ClinVar Miner

List of variants reported as pathogenic for Retinoblastoma by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 371
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) rs121913302 0.00001
NM_000321.3(RB1):c.2536C>T (p.Gln846Ter) rs1231557654 0.00001
NC_000013.10:g.(?_48611883)_(48878195_?)del
NC_000013.10:g.(?_48611883)_(48939117_?)del
NC_000013.10:g.(?_48877837)_(48881552_?)del
NC_000013.10:g.(?_48877851)_(49054207_?)del
NC_000013.10:g.(?_48878039)_(48919345_?)del
NC_000013.10:g.(?_48881406)_(48955589_?)dup
NC_000013.10:g.(?_48916725)_(48922009_?)del
NC_000013.10:g.(?_48916729)_(48942746_?)dup
NC_000013.10:g.(?_48919196)_(48955599_?)del
NC_000013.10:g.(?_48919206)_(48923169_?)del
NC_000013.10:g.(?_48937921)_(48942750_?)del
NC_000013.10:g.(?_48947531)_(48947691_?)del
NC_000013.10:g.(?_48947531)_(48955589_?)del
NC_000013.10:g.(?_48951044)_(48955589_?)del
NC_000013.10:g.(?_48953730)_(48954377_?)del
NC_000013.10:g.(?_48954189)_(48954377_?)del
NC_000013.10:g.(?_48985727)_(49039514_?)dup
NC_000013.10:g.(?_49027115)_(49054207_?)del
NC_000013.10:g.(?_49039232)_(49040694_?)del
NC_000013.10:g.(?_49046098)_(49047536_?)del
NC_000013.10:g.(?_49046098)_(49054207_?)del
NC_000013.11:g.(?_48037747)_(48480071_?)del
NC_000013.11:g.(?_48040910)_(48480071_?)del
NC_000013.11:g.(?_48302747)_(48482890_?)del
NC_000013.11:g.(?_48303701)_(48304059_?)del
NC_000013.11:g.(?_48303701)_(48412896_?)del
NC_000013.11:g.(?_48303701)_(48480071_?)del
NC_000013.11:g.(?_48303903)_(48307416_?)del
NC_000013.11:g.(?_48303903)_(48480081_?)del
NC_000013.11:g.(?_48303907)_(48480077_?)del
NC_000013.11:g.(?_48307270)_(48349033_?)del
NC_000013.11:g.(?_48307274)_(48349029_?)del
NC_000013.11:g.(?_48342589)_(48345209_?)del
NC_000013.11:g.(?_48342589)_(48368614_?)del
NC_000013.11:g.(?_48342599)_(48345199_?)del
NC_000013.11:g.(?_48345070)_(48345209_?)del
NC_000013.11:g.(?_48345074)_(48345205_?)del
NC_000013.11:g.(?_48360007)_(48368614_?)del
NC_000013.11:g.(?_48376908)_(48380094_?)del
NC_000013.11:g.(?_48379574)_(48480071_?)del
NC_000013.11:g.(?_48452983)_(48480081_?)del
NC_000013.11:g.(?_48459678)_(48459843_?)del
NC_000013.11:g.(?_48464992)_(48465374_?)del
NC_000013.11:g.(?_48476691)_(48477414_?)del
NC_000013.11:g.48360019del
NC_000013.11:g.48464999_48465023del rs2138344503
NM_000321.2(RB1):c.-198G>A rs387906521
NM_000321.2(RB1):c.2450_2453delinsTTT (p.Glu817fs) rs1555294626
NM_000321.3(RB1):c.1005del (p.Leu335fs)
NM_000321.3(RB1):c.100G>T (p.Glu34Ter) rs2138027798
NM_000321.3(RB1):c.103C>T (p.Gln35Ter) rs587778869
NM_000321.3(RB1):c.1049+1G>A rs587776782
