ClinVar Miner

List of variants in gene RB1 reported as pathogenic by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 164
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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_000321.2(RB1):c.-198G>A rs387906521
NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs) rs1131690845
NM_000321.2(RB1):c.382_383dupGT
NM_000321.3(RB1):c.1024del (p.Thr342fs) rs587778844
NM_000321.3(RB1):c.1027del (p.Leu343fs) rs1131690873
NM_000321.3(RB1):c.1030C>T (p.Gln344Ter)
NM_000321.3(RB1):c.1047_1049+168delinsATCAATAA
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs) rs587778829
NM_000321.3(RB1):c.1064_1065del (p.Arg355fs) rs1131690861
NM_000321.3(RB1):c.106del (p.Asp36fs) rs1131690913
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1072_1074delinsGG (p.Arg358fs) rs1131690872
NM_000321.3(RB1):c.1105del (p.Ile369fs)
NM_000321.3(RB1):c.1128-2A>G rs1131690892
NM_000321.3(RB1):c.1147C>T (p.Gln383Ter) rs1131690846
NM_000321.3(RB1):c.1158del (p.Met386fs)
NM_000321.3(RB1):c.118del (p.Glu40fs) rs1593412261
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1215+1G>C
NM_000321.3(RB1):c.1215+2T>G rs1060503074
NM_000321.3(RB1):c.1229del (p.Asn410fs) rs1131690897
NM_000321.3(RB1):c.1251_1252del (p.Arg418fs) rs1131690889
NM_000321.3(RB1):c.128dup (p.Leu44fs)
NM_000321.3(RB1):c.1321dup (p.Ile441fs) rs1131690875
NM_000321.3(RB1):c.1328C>A (p.Ser443Ter) rs1060503079
NM_000321.3(RB1):c.1333-1G>A rs2138140730
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.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)
NM_000321.3(RB1):c.137+1G>T rs1131690855
NM_000321.3(RB1):c.1372G>T (p.Glu458Ter) rs1131690884
NM_000321.3(RB1):c.137G>A (p.Arg46Lys)
NM_000321.3(RB1):c.1389+1G>A
NM_000321.3(RB1):c.1389+5G>A rs1131690859
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.1403T>G (p.Leu468Ter)
NM_000321.3(RB1):c.1421+1del rs1555286576
NM_000321.3(RB1):c.1422-1G>T
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del) rs587776788
NM_000321.3(RB1):c.1447del (p.His483fs) rs1131690910
NM_000321.3(RB1):c.1450_1451del (p.Met484fs) rs1948522792
NM_000321.3(RB1):c.1450_1459del (p.Met484fs)
NM_000321.3(RB1):c.1498+2T>C
NM_000321.3(RB1):c.1502_1514del (p.Ser501fs) rs1131690856
NM_000321.3(RB1):c.1531del (p.Asp511fs)
NM_000321.3(RB1):c.1575del (p.Phe526fs) rs1131690876
NM_000321.3(RB1):c.1590del (p.Lys530_Val531insTer)
NM_000321.3(RB1):c.1625T>A (p.Leu542Ter) rs1593457065
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter) rs1948534542
NM_000321.3(RB1):c.164del (p.Pro55fs)
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.3(RB1):c.1695+3A>C rs1131690870
NM_000321.3(RB1):c.1706del (p.Leu569fs) rs1131690842
NM_000321.3(RB1):c.1726_1729del (p.Ser576fs)
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1811del (p.Asp604fs) rs1131690893
NM_000321.3(RB1):c.1814+1G>A
NM_000321.3(RB1):c.1814+2T>G rs1131690899
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter) rs137853297
NM_000321.3(RB1):c.1818T>G (p.Tyr606Ter)
NM_000321.3(RB1):c.1822del (p.Ser608fs)
NM_000321.3(RB1):c.1853C>G (p.Ser618Ter)
NM_000321.3(RB1):c.1853_1857del (p.Ser618fs)
NM_000321.3(RB1):c.1939_1940del (p.Leu647fs)
NM_000321.3(RB1):c.1946del (p.Leu649fs)
NM_000321.3(RB1):c.1960+5G>C rs587778871
NM_000321.3(RB1):c.1960G>C (p.Val654Leu) rs483352690
NM_000321.3(RB1):c.1993del (p.Leu665fs)
NM_000321.3(RB1):c.19dup (p.Arg7fs) rs1131690852
NM_000321.3(RB1):c.2011_2014del (p.Glu672fs) rs1131690885
NM_000321.3(RB1):c.2014G>T (p.Glu672Ter) rs1131690903
NM_000321.3(RB1):c.2042G>A (p.Trp681Ter)
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter) rs878853949
NM_000321.3(RB1):c.2055del (p.Gln685fs) rs1131690844
NM_000321.3(RB1):c.2074_2087del (p.Tyr692fs)
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.3(RB1):c.2104C>T (p.Gln702Ter) rs1131690865
