ClinVar Miner

List of variants in gene RPGR studied for Retinitis pigmentosa

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Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val) rs62640587 0.00005
NM_000328.2(RPGR):c.*644del rs1601890980
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs) rs1601892395
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.1084_1087dup (p.Val363fs) rs527236109
NM_001034853.2(RPGR):c.114dup (p.His39fs) rs2147291671
NM_001034853.2(RPGR):c.1179T>G (p.Tyr393Ter) rs1601943462
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs) rs1601943325
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.1243_1244del (p.Arg415fs) rs281865302
NM_001034853.2(RPGR):c.126T>G (p.Cys42Trp) rs1555968526
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.1372_1373del (p.Ser458fs) rs1555964133
NM_001034853.2(RPGR):c.1393del (p.Leu465fs) rs1555964122
NM_001034853.2(RPGR):c.1429G>T (p.Glu477Ter) rs1555962965
NM_001034853.2(RPGR):c.154+1G>A rs2067985165
NM_001034853.2(RPGR):c.1572+1G>A rs1601931052
NM_001034853.2(RPGR):c.1572+3A>T rs1555962831
NM_001034853.2(RPGR):c.1573-3C>G rs1601926845
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs) rs2147203790
NM_001034853.2(RPGR):c.1731dup (p.Ala578fs) rs1601926125
NM_001034853.2(RPGR):c.1754-15_1754-5del rs2067203546
NM_001034853.2(RPGR):c.1894_1897del (p.Asp632fs) rs1555961964
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs) rs2067199347
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp) rs1601982532
NM_001034853.2(RPGR):c.1966dup (p.Asp656fs) rs2067198376
NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter) rs527236108
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter) rs1601924184
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg) rs1601982516
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs) rs1601924111
NM_001034853.2(RPGR):c.2059dup (p.Glu687fs) rs2067194747
NM_001034853.2(RPGR):c.2064del (p.Arg688fs)
NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter) rs2067193671
NM_001034853.2(RPGR):c.2123A>G (p.Glu708Gly) rs2067192032
NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs) rs2067191541
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.2221_2224del (p.Glu741fs) rs1601923578
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.2250_2251del (p.Lys751fs) rs1555961849
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter) rs1601923388
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs) rs2067186632
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.2346del (p.Lys783fs) rs1064797365
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
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.2410A>T (p.Arg804Ter) rs1601922877
NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter) rs1555961787
NM_001034853.2(RPGR):c.2420_2435del (p.Glu807fs) rs2147197891
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
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.2461G>T (p.Glu821Ter) rs2067180233
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.248-2A>G rs62638633
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter) rs865977487
NM_001034853.2(RPGR):c.2506dup (p.Glu836fs) rs1569236971
NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs) rs2067176379
NM_001034853.2(RPGR):c.2522del (p.Glu841fs) rs1601922202
NM_001034853.2(RPGR):c.2527dup (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)
NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter) rs1601978991
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter) rs1555961677
NM_001034853.2(RPGR):c.2622_3056del (p.Gly876_Glu1020del) rs2067126569
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.2735del (p.Gly912fs) rs2067159265
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.2790_2791del (p.Glu931fs) rs1601920423
NM_001034853.2(RPGR):c.2797del (p.Glu933fs) rs1346308311
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.2824del (p.Glu942fs) rs1601920131
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.2909del (p.Gly970fs) rs2147193425
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs) rs2067138439
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs) rs1555961440
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del) rs1356107537
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter) rs2067127275
NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs) rs2067124487
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
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.310G>T (p.Glu104Ter) rs1601978823
NM_001034853.2(RPGR):c.3175del (p.Arg1059fs) rs2067117666
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter) rs1601917052
NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser) rs62638644
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs) rs1601974881
NM_001034853.2(RPGR):c.469+1G>A rs62638646
NM_001034853.2(RPGR):c.492G>T (p.Trp164Cys) rs62638648
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp) rs1601972449
NM_001034853.2(RPGR):c.578_588del (p.Ser193fs) rs1569257917
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg) rs1601972255
NM_001034853.2(RPGR):c.602A>T (p.His201Leu) rs2067845149
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr) rs1601961064
NM_001034853.2(RPGR):c.779-3C>A rs1555965712
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_001034853.2(RPGR):c.894_895del (p.Ser298fs) rs527236111
NM_001034853.2(RPGR):c.897dup (p.Ile300fs) rs1601951704
NM_001034853.2(RPGR):c.907G>T (p.Gly303Ter) rs2067562201
NM_001034853.2(RPGR):c.914dup (p.Asn305fs) rs1555965653
NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro) rs527236112
NM_001034853.2(RPGR):c.935-1G>T rs2067498051
NM_001034853.2(RPGR):c.957del (p.Phe319fs) rs1601947074

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