NM_000321.3(RB1):c.1049+2T>A rs41287453
NM_000321.3(RB1):c.1049+3A>G rs1566194415
NM_000321.3(RB1):c.1053del (p.Phe351fs) rs1952726441
NM_000321.3(RB1):c.1054del (p.Glu352fs) rs1952726482
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs) rs587778829
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.109dup (p.Ser37fs)
NM_000321.3(RB1):c.110_122del (p.Ser37fs)
NM_000321.3(RB1):c.1128-1G>A rs2138130852
NM_000321.3(RB1):c.1128-2A>T
NM_000321.3(RB1):c.1131del (p.Val378fs)
NM_000321.3(RB1):c.1154T>G (p.Leu385Ter) rs878853947
NM_000321.3(RB1):c.1166dup (p.Leu389fs) rs2138131106
NM_000321.3(RB1):c.1183C>T (p.Gln395Ter) rs1566196458
NM_000321.3(RB1):c.118G>T (p.Glu40Ter) rs1593412262
NM_000321.3(RB1):c.1190C>A (p.Ser397Ter)
NM_000321.3(RB1):c.1191del (p.Glu398fs) rs727504121
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1215+2T>A
NM_000321.3(RB1):c.1215+2T>G rs1060503074
NM_000321.3(RB1):c.1216-1G>A rs587778831
NM_000321.3(RB1):c.1237G>T (p.Glu413Ter) rs2138136261
NM_000321.3(RB1):c.1239_1240del (p.Ser414fs) rs1555286220
NM_000321.3(RB1):c.1247del (p.Leu416fs) rs2138136325
NM_000321.3(RB1):c.1257del (p.Lys420fs) rs1952831606
NM_000321.3(RB1):c.1275_1279dup (p.Lys427fs) rs1952831740
NM_000321.3(RB1):c.1278_1279insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGGGCCGGCGGAAGAAGGCGGTGGCGGGGCCCTGCCCCGCTCCGGCTGTGGCGCGGCCCGCGCCCGTTCCAGGATACATCTTT (p.Lys427delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaAlaGlyProAlaGluGluGlyGlyGlyGlyAlaLeuProArgSerGlyCysGlyAlaAlaArgAlaArgSerArgIleHisLeuTer)
NM_000321.3(RB1):c.1278dup (p.Lys427Ter) rs1555286236
NM_000321.3(RB1):c.1281del (p.Glu428fs) rs2138136497
NM_000321.3(RB1):c.131_132del (p.Leu44fs)
NM_000321.3(RB1):c.1328C>A (p.Ser443Ter) rs1060503079
NM_000321.3(RB1):c.1331_1332dup (p.Arg445fs) rs1593454115
NM_000321.3(RB1):c.1332+1G>A rs587778846
NM_000321.3(RB1):c.1332G>A (p.Gln444=) rs1555286250
NM_000321.3(RB1):c.1332G>C (p.Gln444His) rs1555286250
NM_000321.3(RB1):c.1333-1G>A rs2138140730
NM_000321.3(RB1):c.1333-1G>C rs2138140730
NM_000321.3(RB1):c.1333-2A>G rs1555286503
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1339A>T (p.Lys447Ter)
NM_000321.3(RB1):c.1341del (p.Lys447fs)
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.3(RB1):c.1346G>A (p.Gly449Glu)
NM_000321.3(RB1):c.1346dup (p.Val450fs) rs1948513922
NM_000321.3(RB1):c.1355T>A (p.Leu452Ter)
NM_000321.3(RB1):c.1355dup (p.Leu452fs)
NM_000321.3(RB1):c.1360del (p.Tyr454fs) rs2138140923
NM_000321.3(RB1):c.136del (p.Arg46fs)
NM_000321.3(RB1):c.137+1G>A rs1131690855
NM_000321.3(RB1):c.137+2T>G
