ClinVar Miner

List of variants in gene RB1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP
NM_000321.2(RB1):c.-198G>A rs387906521
NM_000321.2(RB1):c.1024del (p.Thr342fs) rs587778844
NM_000321.2(RB1):c.1027del (p.Leu343fs) rs1131690873
NM_000321.2(RB1):c.1049+1G>A rs587776782
NM_000321.2(RB1):c.1058_1059CA[1] (p.Gln354fs) rs587778829
NM_000321.2(RB1):c.1062_1063GA[1] (p.Arg355fs) rs1131690861
NM_000321.2(RB1):c.106del (p.Asp36fs) rs1131690913
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1072_1074delinsGG (p.Arg358fs) rs1131690872
NM_000321.2(RB1):c.1128-2A>G rs1131690892
NM_000321.2(RB1):c.1129A>T (p.Thr377Ser) rs146897002
NM_000321.2(RB1):c.113G>A (p.Gly38Asp) rs766529534
NM_000321.2(RB1):c.1140C>T (p.Asn380=) rs117865557
NM_000321.2(RB1):c.1147C>T (p.Gln383Ter) rs1131690846
NM_000321.2(RB1):c.1156A>G (p.Met386Val) rs564780653
NM_000321.2(RB1):c.1180G>A (p.Asp394Asn) rs753350745
NM_000321.2(RB1):c.1215+1G>A rs587776783
NM_000321.2(RB1):c.1229del (p.Asn410fs) rs1131690897
NM_000321.2(RB1):c.1251_1252del (p.Arg418fs) rs1131690889
NM_000321.2(RB1):c.128C>G (p.Pro43Arg) rs1555279239
NM_000321.2(RB1):c.1306C>A (p.Gln436Lys) rs4151534
NM_000321.2(RB1):c.1318G>A (p.Glu440Lys) rs1060503078
NM_000321.2(RB1):c.1321dup (p.Ile441fs) rs1131690875
NM_000321.2(RB1):c.1328C>A (p.Ser443Ter) rs1060503079
NM_000321.2(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.2(RB1):c.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.1364G>C (p.Arg455Pro) rs769425649
NM_000321.2(RB1):c.137+1G>T rs1131690855
NM_000321.2(RB1):c.1372G>T (p.Glu458Ter) rs1131690884
NM_000321.2(RB1):c.1389+4A>C rs1131690879
NM_000321.2(RB1):c.1389+5G>A rs1131690859
NM_000321.2(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.2(RB1):c.1410T>C (p.Ile470=) rs578226820
NM_000321.2(RB1):c.1421+1G>C rs1131690886
NM_000321.2(RB1):c.1421+1delG rs1555286576
NM_000321.2(RB1):c.1436_1438ACA[1] (p.Asn480del) rs587776788
NM_000321.2(RB1):c.1447del (p.His483fs) rs1131690910
NM_000321.2(RB1):c.1464G>A (p.Ala488=) rs753520981
NM_000321.2(RB1):c.1466G>A (p.Cys489Tyr) rs1131690877
NM_000321.2(RB1):c.1474G>A (p.Glu492Lys) rs1060503084
NM_000321.2(RB1):c.1498+1G>A rs1131690909
NM_000321.2(RB1):c.1502_1514del13 rs1131690856
NM_000321.2(RB1):c.1574C>A (p.Ala525Asp) rs4151539
NM_000321.2(RB1):c.1574C>G (p.Ala525Gly) rs4151539
NM_000321.2(RB1):c.1575del (p.Phe526fs) rs1131690876
NM_000321.2(RB1):c.1596C>T (p.Ile532=) rs770728170
NM_000321.2(RB1):c.1617A>C (p.Glu539Asp) rs371031574
NM_000321.2(RB1):c.1632A>G (p.Arg544=) rs143948310
NM_000321.2(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.2(RB1):c.1675G>C (p.Glu559Gln) rs1131690869
NM_000321.2(RB1):c.1695+3A>C rs1131690870
NM_000321.2(RB1):c.1706del (p.Leu569fs) rs1131690842
NM_000321.2(RB1):c.1707A>G (p.Leu569=) rs3092895
NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.2(RB1):c.1770T>C (p.Cys590=) rs145310579
NM_000321.2(RB1):c.1800C>T (p.His600=) rs1555293650
NM_000321.2(RB1):c.1811del (p.Asp604fs) rs1131690893
NM_000321.2(RB1):c.1814+2T>G rs1131690899
NM_000321.2(RB1):c.1814+4A>G rs1131690898
NM_000321.2(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.2(RB1):c.1861C>T (p.Arg621Cys) rs367578442
NM_000321.2(RB1):c.1960+5G>C rs587778871
NM_000321.2(RB1):c.1966C>T (p.Arg656Trp) rs142509759
NM_000321.2(RB1):c.1981C>T (p.Arg661Trp) rs137853294
NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs) rs1131690845
NM_000321.2(RB1):c.19dup (p.Arg7fs) rs1131690852
NM_000321.2(RB1):c.2007_2010TCTG[1] (p.Glu672fs) rs1131690885
NM_000321.2(RB1):c.2014G>T (p.Glu672Ter) rs1131690903
NM_000321.2(RB1):c.2053C>T (p.Gln685Ter) rs878853949
NM_000321.2(RB1):c.2055del (p.Gln685fs) rs1131690844
NM_000321.2(RB1):c.207T>C (p.His69=) rs759594127
NM_000321.2(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.2(RB1):c.2104C>T (p.Gln702Ter) rs1131690865
NM_000321.2(RB1):c.2105A>G (p.Gln702Arg) rs1131690857
NM_000321.2(RB1):c.2107-1G>A rs587778860
NM_000321.2(RB1):c.211_212AG[4] (p.Arg73fs) rs587778862
NM_000321.2(RB1):c.2128_2132del (p.Gly710fs) rs1131690896
NM_000321.2(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.2(RB1):c.219A>C (p.Arg73Ser) rs1131690854
NM_000321.2(RB1):c.2244G>A (p.Glu748=) rs1131690911
NM_000321.2(RB1):c.2299_2302del (p.Asn767fs) rs1131690894
NM_000321.2(RB1):c.2325+1G>A rs1131690882
NM_000321.2(RB1):c.2325+1G>C rs1131690882
NM_000321.2(RB1):c.2325+5G>A rs886042249
NM_000321.2(RB1):c.2327C>A (p.Pro776His) rs912203557
NM_000321.2(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.2(RB1):c.2360G>A (p.Arg787Gln) rs748094394
NM_000321.2(RB1):c.2392C>T (p.Arg798Trp) rs187912365
NM_000321.2(RB1):c.2413_2420del (p.Tyr805fs) rs1131690868
NM_000321.2(RB1):c.2439T>A (p.Tyr813Ter) rs774744607
NM_000321.2(RB1):c.2439T>G (p.Tyr813Ter) rs774744607
NM_000321.2(RB1):c.2455C>G (p.Leu819Val) rs375751988
NM_000321.2(RB1):c.2455C>T (p.Leu819=) rs375751988
NM_000321.2(RB1):c.2463A>G (p.Thr821=) rs370088029
NM_000321.2(RB1):c.2465del (p.Pro822fs) rs1131690866
NM_000321.2(RB1):c.2489+1G>A rs764754259
NM_000321.2(RB1):c.2489+1G>C rs764754259
NM_000321.2(RB1):c.2501C>A (p.Ser834Ter) rs1131690906
NM_000321.2(RB1):c.2513C>A (p.Ser838Ter) rs1131690908
NM_000321.2(RB1):c.2519G>A (p.Gly840Glu) rs1131690900
NM_000321.2(RB1):c.2520+1G>T rs587778850
NM_000321.2(RB1):c.2520+3_2520+6delGAGT rs1131690858
NM_000321.2(RB1):c.2520+5G>A rs1131690881
NM_000321.2(RB1):c.2533T>C (p.Phe845Leu) rs754183765
NM_000321.2(RB1):c.2559T>C (p.Cys853=) rs148327780
NM_000321.2(RB1):c.2566G>A (p.Asp856Asn) rs149359120
NM_000321.2(RB1):c.2570G>A (p.Arg857His) rs144668210
