ClinVar Miner

List of variants in gene RB1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 288
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.500+23T>G rs198617 0.93273
NM_000321.3(RB1):c.501-77A>G rs198616 0.92110
NM_000321.3(RB1):c.1499-182T>A rs2804085 0.91988
NM_000321.3(RB1):c.1695+97T>A rs2804086 0.91986
NM_000321.3(RB1):c.2106+185A>G rs198581 0.91031
NM_000321.3(RB1):c.2663+33C>T rs3020646 0.90292
NM_000321.3(RB1):c.2713+308G>A rs2984828 0.90273
NM_000321.3(RB1):c.2106+136C>T rs9562824 0.89112
NM_000321.3(RB1):c.1961-77G>A rs198580 0.88350
NM_000321.3(RB1):c.1696-277C>T rs198574 0.77217
NM_000321.3(RB1):c.718+312A>T rs198619 0.55756
NM_000321.3(RB1):c.137+107G>A rs2252544 0.55039
NM_000321.3(RB1):c.2106+142del rs377255892 0.26073
NM_000321.3(RB1):c.380+45C>T rs520342 0.21231
NM_000321.3(RB1):c.2106+139T>C rs368843896 0.20964
NM_000321.3(RB1):c.2664-10T>A rs3092904 0.19833
NM_000321.3(RB1):c.381-152A>G rs3092899 0.11650
NM_000321.3(RB1):c.608-3182C>T rs9535021 0.10366
NM_000321.3(RB1):c.1127+74C>T rs3092888 0.07482
NM_000321.3(RB1):c.2106+135_2106+137del rs1566235895 0.06275
NM_000321.3(RB1):c.264+75T>C rs3092865 0.05520
NM_000321.3(RB1):c.1216-230G>T rs4151532 0.05238
NM_000321.3(RB1):c.2106+146del rs370147449 0.05175
NM_000321.3(RB1):c.1390-14A>T rs9535023 0.04866
NM_000321.3(RB1):c.1049+270G>A rs4151502 0.03590
NM_000321.3(RB1):c.540-162T>C rs74075978 0.03583
NM_000321.3(RB1):c.2106+83T>C rs183550522 0.03467
NM_000321.3(RB1):c.608-3377C>T rs113995265 0.03314
NM_000321.3(RB1):c.608-3569T>C rs77089731 0.03313
NM_000321.3(RB1):c.2106+67T>C rs538405205 0.03299
NM_000321.3(RB1):c.500+305G>T rs4151460 0.03256
NM_000321.3(RB1):c.264+283T>C rs4151429 0.03246
NM_000321.3(RB1):c.861+505C>G rs4151487 0.03244
NM_000321.3(RB1):c.1215+220G>A rs4151524 0.03175
NM_000321.3(RB1):c.1815-104A>G rs3092898 0.02847
NM_000321.3(RB1):c.1216-29A>G rs3092886 0.02593
NM_000321.3(RB1):c.2106+116del rs1566235804 0.02107
NM_000321.3(RB1):c.2106+118T>C rs543633222 0.02056
NM_000321.3(RB1):c.861+167A>G rs2097211 0.01797
NM_000321.3(RB1):c.2713+166A>T rs77520761 0.01543
NM_000321.3(RB1):c.2212-16T>A rs201258424 0.01386
NM_000321.3(RB1):c.380+193G>T rs77400127 0.01381
NM_000321.3(RB1):c.264+182T>C rs146247663 0.01319
NM_000321.3(RB1):c.861+247dup rs558755474 0.01319
NM_000321.3(RB1):c.1498+73G>A rs112189207 0.01287
NM_000321.3(RB1):c.264+186T>A rs189562489 0.01277
NM_000321.3(RB1):c.264+187G>A rs181781596 0.01263
NM_000321.3(RB1):c.2490-1323C>T rs55926808 0.01180
NM_000321.3(RB1):c.718+138G>A rs3092869 0.01160
NM_000321.3(RB1):c.264+198T>C rs1342739317 0.01119
NM_000321.3(RB1):c.500+251T>C rs4151458 0.01102
NM_000321.3(RB1):c.719-178T>C rs3092885 0.01102
NM_000321.3(RB1):c.264+200C>G rs1219836019 0.01088
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_000321.3(RB1):c.137+94C>T rs191994935 0.01058