NM_000321.3(RB1):c.1372G>T (p.Glu458Ter) rs1131690884
NM_000321.3(RB1):c.138-1G>A rs1593414337
NM_000321.3(RB1):c.138-2A>G
NM_000321.3(RB1):c.1389+1G>C rs1060503087
NM_000321.3(RB1):c.1389+1G>T rs1060503087
NM_000321.3(RB1):c.1389+2T>A
NM_000321.3(RB1):c.1390-14A>G rs9535023
NM_000321.3(RB1):c.1390-2A>C rs1555286568
NM_000321.3(RB1):c.1390-2A>G rs1555286568
NM_000321.3(RB1):c.1392del (p.Glu465fs) rs1948519774
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.1419del (p.Phe473fs) rs1555286573
NM_000321.3(RB1):c.1421+12_1456del rs2138142421
NM_000321.3(RB1):c.1421+1G>C rs1131690886
NM_000321.3(RB1):c.1421_1421+9delinsCTTTTAGTAAAAAATTTACTTTTAGTAAAATTTTACTTTTAGTAAAATTTTAGTAAAAATTTACTTTTAGTAAAAAA
NM_000321.3(RB1):c.1422-1G>A rs1461382798
NM_000321.3(RB1):c.1422-2A>G rs1395304450
NM_000321.3(RB1):c.1423A>T (p.Lys475Ter)
NM_000321.3(RB1):c.142G>T (p.Glu48Ter)
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del) rs587776788
NM_000321.3(RB1):c.1445_1446del (p.Phe482fs) rs1566199059
NM_000321.3(RB1):c.1450_1451del (p.Met484fs) rs1948522792
NM_000321.3(RB1):c.1454_1457del (p.Ser485fs) rs1948522929
NM_000321.3(RB1):c.1458del (p.Leu486fs) rs1555286611
NM_000321.3(RB1):c.1493_1498+86del rs2138143170
NM_000321.3(RB1):c.1494T>G (p.Tyr498Ter) rs768929728
NM_000321.3(RB1):c.1498+5G>A rs1566199125
NM_000321.3(RB1):c.1499-1G>T
NM_000321.3(RB1):c.1499-2A>C rs1258442224
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter) rs886043247
NM_000321.3(RB1):c.1512_1513del (p.Asn505fs) rs1593456963
NM_000321.3(RB1):c.1519_1523dup (p.Gly509fs) rs2138144919
NM_000321.3(RB1):c.1524del (p.Gly509fs)
NM_000321.3(RB1):c.1532dup (p.Asp511fs) rs2138144988
NM_000321.3(RB1):c.1554_1561del (p.Leu518_Asn519insTer)
NM_000321.3(RB1):c.1567_1568dup (p.Leu523fs) rs1948533760
NM_000321.3(RB1):c.1568T>G (p.Leu523Ter)
NM_000321.3(RB1):c.1572del (p.Ala525fs) rs2138145163
NM_000321.3(RB1):c.1572dup (p.Ala525fs)
NM_000321.3(RB1):c.157_158del (p.Glu53fs)
NM_000321.3(RB1):c.1584_1585insCACTT (p.Tyr529fs) rs1948533963
NM_000321.3(RB1):c.1587C>A (p.Tyr529Ter)
NM_000321.3(RB1):c.1597G>T (p.Glu533Ter) rs1237070816
NM_000321.3(RB1):c.1625T>A (p.Leu542Ter) rs1593457065
NM_000321.3(RB1):c.1629_1630del (p.Glu545fs) rs1593457070
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter) rs1948534542
NM_000321.3(RB1):c.1633_1640del (p.Glu545fs) rs1555286695
NM_000321.3(RB1):c.1635_1636del (p.Glu545fs)
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.1659T>A (p.Cys553Ter) rs1593457108
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.3(RB1):c.1673_1674dup (p.Glu559fs) rs1555286707