NM_000321.3(RB1):c.2105A>G (p.Gln702Arg) rs1131690857
NM_000321.3(RB1):c.2124del (p.Met708fs)
NM_000321.3(RB1):c.2128_2132del (p.Gly710fs) rs1131690896
NM_000321.3(RB1):c.2164A>T (p.Lys722Ter) rs587778849
NM_000321.3(RB1):c.219_220del (p.Arg73fs) rs587778862
NM_000321.3(RB1):c.2210dup (p.Thr738fs)
NM_000321.3(RB1):c.2211G>A (p.Glu737=) rs587776787
NM_000321.3(RB1):c.2266del (p.Tyr756fs)
NM_000321.3(RB1):c.2287A>T (p.Arg763Ter)
NM_000321.3(RB1):c.2299_2302del (p.Asn767fs) rs1131690894
NM_000321.3(RB1):c.2325+1G>A rs1131690882
NM_000321.3(RB1):c.2325+5G>A rs886042249
NM_000321.3(RB1):c.2346dup (p.Pro783fs)
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu) rs1593539386
NM_000321.3(RB1):c.2413_2420del (p.Tyr805fs) rs1131690868
NM_000321.3(RB1):c.2439T>A (p.Tyr813Ter) rs774744607
NM_000321.3(RB1):c.2439T>G (p.Tyr813Ter) rs774744607
NM_000321.3(RB1):c.2465del (p.Pro822fs) rs1131690866
NM_000321.3(RB1):c.2480dup (p.Arg828fs)
NM_000321.3(RB1):c.2489+1G>A rs764754259
NM_000321.3(RB1):c.2489+1G>C rs764754259
NM_000321.3(RB1):c.2496_2505del (p.Ser834fs)
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter) rs1131690906
NM_000321.3(RB1):c.2513C>A (p.Ser838Ter) rs1131690908
NM_000321.3(RB1):c.2520+1G>T rs587778850
NM_000321.3(RB1):c.2520+1del rs587776779
NM_000321.3(RB1):c.2520+3_2520+6del rs1131690858
NM_000321.3(RB1):c.2520+5G>C rs1131690881
NM_000321.3(RB1):c.25del (p.Thr9fs)
NM_000321.3(RB1):c.264+1G>A rs1131690907
NM_000321.3(RB1):c.277C>T (p.Gln93Ter) rs1131690915
NM_000321.3(RB1):c.281dup (p.Lys95fs) rs1131690862
NM_000321.3(RB1):c.297G>A (p.Trp99Ter) rs794727481
NM_000321.3(RB1):c.334G>T (p.Glu112Ter)
NM_000321.3(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.3(RB1):c.373G>T (p.Glu125Ter) rs1952457111
NM_000321.3(RB1):c.377del (p.Ile126fs) rs2138084130
NM_000321.3(RB1):c.380+1G>A rs1131690902
NM_000321.3(RB1):c.434del (p.Asp145fs) rs1131690912
NM_000321.3(RB1):c.443del (p.Met148fs) rs1131690867
NM_000321.3(RB1):c.446C>G (p.Ser149Ter) rs587778870
NM_000321.3(RB1):c.453_454del (p.Leu152fs)
NM_000321.3(RB1):c.496G>T (p.Glu166Ter) rs1131690874
NM_000321.3(RB1):c.500+1G>T rs1131690880
NM_000321.3(RB1):c.506del (p.Cys169fs)
NM_000321.3(RB1):c.524del (p.Thr175fs)
NM_000321.3(RB1):c.526_527del (p.Gln176fs)
NM_000321.3(RB1):c.539del (p.Ser179_Ser180insTer) rs1131690871
NM_000321.3(RB1):c.549del (p.Glu184fs) rs1131690887
NM_000321.3(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.3(RB1):c.54_79del (p.Glu19fs) rs727504120
NM_000321.3(RB1):c.54_79dup (p.Pro27fs)
NM_000321.3(RB1):c.55G>T (p.Glu19Ter)
NM_000321.3(RB1):c.56_75dup (p.Pro26fs)
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.62del (p.Pro21fs)
NM_000321.3(RB1):c.635del (p.Leu212fs)
NM_000321.3(RB1):c.644C>A (p.Ser215Ter) rs768305224
NM_000321.3(RB1):c.667del (p.Asp224fs)
NM_000321.3(RB1):c.681del (p.Lys228fs) rs1131690905
NM_000321.3(RB1):c.702del (p.Leu234fs) rs1131690878
NM_000321.3(RB1):c.709G>T (p.Glu237Ter) rs1131690904
NM_000321.3(RB1):c.731_732delinsATC (p.Ile244fs) rs1131690890
NM_000321.3(RB1):c.735del (p.Ile246fs) rs1131690847
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.772_776del (p.Asn258fs) rs1566192530
NM_000321.3(RB1):c.814del (p.Arg272fs)
NM_000321.3(RB1):c.846del (p.Glu282fs) rs1131690849
NM_000321.3(RB1):c.862-2A>C rs1131690914
NM_000321.3(RB1):c.863_864del (p.Val288fs)
NM_000321.3(RB1):c.869del (p.Asn290fs) rs1131690901
NM_000321.3(RB1):c.940-1G>A rs1131690860
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000321.3(RB1):c.963del (p.Arg320_Tyr321insTer) rs1952715820
NM_000321.3(RB1):c.964G>T (p.Glu322Ter) rs776534331
NM_000321.3(RB1):c.987del (p.Asp330fs)
NM_000321.3(RB1):c.995del (p.Asp332fs)
NM_000321.3(RB1):c.9_42dup (p.Ala15fs) rs1555279195

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