NM_000321.3(RB1):c.501-38G>A rs3092884 0.01032
NM_000321.3(RB1):c.718+35A>T rs3092868 0.01015
NM_000321.3(RB1):c.500+336G>A rs4151461 0.00925
NM_000321.3(RB1):c.500+171A>G rs4151456 0.00923
NM_000321.3(RB1):c.608-3208A>G rs56871512 0.00923
NM_000321.3(RB1):c.1961-156T>C rs4151595 0.00919
NM_000321.3(RB1):c.940-111C>T rs4151501 0.00913
NM_000321.3(RB1):c.*184A>T rs4151630 0.00902
NM_000321.3(RB1):c.2106+53_2106+55del rs562259461 0.00896
NM_000321.3(RB1):c.2212-145T>C rs114464494 0.00896
NM_000321.3(RB1):c.1498+65T>G rs78704248 0.00718
NM_000321.3(RB1):c.939+87T>C rs3092863 0.00717
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly) rs4151539 0.00623
NM_000321.3(RB1):c.500+46A>G rs3092901 0.00606
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_000321.3(RB1):c.1696-154G>A rs77145577 0.00569
NM_000321.3(RB1):c.500+199A>T rs4151457 0.00569
NM_000321.3(RB1):c.2664-182A>G rs2000992 0.00559
NM_000321.3(RB1):c.2490-45A>G rs4151610 0.00540
NM_000321.3(RB1):c.2490-1169G>A rs75052176 0.00406
NM_000321.3(RB1):c.2490-1329C>T rs150635376 0.00400
NM_000321.3(RB1):c.607+146A>G rs180962798 0.00371
NM_000321.3(RB1):c.1695+273T>G rs540672435 0.00369
NM_000321.3(RB1):c.1390-11A>G rs200658795 0.00365
NM_000321.3(RB1):c.1332+327A>G rs189969991 0.00334
NM_000321.3(RB1):c.1632A>G (p.Arg544=) rs143948310 0.00245
NM_000321.3(RB1):c.2212-15A>G rs372815788 0.00212
NM_000321.3(RB1):c.42C>T (p.Ala14=) rs148980395 0.00162
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
NM_000321.3(RB1):c.1129A>T (p.Thr377Ser) rs146897002 0.00080
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_000321.3(RB1):c.1770T>C (p.Cys590=) rs145310579 0.00062
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000321.3(RB1):c.1707A>G (p.Leu569=) rs3092895 0.00052
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000321.3(RB1):c.1390-17T>A rs794727138 0.00017
NM_000321.3(RB1):c.1491A>T (p.Thr497=) rs150115447 0.00015
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys) rs4151534 0.00014
NM_000321.3(RB1):c.2570G>A (p.Arg857His) rs144668210 0.00013
NM_000321.3(RB1):c.2463A>G (p.Thr821=) rs370088029 0.00011
NM_000321.3(RB1):c.1862G>A (p.Arg621His) rs373601944 0.00009
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr) rs148992508 0.00009
NM_000321.3(RB1):c.2464C>G (p.Pro822Ala) rs368413787 0.00008
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394 0.00006
NM_000321.3(RB1):c.2003G>A (p.Arg668His) rs551747882 0.00005
NM_000321.3(RB1):c.1619G>T (p.Gly540Val) rs769696726 0.00004
NM_000321.3(RB1):c.16C>T (p.Pro6Ser) rs886043138 0.00004
NM_000321.3(RB1):c.1814+11T>C rs771369373 0.00004
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp) rs367668687 0.00004
NM_000321.3(RB1):c.462G>A (p.Lys154=) rs369830657 0.00004
NM_000321.3(RB1):c.941T>A (p.Val314Asp) rs780006952 0.00004
NM_000321.3(RB1):c.109A>G (p.Ser37Gly) rs896487590 0.00003
