ClinVar Miner

List of variants in gene RB1 reported by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_000321.3(RB1):c.731T>C (p.Ile244Thr) rs147754935 0.00004
NM_000321.3(RB1):c.1859C>T (p.Thr620Met) rs554834063 0.00003
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys) rs759079385 0.00001
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser) rs754507551 0.00001
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1294A>T (p.Lys432Ter) rs1566197747
NM_000321.3(RB1):c.1332+4A>G rs2138136847
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1456_1457del (p.Leu486fs) rs587778832
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.3(RB1):c.1706del (p.Leu569fs) rs1131690842
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1893del (p.Ala632fs)
NM_000321.3(RB1):c.1960+1316_2107-767del
NM_000321.3(RB1):c.2106+2T>C rs1566235515
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.2403del (p.Asn803fs)
NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer) rs1566240909
NM_000321.3(RB1):c.2558G>A (p.Cys853Tyr) rs1566240940
NM_000321.3(RB1):c.264+5G>A rs1131690853
NM_000321.3(RB1):c.2674C>T (p.Pro892Ser)
NM_000321.3(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.3(RB1):c.381-1G>A rs1566186836
NM_000321.3(RB1):c.43_80dup (p.Pro28fs)
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000321.3(RB1):c.722del (p.Thr241fs)
NM_000321.3(RB1):c.847T>C (p.Cys283Arg)
NM_000321.3(RB1):c.868_869dup (p.Asn290fs)
NM_000321.3(RB1):c.92dup (p.Asp32fs) rs1566174147

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