ClinVar Miner

List of variants in gene RPGR studied for Retinal dystrophy

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Total variants: 181
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2341G>A (p.Ala781Thr) rs5917557 0.13157
NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=) rs12687163 0.12023
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_001034853.2(RPGR):c.2223G>A (p.Glu741=) rs147619484 0.08849
NM_001034853.2(RPGR):c.3430G>A (p.Val1144Ile) rs12688514 0.07772
NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=) rs111787313 0.06277
NM_001034853.2(RPGR):c.3264G>A (p.Val1088=) rs78736275 0.06219
NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val) rs62635003 0.05955
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly) rs138018739 0.00035
NM_001034853.2(RPGR):c.2543del (p.Glu848fs) rs1233849070 0.00002
NM_001034853.2(RPGR):c.827T>G (p.Leu276Arg) rs771616566 0.00002
NM_001034853.2(RPGR):c.1754-9G>A rs762495217 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
NM_000328.3(RPGR):c.2057C>T (p.Thr686Ile)
NM_000328.3(RPGR):c.2265C>T (p.Pro755=)
NM_000328.3(RPGR):c.2366A>T (p.Asp789Val)
NM_001034853.2(RPGR):c.101del (p.Asn34fs) rs281865295
NM_001034853.2(RPGR):c.1040del (p.Phe346_Leu347insTer)
NM_001034853.2(RPGR):c.1048A>G (p.Ile350Val)
NM_001034853.2(RPGR):c.1060-2A>G rs2067453631
NM_001034853.2(RPGR):c.1077T>A (p.Cys359Ter)
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs) rs281865301
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter) rs62635001
NM_001034853.2(RPGR):c.1125T>G (p.Ile375Met)
NM_001034853.2(RPGR):c.1126G>T (p.Glu376Ter) rs2067451355
NM_001034853.2(RPGR):c.1135G>T (p.Glu379Ter)
NM_001034853.2(RPGR):c.1170del (p.Leu391fs) rs2067449854
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+3A>G rs62635002
NM_001034853.2(RPGR):c.1281A>G (p.Thr427=)
NM_001034853.2(RPGR):c.128dup (p.Asp44fs) rs2067985696
NM_001034853.2(RPGR):c.1304_1305del (p.Leu435fs)
NM_001034853.2(RPGR):c.1345C>T (p.Arg449Ter) rs2067406342
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.1491del (p.Asp498fs) rs2067277129
NM_001034853.2(RPGR):c.1538del (p.Lys513fs) rs2067267431
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) rs281865296
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
NM_001034853.2(RPGR):c.1567C>T (p.Gln523Ter)
NM_001034853.2(RPGR):c.1572+1del rs878853373
NM_001034853.2(RPGR):c.1573-2del
NM_001034853.2(RPGR):c.1594C>T (p.Leu532=)
NM_001034853.2(RPGR):c.1612C>G (p.Leu538Val)
NM_001034853.2(RPGR):c.1642G>T (p.Glu548Ter)
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.1685_1686del (p.His562fs) rs2067217662
NM_001034853.2(RPGR):c.168_169del (p.Tyr57fs) rs2067976665
NM_001034853.2(RPGR):c.1691dup (p.Gln565fs) rs2067217398
NM_001034853.2(RPGR):c.1720A>T (p.Thr574Ser)
NM_001034853.2(RPGR):c.1721_1722insAT (p.Thr574_Thr575insTer)
NM_001034853.2(RPGR):c.1724_1725insGCATGAAGCAT (p.Ile576fs)
NM_001034853.2(RPGR):c.1726A>T (p.Ile576Phe)
NM_001034853.2(RPGR):c.1728_1729insATGACGCAT (p.Ile576_Glu577insMetThrHis)
NM_001034853.2(RPGR):c.1753G>A (p.Glu585Lys) rs2067215010
NM_001034853.2(RPGR):c.1754-2dup rs2067203496
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_001034853.2(RPGR):c.1807del (p.Glu603fs)
NM_001034853.2(RPGR):c.1840_1843dup (p.Val615fs) rs2067201139
NM_001034853.2(RPGR):c.1928C>G (p.Ser643Ter) rs869312185
NM_001034853.2(RPGR):c.193G>C (p.Gly65Arg) rs2067975926
NM_001034853.2(RPGR):c.1957G>A (p.Gly653Ser)
NM_001034853.2(RPGR):c.1983A>C (p.Glu661Asp)
NM_001034853.2(RPGR):c.198G>C (p.Gln66His) rs2067975683
NM_001034853.2(RPGR):c.2002del (p.His668fs)
NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)
NM_001034853.2(RPGR):c.200TAGGAT[1] (p.67LG[1]) rs2067975228
NM_001034853.2(RPGR):c.2032_2034delinsAA (p.Glu678fs) rs2067196140
NM_001034853.2(RPGR):c.203G>T (p.Gly68Val) rs2067975335
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter) rs2067194648
NM_001034853.2(RPGR):c.2073_2080dup (p.Lys694fs)