NM_000321.3(RB1):c.2397T>G (p.Ile799Met) rs749392116 0.00003
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys) rs143105337 0.00003
NM_000321.3(RB1):c.-11G>A rs1376823332 0.00002
NM_000321.3(RB1):c.1696-14C>T rs776912915 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000321.3(RB1):c.-149G>T rs1014776340 0.00001
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln) rs767011440 0.00001
NM_000321.3(RB1):c.1163T>G (p.Ile388Ser) rs373623059 0.00001
NM_000321.3(RB1):c.1198C>G (p.Leu400Val) rs535576919 0.00001
NM_000321.3(RB1):c.124C>T (p.Leu42=) rs1312883856 0.00001
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu) rs748635133 0.00001
NM_000321.3(RB1):c.1325G>C (p.Gly442Ala) rs1370947947 0.00001
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) rs121913302 0.00001
NM_000321.3(RB1):c.1976A>G (p.Tyr659Cys) rs751799266 0.00001
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu) rs3092903 0.00001
NM_000321.3(RB1):c.2198A>T (p.His733Leu) rs778503152 0.00001
NM_000321.3(RB1):c.2277C>T (p.Val759=) rs1949430859 0.00001
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.2436A>G (p.Pro812=) rs1276641790 0.00001
NM_000321.3(RB1):c.2636T>C (p.Ile879Thr) rs764140783 0.00001
NM_000321.3(RB1):c.2639A>C (p.Glu880Ala) rs1259535894 0.00001
NM_000321.3(RB1):c.2714-10C>T rs1060504825 0.00001
NM_000321.3(RB1):c.273T>C (p.Tyr91=) rs750136284 0.00001
NM_000321.3(RB1):c.539C>T (p.Ser180Leu) rs367654488 0.00001
NC_000013.11:g.48303704A>G rs1952048465
NM_000321.2(RB1):c.1402_1412dup (p.Gln471Hisfs) rs797044649
NM_000321.2(RB1):c.2084T>G (p.Met695Arg) rs727504122
NM_000321.3(RB1):c.1049+58G>A rs3092883
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1108C>T (p.Pro370Ser) rs1168863456
NM_000321.3(RB1):c.1128-1G>A rs2138130852
NM_000321.3(RB1):c.1128-72G>T rs185587
NM_000321.3(RB1):c.1131T>C (p.Thr377=) rs1414284893
NM_000321.3(RB1):c.1191del (p.Glu398fs) rs727504121
NM_000321.3(RB1):c.1215+1G>T rs587776783
NM_000321.3(RB1):c.1218C>T (p.Asn406=) rs1593453983
NM_000321.3(RB1):c.1265T>C (p.Ile422Thr)
NM_000321.3(RB1):c.1330C>T (p.Gln444Ter)
NM_000321.3(RB1):c.1332+1G>A rs587778846
NM_000321.3(RB1):c.1333-61dup rs11449461
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter) rs1593455621
NM_000321.3(RB1):c.137+86T>C rs2854351
NM_000321.3(RB1):c.138-262G>C rs1981434
NM_000321.3(RB1):c.1389+194del rs3092892
NM_000321.3(RB1):c.1389+5G>C rs1131690859
NM_000321.3(RB1):c.1390-168G>C rs2070752
NM_000321.3(RB1):c.1390-17del rs753535084
NM_000321.3(RB1):c.1390-17dup rs753535084
NM_000321.3(RB1):c.1390-70del rs35427721
NM_000321.3(RB1):c.1390-70dup rs35427721
NM_000321.3(RB1):c.1390-71_1390-70del rs35427721
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.1421+27T>A
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr) rs201458896
NM_000321.3(RB1):c.1470T>A (p.Ala490=)
NM_000321.3(RB1):c.1472T>C (p.Leu491Pro) rs587778848