NM_000321.2(RB1):c.2626C>T (p.Arg876Cys) rs143105337
NM_000321.2(RB1):c.264+1G>A rs1131690907
NM_000321.2(RB1):c.264+5G>C rs1131690853
NM_000321.2(RB1):c.277C>T (p.Gln93Ter) rs1131690915
NM_000321.2(RB1):c.281dup (p.Lys95fs) rs1131690862
NM_000321.2(RB1):c.297G>A (p.Trp99Ter) rs794727481
NM_000321.2(RB1):c.367A>G (p.Asn123Asp) rs149800437
NM_000321.2(RB1):c.380+1G>A rs1131690902
NM_000321.2(RB1):c.380G>A (p.Ser127Asn) rs1131690843
NM_000321.2(RB1):c.380G>C (p.Ser127Thr) rs1131690843
NM_000321.2(RB1):c.411A>T (p.Glu137Asp) rs3092902
NM_000321.2(RB1):c.42C>T (p.Ala14=) rs148980395
NM_000321.2(RB1):c.434del (p.Asp145fs) rs1131690912
NM_000321.2(RB1):c.443del (p.Met148fs) rs1131690867
NM_000321.2(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.2(RB1):c.496G>T (p.Glu166Ter) rs1131690874
NM_000321.2(RB1):c.500+1G>T rs1131690880
NM_000321.2(RB1):c.52G>T (p.Ala18Ser) rs528218090
NM_000321.2(RB1):c.539del (p.Ser179_Ser180insTer) rs1131690871
NM_000321.2(RB1):c.549del (p.Glu184fs) rs1131690887
NM_000321.2(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.2(RB1):c.590C>A (p.Thr197Lys) rs1131690883
NM_000321.2(RB1):c.59C>T (p.Pro20Leu) rs587778637
NM_000321.2(RB1):c.607+1G>A rs587776789
NM_000321.2(RB1):c.607+1G>T rs587776789
NM_000321.2(RB1):c.607+2dup rs1131690895
NM_000321.2(RB1):c.608-4delT rs762805947
NM_000321.2(RB1):c.628G>T (p.Asp210Tyr) rs148992508
NM_000321.2(RB1):c.644C>A (p.Ser215Ter) rs768305224
NM_000321.2(RB1):c.681del (p.Lys228fs) rs1131690905
NM_000321.2(RB1):c.69G>A (p.Pro23=) rs746662122
NM_000321.2(RB1):c.69_71GCC[3] (p.Pro29del) rs587778823
NM_000321.2(RB1):c.69_71GCC[5] (p.Pro29dup) rs587778823
NM_000321.2(RB1):c.702del (p.Leu234fs) rs1131690878
NM_000321.2(RB1):c.709G>T (p.Glu237Ter) rs1131690904
NM_000321.2(RB1):c.718+5G>T rs1131690848
NM_000321.2(RB1):c.731_732delinsATC (p.Ile244fs) rs1131690890
NM_000321.2(RB1):c.735del (p.Ile246fs) rs1131690847
NM_000321.2(RB1):c.751C>T (p.Arg251Ter) rs1131690863
NM_000321.2(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.2(RB1):c.814A>G (p.Arg272Gly) rs1555284945
NM_000321.2(RB1):c.846del (p.Glu282fs) rs1131690849
NM_000321.2(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.2(RB1):c.862-2A>C rs1131690914
NM_000321.2(RB1):c.867A>C (p.Lys289Asn) rs1555285126
NM_000321.2(RB1):c.869del (p.Asn290fs) rs1131690901
NM_000321.2(RB1):c.88G>C (p.Glu30Gln) rs1555279228
NM_000321.2(RB1):c.920C>T (p.Thr307Ile) rs183898408
NM_000321.2(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000321.2(RB1):c.940-1G>A rs1131690860
NM_000321.2(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000321.2(RB1):c.959G>A (p.Arg320Gln) rs760787104
NM_000321.2(RB1):c.964G>T (p.Glu322Ter) rs776534331
NM_000321.2(RB1):c.9_42dup (p.Ala15fs) rs1555279195

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