174697
NM_001034853.2(RPGR):c.2568dup (p.Lys857fs) rs2067172824
NM_001034853.2(RPGR):c.2571del (p.Glu859fs) rs1555961704
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.2587G>T (p.Glu863Ter) rs2147196529
NM_001034853.2(RPGR):c.2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs) rs2067169934
NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del) rs200824587
NM_001034853.2(RPGR):c.2610_2611del (p.Glu872fs)
NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)
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.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.2691GGA[1] (p.Glu899del) rs745428229
NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter) rs2067161139
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3]) rs757402645
NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs) rs2067160273
NM_001034853.2(RPGR):c.2731G>T (p.Glu911Ter) rs2067159456
NM_001034853.2(RPGR):c.2761G>C (p.Gly921Arg) rs2067157510
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2764dup (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs) rs1601920532
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs) rs1601920423
NM_001034853.2(RPGR):c.2792del (p.Glu931fs)
NM_001034853.2(RPGR):c.2819_2838dup (p.Glu947fs) rs2067149319
NM_001034853.2(RPGR):c.2821G>T (p.Gly941Trp) rs763102799
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.2845del (p.Glu949fs) rs2067148119
NM_001034853.2(RPGR):c.2847_2848inv (p.Glu949_Glu950delinsAspTer)
NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter) rs2067146202
NM_001034853.2(RPGR):c.2867del (p.Glu956fs) rs2067146007
NM_001034853.2(RPGR):c.2892_2893del (p.Glu965fs) rs2067144007
NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs) rs1569235999
NM_001034853.2(RPGR):c.29-2A>G rs2147291936
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.2919_2939dup (p.970GEGEGEE[3]) rs772859148
NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter) rs137852551
NM_001034853.2(RPGR):c.2930G>T (p.Gly977Val) rs1234506102
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.2939del (p.Glu980fs)
NM_001034853.2(RPGR):c.2945_2964del (p.Glu982fs) rs2067135227
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs) rs1555961440
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.2993_2996del (p.Glu998fs) rs1569235677
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs) rs1569235565
NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs) rs2067127718
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.3097dup (p.Glu1033fs) rs606231180
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.310G>A (p.Glu104Lys) rs1601978823
NM_001034853.2(RPGR):c.311-1G>A
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.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.3221_3225del (p.Glu1074fs)
NM_001034853.2(RPGR):c.322_324del (p.Val108del) rs2067878524
NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)
NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer) rs2067115815
NM_001034853.2(RPGR):c.3300_3301del (p.His1100fs) rs2067114709
NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs) rs886041376
NM_001034853.2(RPGR):c.3364del (p.Met1122fs)
NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys) rs2067111489
NM_001034853.2(RPGR):c.350G>T (p.Gly117Val)
NM_001034853.2(RPGR):c.389T>G (p.Phe130Cys) rs62638644
NM_001034853.2(RPGR):c.40G>A (p.Val14Met)
NM_001034853.2(RPGR):c.423del (p.Ile142fs) rs1569258901
NM_001034853.2(RPGR):c.457G>A (p.Ala153Thr) rs2067875526
NM_001034853.2(RPGR):c.469_469+5del rs2067875112
NM_001034853.2(RPGR):c.470-13T>G
NM_001034853.2(RPGR):c.470-73_619+1581del
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp) rs1601972449
NM_001034853.2(RPGR):c.544_545del (p.Val182fs) rs2147276819
NM_001034853.2(RPGR):c.547C>T (p.Pro183Ser)
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+4A>G rs2067844549
NM_001034853.2(RPGR):c.665T>G (p.Leu222Ter) rs2147261937
NM_001034853.2(RPGR):c.665del (p.Lys221_Leu222insTer)
NM_001034853.2(RPGR):c.703C>T (p.Pro235Ser) rs62638651
NM_001034853.2(RPGR):c.736_745dup (p.Ala249fs) rs2147261738
NM_001034853.2(RPGR):c.778+1del rs2147261624
NM_001034853.2(RPGR):c.778+3A>T rs1218824822
NM_001034853.2(RPGR):c.779-2A>G rs2147248124
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_001034853.2(RPGR):c.843dup (p.Glu282Ter)
NM_001034853.2(RPGR):c.897T>A (p.Tyr299Ter) rs2147247751
NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg) rs62640589
NM_001034853.2(RPGR):c.919del (p.Thr307fs) rs1601951595
NM_001034853.2(RPGR):c.920C>A (p.Thr307Lys) rs2147247612
NM_001034853.2(RPGR):c.934+2T>C rs2147247534
NM_001034853.2(RPGR):c.983del (p.Gly328fs) rs1555965107

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