ClinVar Miner

List of variants in gene RPGR studied for not provided

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Gene type:
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Total variants: 153
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HGVS dbSNP
NM_000328.2(RPGR):c.*157_*171del rs281865317
NM_000328.2(RPGR):c.*177_*178insA rs281865318
NM_000328.2(RPGR):c.*372_*392dup rs281865319
NM_000328.2(RPGR):c.*477_*497dup rs281865320
NM_000328.2(RPGR):c.*624_*635del rs281865321
NM_000328.2(RPGR):c.*638_*649del rs281865322
NM_000328.2(RPGR):c.*74del rs281865315
NM_000328.2(RPGR):c.*874_*875insA rs281865323
NM_000328.2(RPGR):c.*93_*113del rs281865316
NM_000328.2(RPGR):c.1905+1146_1905+1148delGGA rs200955614
NM_000328.2(RPGR):c.1905+429_1905+431delGGA rs201730068
NM_000328.2(RPGR):c.1905+701_1905+715delAAGAAGGGGAGGAAG rs200824587
NM_000328.2(RPGR):c.2447_*13del rs281865314
NM_000328.3(RPGR):c.-16C>T rs748771594
NM_000328.3(RPGR):c.101del (p.Asn34fs) rs281865295
NM_000328.3(RPGR):c.1033A>G (p.Asn345Asp) rs41305223
NM_000328.3(RPGR):c.1054_1058del (p.Lys352fs) rs1555965081
NM_000328.3(RPGR):c.1066T>C (p.Cys356Arg) rs794726978
NM_000328.3(RPGR):c.106G>T (p.Val36Phe) rs62638628
NM_000328.3(RPGR):c.1092dup (p.Ala365fs) rs281865301
NM_000328.3(RPGR):c.1100del (p.Pro367fs) rs62635000
NM_000328.3(RPGR):c.1120G>T (p.Glu374Ter) rs62635001
NM_000328.3(RPGR):c.1145A>T (p.Asp382Val) rs757714144
NM_000328.3(RPGR):c.1164G>A (p.Ala388=) rs1801686
NM_000328.3(RPGR):c.1187dup (p.Leu396fs) rs1555964576
NM_000328.3(RPGR):c.1237_1238AG[5] (p.Glu416fs) rs281865302
NM_000328.3(RPGR):c.1245+16A>G rs5918522
NM_000328.3(RPGR):c.1245+3A>G rs62635002
NM_000328.3(RPGR):c.1257A>C (p.Pro419=) rs759743089
NM_000328.3(RPGR):c.1261_1279del (p.Ser421fs) rs281865303
NM_000328.3(RPGR):c.1274G>A (p.Arg425Lys) rs1801687
NM_000328.3(RPGR):c.127G>A (p.Gly43Arg) rs62638629
NM_000328.3(RPGR):c.128G>A (p.Gly43Glu) rs62638630
NM_000328.3(RPGR):c.1291A>G (p.Ile431Val) rs62635003
NM_000328.3(RPGR):c.1307G>A (p.Gly436Asp) rs62635004
NM_000328.3(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
NM_000328.3(RPGR):c.1348T>C (p.Cys450Arg) rs794727019
NM_000328.3(RPGR):c.1367A>G (p.Gln456Arg) rs144635565
NM_000328.3(RPGR):c.1377_1378del (p.Leu460fs) rs62653029
NM_000328.3(RPGR):c.1387C>T (p.Gln463Ter) rs886044302
NM_000328.3(RPGR):c.1402_1405del (p.Pro468fs) rs62653030
NM_000328.3(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000328.3(RPGR):c.1477del (p.Gly494fs) rs62635005
NM_000328.3(RPGR):c.1478T>A (p.Leu493His) rs62635006
NM_000328.3(RPGR):c.1507-68T>C rs62643066
NM_000328.3(RPGR):c.1507-97T>C rs62635007
NM_000328.3(RPGR):c.1508_1509CA[2] (p.Ile505fs) rs281865304