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn) rs774706300
NM_000321.3(RB1):c.1499-10del rs148580581
NM_000321.3(RB1):c.1499-57del rs11351399
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter) rs886043247
NM_000321.3(RB1):c.1585dup (p.Tyr529fs) rs398123332
NM_000321.3(RB1):c.15C>A (p.Thr5=) rs1593411934
NM_000321.3(RB1):c.1629_1630del (p.Glu545fs) rs1593457070
NM_000321.3(RB1):c.1695+268del rs200594775
NM_000321.3(RB1):c.1695+2T>G rs2138145859
NM_000321.3(RB1):c.1695+74dup rs548436965
NM_000321.3(RB1):c.1695+81_1695+82insAA rs4151540
NM_000321.3(RB1):c.1696-1G>A rs794727199
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1814+2T>A rs1131690899
NM_000321.3(RB1):c.1827T>C (p.Pro609=) rs1593531889
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.3(RB1):c.1891C>T (p.Gln631Ter) rs1217977493
NM_000321.3(RB1):c.1960+5G>A rs587778871
NM_000321.3(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000321.3(RB1):c.1994T>G (p.Leu665Arg) rs483352689
NM_000321.3(RB1):c.19dup (p.Arg7fs) rs1131690852
NM_000321.3(RB1):c.2027T>G (p.Leu676Ter) rs1566235448
NM_000321.3(RB1):c.2043G>A (p.Trp681Ter)
NM_000321.3(RB1):c.2062C>T (p.Leu688=)
NM_000321.3(RB1):c.2067_2079delinsCAC (p.Gln689fs) rs398123333
NM_000321.3(RB1):c.207T>C (p.His69=) rs759594127
NM_000321.3(RB1):c.2106+104_2106+106del rs1566235767
NM_000321.3(RB1):c.2106+108_2106+110del rs1482716468
NM_000321.3(RB1):c.2106+111dup rs66565903
NM_000321.3(RB1):c.2106+119_2106+120insCT rs747042227
NM_000321.3(RB1):c.2106+119_2106+120insCTT rs765008765
NM_000321.3(RB1):c.2106+119_2106+120insCTTTCTT rs765008765
NM_000321.3(RB1):c.2106+120_2106+121del rs66738983
NM_000321.3(RB1):c.2106+121del rs66738983
NM_000321.3(RB1):c.2106+122_2106+149del rs1566235830
NM_000321.3(RB1):c.2106+129dup rs374033062
NM_000321.3(RB1):c.2106+146_2106+147del rs375084275
NM_000321.3(RB1):c.2106+146_2106+147insCTTTTT rs10627069
NM_000321.3(RB1):c.2106+68_2106+70del rs1379075407
NM_000321.3(RB1):c.2106+96_2106+147del rs1566235744
NM_000321.3(RB1):c.2106+96_2106+98del rs1566235741
NM_000321.3(RB1):c.2211+1G>T rs1949420231
NM_000321.3(RB1):c.2211+2T>C rs2138342748
NM_000321.3(RB1):c.2211+3A>G rs2138342752
NM_000321.3(RB1):c.2211+5G>T rs1593538236
NM_000321.3(RB1):c.2212-12G>T rs776987458
NM_000321.3(RB1):c.2212-14C>T rs80122842
NM_000321.3(RB1):c.2212-15A>T rs372815788
NM_000321.3(RB1):c.2212-15_2212-12del rs752717404
NM_000321.3(RB1):c.2212-15_2212-14del rs756296581
NM_000321.3(RB1):c.2232C>A (p.Ile744=)
NM_000321.3(RB1):c.2239GAG[1] (p.Glu748del) rs2138344648
NM_000321.3(RB1):c.2255T>C (p.Ile752Thr)
NM_000321.3(RB1):c.2310G>A (p.Gln770=) rs777040395
NM_000321.3(RB1):c.2325+1G>A rs1131690882
NM_000321.3(RB1):c.2325+5G>A rs886042249
NM_000321.3(RB1):c.2326-1del
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.2370C>A (p.Tyr790Ter) rs794727372
NM_000321.3(RB1):c.2406G>A (p.Gly802=) rs866638680