NM_000321.3(RB1):c.1675del (p.Glu559fs) rs2138145739
NM_000321.3(RB1):c.1686dup (p.Trp563fs) rs1593457156
NM_000321.3(RB1):c.1695+1G>T
NM_000321.3(RB1):c.1695+2T>G rs2138145859
NM_000321.3(RB1):c.1696-12T>G rs1060503088
NM_000321.3(RB1):c.1696-1G>A rs794727199
NM_000321.3(RB1):c.1700C>G (p.Ser567Ter)
NM_000321.3(RB1):c.1723C>T (p.Gln575Ter) rs587778864
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1743dup (p.Pro582fs) rs2138327123
NM_000321.3(RB1):c.1778dup (p.Asn593fs)
NM_000321.3(RB1):c.1789C>T (p.Gln597Ter) rs1566233076
NM_000321.3(RB1):c.179T>G (p.Leu60Ter)
NM_000321.3(RB1):c.1814+3A>C rs376886420
NM_000321.3(RB1):c.184C>T (p.Gln62Ter) rs2138034088
NM_000321.3(RB1):c.1887_1888del (p.Glu629fs) rs2138331297
NM_000321.3(RB1):c.1890_1893del (p.Ala632fs) rs2138331328
NM_000321.3(RB1):c.1891C>T (p.Gln631Ter) rs1217977493
NM_000321.3(RB1):c.1891_1892del (p.Gln631fs)
NM_000321.3(RB1):c.1915C>T (p.Gln639Ter) rs1949359779
NM_000321.3(RB1):c.191T>G (p.Leu64Ter) rs2138034131
NM_000321.3(RB1):c.1928_1929dup (p.Ser644fs)
NM_000321.3(RB1):c.1937_1940del (p.Ser646fs) rs2138331562
NM_000321.3(RB1):c.1940_1943del (p.Leu647fs) rs2138331576
NM_000321.3(RB1):c.1943C>G (p.Ser648Ter)
NM_000321.3(RB1):c.1950_1953del (p.Phe650fs) rs1593532084
NM_000321.3(RB1):c.1959del (p.Val654fs)
NM_000321.3(RB1):c.1959dup (p.Val654fs) rs1566234123
NM_000321.3(RB1):c.1960+1G>C rs1949360306
NM_000321.3(RB1):c.1960+1G>T rs1949360306
NM_000321.3(RB1):c.1960+2T>A
NM_000321.3(RB1):c.1960+2T>G rs587776780
NM_000321.3(RB1):c.1960+5G>C rs587778871
NM_000321.3(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000321.3(RB1):c.1960G>C (p.Val654Leu) rs483352690
NM_000321.3(RB1):c.1960_1960+1insC rs1593532101
NM_000321.3(RB1):c.1961-17_1965del
NM_000321.3(RB1):c.1961-1G>T rs1949383286
NM_000321.3(RB1):c.1961-293_1987del
NM_000321.3(RB1):c.1961-2A>G
NM_000321.3(RB1):c.1978_1996del (p.Leu660fs) rs1593534586
NM_000321.3(RB1):c.19del (p.Arg7fs) rs1131690852
NM_000321.3(RB1):c.19dup (p.Arg7fs) rs1131690852
NM_000321.3(RB1):c.2013dup (p.Glu672Ter) rs2138336089
NM_000321.3(RB1):c.2027T>A (p.Leu676Ter) rs1566235448
NM_000321.3(RB1):c.2027T>G (p.Leu676Ter) rs1566235448
NM_000321.3(RB1):c.2029G>T (p.Glu677Ter) rs1060503067
NM_000321.3(RB1):c.2042G>A (p.Trp681Ter)
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter) rs878853949
NM_000321.3(RB1):c.2059_2066dup (p.Asn690fs)
NM_000321.3(RB1):c.2065C>T (p.Gln689Ter) rs1566235470
NM_000321.3(RB1):c.2099dup (p.Leu700fs)
NM_000321.3(RB1):c.2106+1G>A rs1949385207
NM_000321.3(RB1):c.2106+1G>C rs1949385207
NM_000321.3(RB1):c.2106+2T>A rs1566235515