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.2146G>T (p.Glu716Ter) rs2067191335
NM_001034853.2(RPGR):c.2153del (p.Gly718fs)
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.2234_2237del (p.Arg745fs) rs1555961852
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
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.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter) rs2067187550
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.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.2340del (p.Ala781fs) rs2067185564
NM_001034853.2(RPGR):c.2342C>T (p.Ala781Val)
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del) rs1287687440
NM_001034853.2(RPGR):c.2377C>T (p.Gln793Ter) rs2067184023
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.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.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2427G>A (p.Glu809=)
NM_001034853.2(RPGR):c.2437G>T (p.Glu813Ter)
NM_001034853.2(RPGR):c.2442A>G (p.Val814=)
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.247+5G>A rs2067974156
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter) rs2067179538
NM_001034853.2(RPGR):c.2501_2522del (p.Glu834fs) rs2067176160
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.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.2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs) rs2067169934
NM_001034853.2(RPGR):c.2608G>T (p.Glu870Ter) rs2067169164
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.2695G>T (p.Glu899Ter) rs2067161139
NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs) rs2067160273
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2764dup (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2821G>T (p.Gly941Trp) rs763102799
NM_001034853.2(RPGR):c.2839del (p.Glu947fs) rs1555961509
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.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter) rs2067140471
NM_001034853.2(RPGR):c.2930G>T (p.Gly977Val) rs1234506102
NM_001034853.2(RPGR):c.2937_2953del (p.Glu980fs) rs2067136586
NM_001034853.2(RPGR):c.2947G>T (p.Glu983Ter) rs1569235803
NM_001034853.2(RPGR):c.296C>T (p.Thr99Ile)
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
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.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.310+7T>G rs2067929126
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.3120GGA[1] (p.Glu1042del) rs748582313
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del) rs746535151
NM_001034853.2(RPGR):c.3190G>T (p.Glu1064Ter) rs2067117239
NM_001034853.2(RPGR):c.3202A>T (p.Lys1068Ter)
NM_001034853.2(RPGR):c.327dup (p.Ala110fs) rs2067878443
NM_001034853.2(RPGR):c.3300_3301del (p.His1100fs) rs2067114709
NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs) rs886041376
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.362T>G (p.Leu121Arg) rs2067878147
NM_001034853.2(RPGR):c.372del (p.Glu125fs) rs62638642
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.389_390del (p.Phe130fs) rs1601974881
NM_001034853.2(RPGR):c.443G>A (p.Gly148Glu) rs2067875982
NM_001034853.2(RPGR):c.469+1G>A rs62638646
NM_001034853.2(RPGR):c.484_486del (p.Phe162del) rs281865297
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.492G>A (p.Trp164Ter) rs62638648
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg) rs2067847091
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter) rs369037463
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs) rs796065331
NM_001034853.2(RPGR):c.679C>T (p.Gln227Ter) rs2067700774
NM_001034853.2(RPGR):c.764C>T (p.Thr255Ile)
NM_001034853.2(RPGR):c.808C>T (p.Gln270Ter) rs878853374
NM_001034853.2(RPGR):c.823G>C (p.Gly275Arg) rs62642057
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr) rs62640590
NM_001034853.2(RPGR):c.908G>A (p.Gly303Glu) rs878853375
NM_001034853.2(RPGR):c.934+1G>A rs62640592
NM_001034853.2(RPGR):c.934+1G>T rs62640592
NM_001034853.2(RPGR):c.935-2A>G rs2067498092
NM_001034853.2(RPGR):c.972C>T (p.His324=)

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