NM_000321.3(RB1):c.240A>T (p.Lys80Asn)
NM_000321.3(RB1):c.2420C>G (p.Ser807Ter) rs2138345919
NM_000321.3(RB1):c.2455C>T (p.Leu819=) rs375751988
NM_000321.3(RB1):c.2460A>G (p.Pro820=) rs1555294628
NM_000321.3(RB1):c.2488_2489+7del rs1555294634
NM_000321.3(RB1):c.2489+1G>A rs764754259
NM_000321.3(RB1):c.2489+1G>C rs764754259
NM_000321.3(RB1):c.2489+214G>T rs4151602
NM_000321.3(RB1):c.2489+249G>T rs4151603
NM_000321.3(RB1):c.2490-1398A>G rs587776791
NM_000321.3(RB1):c.2504T>C (p.Ile835Thr)
NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer) rs1566240909
NM_000321.3(RB1):c.2533T>C (p.Phe845Leu) rs754183765
NM_000321.3(RB1):c.2548C>T (p.Gln850Ter) rs886042935
NM_000321.3(RB1):c.2569C>T (p.Arg857Cys)
NM_000321.3(RB1):c.264+310dup rs11452683
NM_000321.3(RB1):c.265-244_265-237del rs146556286
NM_000321.3(RB1):c.265-9551T>A
NM_000321.3(RB1):c.265-9576C>T
NM_000321.3(RB1):c.2663+2T>C rs587778839
NM_000321.3(RB1):c.277C>T (p.Gln93Ter) rs1131690915
NM_000321.3(RB1):c.287del (p.Lys96fs) rs2138083574
NM_000321.3(RB1):c.297G>A (p.Trp99Ter) rs794727481
NM_000321.3(RB1):c.333T>C (p.Asp111=)
NM_000321.3(RB1):c.335_339del (p.Glu112fs) rs1064795438
NM_000321.3(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.3(RB1):c.376del (p.Ile126fs) rs886042357
NM_000321.3(RB1):c.380G>A (p.Ser127Asn) rs1131690843
NM_000321.3(RB1):c.381-1G>A rs1566186836
NM_000321.3(RB1):c.396del (p.Phe132fs) rs886043313
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.3(RB1):c.45_79del (p.Ala16fs) rs2138027212
NM_000321.3(RB1):c.474G>C (p.Leu158Phe) rs1319691084
NM_000321.3(RB1):c.501-2A>G
NM_000321.3(RB1):c.540-23dup
NM_000321.3(RB1):c.540-265dup rs58957756
NM_000321.3(RB1):c.54_79del (p.Glu19fs) rs727504120
NM_000321.3(RB1):c.570G>A (p.Val190=) rs775061547
NM_000321.3(RB1):c.607+1G>A rs587776789
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000321.3(RB1):c.608-144del rs547128110
NM_000321.3(RB1):c.608-144dup rs547128110
NM_000321.3(RB1):c.608-4del rs762805947
NM_000321.3(RB1):c.658C>G (p.Leu220Val) rs367960214
NM_000321.3(RB1):c.719-315del rs148037416
NM_000321.3(RB1):c.72G>C (p.Pro24=) rs1333596916
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.772_776del (p.Asn258fs) rs1566192530
NM_000321.3(RB1):c.83C>T (p.Pro28Leu) rs776175164
NM_000321.3(RB1):c.859G>T (p.Glu287Ter) rs1593445246
NM_000321.3(RB1):c.861+1G>T rs2138112893
NM_000321.3(RB1):c.861+262del rs11332935
NM_000321.3(RB1):c.861+262dup rs11332935
NM_000321.3(RB1):c.861+2del rs1064795296
NM_000321.3(RB1):c.862-127del rs144536235
NM_000321.3(RB1):c.884A>G (p.Asn295Ser) rs2138116381
NM_000321.3(RB1):c.889del (p.Ile297fs) rs1555285133
NM_000321.3(RB1):c.914T>C (p.Leu305Pro)
NM_000321.3(RB1):c.940-21C>A rs559042622
NM_000321.3(RB1):c.94G>A (p.Asp32Asn) rs1593412219
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300

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