ClinVar Miner

List of variants reported as likely pathogenic for Retinoblastoma

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Total variants: 30
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HGVS dbSNP
NC_000013.10:g.(?_48916729)_(48942746_?)dup
NC_000013.10:g.(?_48919206)_(48919345_?)del
NC_000013.10:g.(?_48919210)_(48919341_?)del
NC_000013.10:g.(?_48953730)_(48955579_?)del
NC_000013.10:g.(?_49027119)_(49030495_?)dup
NC_000013.10:g.(?_49037861)_(49039510_?)dup
NM_000321.2(RB1):c.1002del (p.Arg334fs)
NM_000321.2(RB1):c.1049+3A>G rs1566194415
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1215+2T>G rs1060503074
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.1389+1G>T rs1060503087
NM_000321.2(RB1):c.1390-14A>G rs9535023
NM_000321.2(RB1):c.1390-2A>C rs1555286568
NM_000321.2(RB1):c.1436_1438ACA[1] (p.Asn480del) rs587776788
NM_000321.2(RB1):c.1498+5G>A rs1566199125
NM_000321.2(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.2(RB1):c.1696-2A>G
NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.2(RB1):c.1814+3A>C rs376886420
NM_000321.2(RB1):c.2106+2T>A
NM_000321.2(RB1):c.2489+2T>C rs1555294636
NM_000321.2(RB1):c.2663G>A (p.Ser888Asn) rs1555295354
NM_000321.2(RB1):c.380G>C (p.Ser127Thr) rs1131690843
NM_000321.2(RB1):c.539+1G>A rs1566187856
NM_000321.2(RB1):c.596T>A (p.Leu199Ter) rs121913298
NM_000321.2(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.2(RB1):c.940-1G>T rs1131690860
NM_000321.2(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_020937.4(FANCM):c.4826_4827del (p.Asp1609fs) rs1375421660

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