NM_000321.3(RB1):c.2106+2T>C rs1566235515
NM_000321.3(RB1):c.2107-2A>G rs1593538130
NM_000321.3(RB1):c.2117G>A (p.Cys706Tyr)
NM_000321.3(RB1):c.2131dup (p.Ile711fs) rs1593538155
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2138_2139del (p.Lys713fs)
NM_000321.3(RB1):c.2152del (p.Asp718fs)
NM_000321.3(RB1):c.2160_2167delinsC (p.Lys720fs) rs1593538175
NM_000321.3(RB1):c.2172dup (p.Val725fs) rs1566237098
NM_000321.3(RB1):c.2173_2174dup (p.Val725_Thr726insTer) rs2138342499
NM_000321.3(RB1):c.217_220del (p.Arg73fs)
NM_000321.3(RB1):c.2188_2189insTT (p.Asp730fs)
NM_000321.3(RB1):c.2194_2197del (p.Pro732fs) rs1060503075
NM_000321.3(RB1):c.219_220del (p.Arg73fs) rs587778862
NM_000321.3(RB1):c.21_22insT (p.Lys8Ter)
NM_000321.3(RB1):c.2206C>T (p.Gln736Ter) rs1593538220
NM_000321.3(RB1):c.220del (p.Ala74fs)
NM_000321.3(RB1):c.2211+1G>A rs1949420231
NM_000321.3(RB1):c.2211+1G>T rs1949420231
NM_000321.3(RB1):c.2211+2T>C rs2138342748
NM_000321.3(RB1):c.2211+5G>A rs1593538236
NM_000321.3(RB1):c.2211G>T (p.Glu737Asp) rs587776787
NM_000321.3(RB1):c.2212-14C>G
NM_000321.3(RB1):c.2212-1G>C rs587776786
NM_000321.3(RB1):c.2236G>T (p.Glu746Ter) rs958914211
NM_000321.3(RB1):c.2238del (p.Glu747fs) rs1949430414
NM_000321.3(RB1):c.2247_2248insAA (p.Asp750fs) rs1555294600
NM_000321.3(RB1):c.2280del (p.Phe760fs) rs2138344869
NM_000321.3(RB1):c.2284C>T (p.Gln762Ter) rs1593539225
NM_000321.3(RB1):c.229_232del (p.Thr77fs) rs2138034389
NM_000321.3(RB1):c.2308C>T (p.Gln770Ter) rs2138344987
NM_000321.3(RB1):c.2325+1G>A rs1131690882
NM_000321.3(RB1):c.2325+1G>C rs1131690882
NM_000321.3(RB1):c.2326-1G>A
NM_000321.3(RB1):c.2326-2A>G rs1949432057
NM_000321.3(RB1):c.2339C>G (p.Ser780Ter) rs1593539366
NM_000321.3(RB1):c.234G>A (p.Trp78Ter) rs2138034427
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.2384_2390del (p.Ser795fs) rs2138345718
NM_000321.3(RB1):c.2388del (p.Leu797fs) rs869264218
NM_000321.3(RB1):c.2401G>T (p.Gly801Ter)
NM_000321.3(RB1):c.2405_2414del (p.Gly802fs) rs1593539435
NM_000321.3(RB1):c.2408del (p.Asn803fs) rs1949433098
NM_000321.3(RB1):c.240del (p.Val81fs)
NM_000321.3(RB1):c.2420C>G (p.Ser807Ter) rs2138345919
NM_000321.3(RB1):c.2428A>T (p.Lys810Ter) rs1949433250
NM_000321.3(RB1):c.2435del (p.Pro812fs) rs1949433358
NM_000321.3(RB1):c.2447C>G (p.Ser816Ter)
NM_000321.3(RB1):c.245C>A (p.Ser82Ter) rs755704180
NM_000321.3(RB1):c.245C>G (p.Ser82Ter)
NM_000321.3(RB1):c.2473dup (p.Met825fs) rs1593539538
NM_000321.3(RB1):c.2489+1G>A rs764754259
NM_000321.3(RB1):c.2489+2T>C rs1555294636
NM_000321.3(RB1):c.2490-1_2490del rs1593544647
NM_000321.3(RB1):c.24_61del (p.Lys8fs)