NM_000328.3(RPGR):c.154G>A (p.Gly52Arg)
NM_000328.3(RPGR):c.154G>T (p.Gly52Ter) rs281865296
NM_000328.3(RPGR):c.155-2A>G rs62638632
NM_000328.3(RPGR):c.1572+11A>G rs62635008
NM_000328.3(RPGR):c.1573-1G>A rs62635010
NM_000328.3(RPGR):c.1573-2A>G rs62635009
NM_000328.3(RPGR):c.1573-8A>G rs62635011
NM_000328.3(RPGR):c.1575_1578del (p.Lys525fs) rs281865305
NM_000328.3(RPGR):c.1576_1578CAA[1] (p.Gln527del) rs62653033
NM_000328.3(RPGR):c.1598C>T (p.Thr533Met) rs41312104
NM_000328.3(RPGR):c.1697G>A (p.Gly566Glu) rs1801688
NM_000328.3(RPGR):c.1709C>T (p.Thr570Met) rs202154504
NM_000328.3(RPGR):c.1747G>T (p.Glu583Ter) rs62635013
NM_000328.3(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_000328.3(RPGR):c.1835dup (p.Asn612fs) rs62635014
NM_000328.3(RPGR):c.1905+1176_1905+1186del rs1555961350
NM_000328.3(RPGR):c.1905+1406dup rs886041376
NM_000328.3(RPGR):c.1905+1491C>T rs12687163
NM_000328.3(RPGR):c.1905+1502G>A rs150960964
NM_000328.3(RPGR):c.1905+1508A>G rs1569234937
NM_000328.3(RPGR):c.1905+331_1905+332del rs1555961852
NM_000328.3(RPGR):c.1905+436G>A rs5917557
NM_000328.3(RPGR):c.1905+441del rs1064797365
NM_000328.3(RPGR):c.1905+506G>A rs147388235
NM_000328.3(RPGR):c.1905+511G>T rs1555961787
NM_000328.3(RPGR):c.1905+630_1905+653del rs760332126
NM_000328.3(RPGR):c.1905+666del rs1555961704
NM_000328.3(RPGR):c.1905+700G>T rs1555961677
NM_000328.3(RPGR):c.1905+736G>T rs1569236609
NM_000328.3(RPGR):c.1905+742G>T rs1555961624
NM_000328.3(RPGR):c.1905+880G>T rs1057519236
NM_000328.3(RPGR):c.1905+959G>A rs1555961491
NM_000328.3(RPGR):c.1905+982del rs1064797364
NM_000328.3(RPGR):c.1905+990dup rs1569235999
NM_000328.3(RPGR):c.1905+993G>A rs1064797363
NM_000328.3(RPGR):c.2055A>G (p.Arg685=) rs281865306
NM_000328.3(RPGR):c.2080A>T (p.Thr694Ser) rs281865307
NM_000328.3(RPGR):c.2226G>A (p.Met742Ile) rs281865308
NM_000328.3(RPGR):c.223A>G (p.Ile75Val) rs111631988
NM_000328.3(RPGR):c.2259A>T (p.Arg753Ser) rs281865309
NM_000328.3(RPGR):c.2260G>T (p.Val754Phe) rs281865310
NM_000328.3(RPGR):c.2311del (p.Glu771fs) rs281865311
NM_000328.3(RPGR):c.2332C>A (p.Gln778Lys) rs1555958965
NM_000328.3(RPGR):c.2357_2358del (p.Lys786fs) rs281865312
NM_000328.3(RPGR):c.2357_2375del (p.Lys786fs) rs281865313
NM_000328.3(RPGR):c.237_238del (p.Val81fs) rs62650215
NM_000328.3(RPGR):c.248-2A>G rs62638633
NM_000328.3(RPGR):c.248-6T>A rs62638635
NM_000328.3(RPGR):c.248-7T>C rs772049733
NM_000328.3(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_000328.3(RPGR):c.28+1G>A rs62638627
NM_000328.3(RPGR):c.28+5G>A rs62638626
NM_000328.3(RPGR):c.293_294AC[3] (p.Leu100fs) rs62638638
NM_000328.3(RPGR):c.294C>A (p.His98Gln) rs62638636
NM_000328.3(RPGR):c.296C>A (p.Thr99Asn) rs62638637
