ClinVar Miner

List of variants in gene RB1 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr) rs587778640 0.00004
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) rs121913302 0.00001
NC_000013.10:g.(?_48953724)_(48955585_?)del
NC_000013.11:g.(?_48379594)_(48381443_?)del
NC_000013.11:g.(?_48452979)_(48465378_?)dup
NC_000013.11:g.(?_48452983)_(48465378_?)dup
NC_000013.11:g.48303714_48303721del rs2138025968
NM_000321.3(RB1):c.1002del (p.Arg334fs) rs1593448449
NM_000321.3(RB1):c.1049+1G>A rs587776782
NM_000321.3(RB1):c.1049+1G>T rs587776782
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1199T>C (p.Leu400Pro) rs2138131298
NM_000321.3(RB1):c.1215+5G>A
NM_000321.3(RB1):c.1331A>C (p.Gln444Pro) rs2138136810
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)
NM_000321.3(RB1):c.138-1G>A rs1593414337
NM_000321.3(RB1):c.1389+4A>C rs1131690879
NM_000321.3(RB1):c.1389+5G>C rs1131690859
NM_000321.3(RB1):c.1390-2A>G rs1555286568
NM_000321.3(RB1):c.1400_1403dup (p.Ser469fs) rs1555286570
NM_000321.3(RB1):c.1411C>T (p.Gln471Ter) rs1354030520
NM_000321.3(RB1):c.1419del (p.Phe473fs) rs1555286573
NM_000321.3(RB1):c.1421+12_1421+32del rs587781256
NM_000321.3(RB1):c.1421+1G>C rs1131690886
NM_000321.3(RB1):c.1421+1G>T
NM_000321.3(RB1):c.1421G>T (p.Ser474Ile) rs1555286575
NM_000321.3(RB1):c.1466G>A (p.Cys489Tyr) rs1131690877
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr) rs201458896
NM_000321.3(RB1):c.1498+1G>A rs1131690909
NM_000321.3(RB1):c.1498+2T>G rs1948523741
NM_000321.3(RB1):c.1519G>C (p.Asp507His) rs2138144909
NM_000321.3(RB1):c.1589A>G (p.Lys530Arg) rs1948534047
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+5G>A
NM_000321.3(RB1):c.1696-2A>G rs1593529868
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1960+5G>A rs587778871
NM_000321.3(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000321.3(RB1):c.1961T>A (p.Val654Glu) rs769113950
NM_000321.3(RB1):c.1963dup (p.Tyr655fs) rs2138335800
NM_000321.3(RB1):c.1964A>G (p.Tyr655Cys) rs774196937
NM_000321.3(RB1):c.1994T>G (p.Leu665Arg) rs483352689
NM_000321.3(RB1):c.2084T>A (p.Met695Lys)
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.3(RB1):c.2107-1G>A rs587778860
NM_000321.3(RB1):c.2117G>T (p.Cys706Phe) rs121913295
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2143A>T (p.Lys715Ter)
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.3(RB1):c.2279T>C (p.Phe760Ser) rs1949430890
NM_000321.3(RB1):c.2325+1G>C rs1131690882
NM_000321.3(RB1):c.2325+2T>G
NM_000321.3(RB1):c.2325+5G>C
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
NM_000321.3(RB1):c.2490-1530_*109del
NM_000321.3(RB1):c.2490-1G>C
NM_000321.3(RB1):c.2490-28T>G
NM_000321.3(RB1):c.2520+4A>G rs1949484627
NM_000321.3(RB1):c.2520+5G>A rs1131690881
NM_000321.3(RB1):c.2520+6T>C rs2138354759
NM_000321.3(RB1):c.264+5G>A rs1131690853
NM_000321.3(RB1):c.2663G>A (p.Ser888Asn) rs1555295354
NM_000321.3(RB1):c.273T>A (p.Tyr91Ter) rs750136284
NM_000321.3(RB1):c.277C>T (p.Gln93Ter) rs1131690915
NM_000321.3(RB1):c.32_63del (p.Ala11fs) rs1593411974
NM_000321.3(RB1):c.335_339del (p.Glu112fs) rs1064795438
NM_000321.3(RB1):c.373G>T (p.Glu125Ter) rs1952457111
NM_000321.3(RB1):c.380G>A (p.Ser127Asn) rs1131690843
NM_000321.3(RB1):c.380G>C (p.Ser127Thr) rs1131690843
NM_000321.3(RB1):c.380G>T (p.Ser127Ile) rs1131690843
NM_000321.3(RB1):c.381-1G>A rs1566186836
NM_000321.3(RB1):c.381-2A>T rs1952480014
NM_000321.3(RB1):c.402dup (p.Leu135fs)
NM_000321.3(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.3(RB1):c.501-2A>G
NM_000321.3(RB1):c.534_539+5del
NM_000321.3(RB1):c.539+1G>A rs1566187856
NM_000321.3(RB1):c.539+1G>C
NM_000321.3(RB1):c.539+4A>G
NM_000321.3(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.3(RB1):c.596T>A (p.Leu199Ter) rs121913298
NM_000321.3(RB1):c.607+2dup rs1131690895
NM_000321.3(RB1):c.652T>G (p.Leu218Val) rs1566191596
NM_000321.3(RB1):c.718+5G>T rs1131690848
NM_000321.3(RB1):c.719-1_719delinsAG rs2138112061
NM_000321.3(RB1):c.719-2A>T rs1952654925
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.3(RB1):c.861+2T>C
NM_000321.3(RB1):c.939G>A (p.Glu313=) rs2138116702
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000321.3:c.2265_2343delinsAT

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