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter) rs1131690906
NM_000321.3(RB1):c.2513C>G (p.Ser838Ter) rs1131690908
NM_000321.3(RB1):c.2520+1G>A rs587778850
NM_000321.3(RB1):c.2520+1G>T rs587778850
NM_000321.3(RB1):c.2520+3_2520+6del rs1131690858
NM_000321.3(RB1):c.2520+5G>A rs1131690881
NM_000321.3(RB1):c.2520+5G>C rs1131690881
NM_000321.3(RB1):c.2520+5G>T rs1131690881
NM_000321.3(RB1):c.2593G>T (p.Gly865Ter) rs1949506548
NM_000321.3(RB1):c.264+1G>A rs1131690907
NM_000321.3(RB1):c.264+1G>C
NM_000321.3(RB1):c.264+1G>T rs1131690907
NM_000321.3(RB1):c.2663+1G>T rs2138359672
NM_000321.3(RB1):c.2663G>A (p.Ser888Asn) rs1555295354
NM_000321.3(RB1):c.272_276del (p.Tyr91fs) rs1593434175
NM_000321.3(RB1):c.283A>T (p.Lys95Ter) rs1555282775
NM_000321.3(RB1):c.287dup (p.Glu97fs)
NM_000321.3(RB1):c.295_296dup (p.Trp99fs) rs1952455844
NM_000321.3(RB1):c.297G>A (p.Trp99Ter) rs794727481
NM_000321.3(RB1):c.297_298insA (p.Gly100fs) rs1566186087
NM_000321.3(RB1):c.305_306del (p.Cys102fs) rs587778825
NM_000321.3(RB1):c.306dup (p.Ile103fs)
NM_000321.3(RB1):c.309_312del (p.Phe104fs) rs1952456105
NM_000321.3(RB1):c.32_63del (p.Ala11fs) rs1593411974
NM_000321.3(RB1):c.34_71del (p.Thr12fs) rs2138027150
NM_000321.3(RB1):c.36del (p.Ala13fs) rs1566174065
NM_000321.3(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.3(RB1):c.376del (p.Ile126fs) rs886042357
NM_000321.3(RB1):c.377del (p.Ile126fs) rs2138084130
NM_000321.3(RB1):c.37_65del (p.Ala13fs) rs1064792974
NM_000321.3(RB1):c.380+1G>A rs1131690902
NM_000321.3(RB1):c.380+2T>G
NM_000321.3(RB1):c.380+3A>T rs1555282811
NM_000321.3(RB1):c.381-2A>G rs1952480014
NM_000321.3(RB1):c.388A>T (p.Lys130Ter) rs1566186840
NM_000321.3(RB1):c.390del (p.Lys130fs) rs2138087163
NM_000321.3(RB1):c.399del (p.Leu134fs) rs2138087235
NM_000321.3(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.3(RB1):c.417del (p.Asp139fs) rs2138087348
NM_000321.3(RB1):c.428_437del (p.Lys143fs)
NM_000321.3(RB1):c.43_80del (p.Ala15fs) rs2138027218
NM_000321.3(RB1):c.459del (p.Lys154fs) rs2138087628
NM_000321.3(RB1):c.45_70dup (p.Pro24fs) rs1566174074
NM_000321.3(RB1):c.45_76del (p.Ala17fs) rs1593412002
NM_000321.3(RB1):c.45_79del (p.Ala16fs) rs2138027212
NM_000321.3(RB1):c.465_468dup (p.Val157Ter) rs1566186889
NM_000321.3(RB1):c.46_61GCC[2]GCGGAACCCCAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC[1] (p.Pro21fs) rs2138027345
NM_000321.3(RB1):c.49_80dup (p.Pro29fs)
NM_000321.3(RB1):c.500+1G>T rs1131690880
NM_000321.3(RB1):c.500+2T>C rs2138087877
NM_000321.3(RB1):c.506dup (p.Cys169fs) rs2138091538