NM_000328.3(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_000328.3(RPGR):c.310+1G>C rs62638639
NM_000328.3(RPGR):c.310+3A>G rs62638640
NM_000328.3(RPGR):c.356del (p.Leu119fs) rs62638641
NM_000328.3(RPGR):c.36T>G (p.Gly12=) rs769123303
NM_000328.3(RPGR):c.372del (p.Glu125fs) rs62638642
NM_000328.3(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_000328.3(RPGR):c.389T>G (p.Phe130Cys) rs62638644
NM_000328.3(RPGR):c.415G>T (p.Glu139Ter) rs62638645
NM_000328.3(RPGR):c.467C>T (p.Thr156Ile) rs751512713
NM_000328.3(RPGR):c.469+1G>A rs62638646
NM_000328.3(RPGR):c.485_486del (p.Phe162fs) rs281865297
NM_000328.3(RPGR):c.486del (p.Phe162fs) rs281865297
NM_000328.3(RPGR):c.492G>A (p.Trp164Ter) rs62638648
NM_000328.3(RPGR):c.505G>T (p.Glu169Ter) rs369037463
NM_000328.3(RPGR):c.565G>A (p.Gly189Arg) rs1057523984
NM_000328.3(RPGR):c.581G>A (p.Trp194Ter) rs62650216
NM_000328.3(RPGR):c.605C>A (p.Ser202Ter) rs62650217
NM_000328.3(RPGR):c.617C>T (p.Thr206Ile) rs1555967757
NM_000328.3(RPGR):c.619+5G>A rs62638649
NM_000328.3(RPGR):c.620-41T>C rs45486397
NM_000328.3(RPGR):c.642_656delinsC (p.Gly215fs) rs796065331
NM_000328.3(RPGR):c.644G>T (p.Gly215Val) rs62650218
NM_000328.3(RPGR):c.703C>T (p.Pro235Ser) rs62638651
NM_000328.3(RPGR):c.706C>T (p.Gln236Ter) rs62638652
NM_000328.3(RPGR):c.730A>T (p.Lys244Ter) rs62638653
NM_000328.3(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000328.3(RPGR):c.747del (p.Cys250fs) rs62650219
NM_000328.3(RPGR):c.748T>C (p.Cys250Arg) rs62650220
NM_000328.3(RPGR):c.748_749TG[1] (p.Cys250fs) rs281865299
NM_000328.3(RPGR):c.777G>A (p.Thr259=) rs794727844
NM_000328.3(RPGR):c.778+5G>A rs62640583
NM_000328.3(RPGR):c.779-1G>A rs62638655
NM_000328.3(RPGR):c.785C>G (p.Ala262Gly) rs138018739
NM_000328.3(RPGR):c.806G>A (p.Gly269Glu) rs398123336
NM_000328.3(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_000328.3(RPGR):c.833_836del (p.Thr278fs) rs62640584
NM_000328.3(RPGR):c.836_837del (p.Phe279fs) rs62640586
NM_000328.3(RPGR):c.837del (p.Leu280fs) rs62640586
NM_000328.3(RPGR):c.865A>G (p.Ile289Val) rs62640587
NM_000328.3(RPGR):c.869del (p.Glu290fs) rs62640588
NM_000328.3(RPGR):c.886_900del (p.Thr296_Ile300del) rs62653026
NM_000328.3(RPGR):c.904T>C (p.Cys302Arg) rs62640589
NM_000328.3(RPGR):c.905G>A (p.Cys302Tyr) rs62640590
NM_000328.3(RPGR):c.905G>C (p.Cys302Ser) rs62640590
NM_000328.3(RPGR):c.931A>G (p.Thr311Ala) rs62640591
NM_000328.3(RPGR):c.934+1G>A rs62640592
NM_000328.3(RPGR):c.934+1G>C rs62640592
NM_000328.3(RPGR):c.958G>A (p.Gly320Arg) rs62640593
NM_000328.3(RPGR):c.980T>G (p.Leu327Ter) rs62640594
NM_000328.3(RPGR):c.994G>T (p.Glu332Ter) rs62642058

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