NM_000321.3(RB1):c.510del (p.Glu170fs) rs1555283482
NM_000321.3(RB1):c.517_518insTCGAT (p.Tyr173fs)
NM_000321.3(RB1):c.526_532del (p.Gln176fs) rs1952511865
NM_000321.3(RB1):c.540-1G>A
NM_000321.3(RB1):c.542dup (p.Ser182fs)
NM_000321.3(RB1):c.54_73dup (p.Pro25fs) rs1555279212
NM_000321.3(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.3(RB1):c.566T>A (p.Leu189Ter) rs2138093555
NM_000321.3(RB1):c.596T>A (p.Leu199Ter) rs121913298
NM_000321.3(RB1):c.596del (p.Leu199fs) rs2138093700
NM_000321.3(RB1):c.597del (p.Leu199fs) rs2138093727
NM_000321.3(RB1):c.59_71del (p.Pro20fs) rs1952053203
NM_000321.3(RB1):c.606del (p.Glu204fs) rs1593438023
NM_000321.3(RB1):c.607+1G>A rs587776789
NM_000321.3(RB1):c.607+1G>C rs587776789
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000321.3(RB1):c.607+2dup rs1131690895
NM_000321.3(RB1):c.610G>T (p.Glu204Ter) rs1340261233
NM_000321.3(RB1):c.62dup (p.Ala22fs) rs1469887040
NM_000321.3(RB1):c.644C>A (p.Ser215Ter) rs768305224
NM_000321.3(RB1):c.644C>G (p.Ser215Ter)
NM_000321.3(RB1):c.686_689dup (p.Pro231fs)
NM_000321.3(RB1):c.689C>G (p.Ser230Ter)
NM_000321.3(RB1):c.709G>T (p.Glu237Ter) rs1131690904
NM_000321.3(RB1):c.726dup (p.Val243fs) rs1593445096
NM_000321.3(RB1):c.751C>T (p.Arg251Ter) rs1131690863
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.771_772del (p.Asn258fs)
NM_000321.3(RB1):c.772_776del (p.Asn258fs) rs1566192530
NM_000321.3(RB1):c.787del (p.Arg262_Ile263insTer) rs2138112461
NM_000321.3(RB1):c.796C>T (p.Gln266Ter)
NM_000321.3(RB1):c.800del (p.Leu267fs) rs1566192557
NM_000321.3(RB1):c.83del (p.Pro28fs) rs1276653645
NM_000321.3(RB1):c.849_856del (p.Cys283_Asp286delinsTer) rs1593445220
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.3(RB1):c.859G>T (p.Glu287Ter) rs1593445246
NM_000321.3(RB1):c.861+1G>A
NM_000321.3(RB1):c.861G>A (p.Glu287=) rs1555284956
NM_000321.3(RB1):c.861G>C (p.Glu287Asp) rs1555284956
NM_000321.3(RB1):c.862-1G>C rs2138116265
NM_000321.3(RB1):c.862-2A>G
NM_000321.3(RB1):c.869del (p.Asn290fs) rs1131690901
NM_000321.3(RB1):c.939+1G>C rs2138116708
NM_000321.3(RB1):c.939+2T>C rs1952680837
NM_000321.3(RB1):c.940-1G>A rs1131690860
NM_000321.3(RB1):c.940-1G>T rs1131690860
NM_000321.3(RB1):c.951_954del (p.Ser318fs) rs1566194323
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000321.3(RB1):c.963C>G (p.Tyr321Ter) rs377235036
NM_000321.3(RB1):c.967G>T (p.Glu323Ter) rs1060503077
NM_000321.3(RB1):c.983del (p.Asn328fs) rs2138121175
NM_000321.3(RB1):c.983dup (p.Asn328fs) rs2138121175
NM_000321.3(RB1):c.98dup (p.Glu34fs) rs1952054473

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