ClinVar Miner

List of variants in gene RB1 reported as pathogenic by Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP
NG_009009.1:g.154289dupA rs1566233014
NG_009009.1:g.1662319T>A
NG_009009.1:g.166501C>G
NG_009009.1:g.5168-?_5303+?(2)
NM_000321.2(RB1):c.1021A>T (p.Lys341Ter) rs587778855
NM_000321.2(RB1):c.1024del (p.Thr342fs) rs587778844
NM_000321.2(RB1):c.103C>T (p.Gln35Ter) rs587778869
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.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.113_115delinsCT (p.Gly38fs) rs886037649
NM_000321.2(RB1):c.1147dup (p.Gln383fs) rs587778830
NM_000321.2(RB1):c.1166T>A (p.Leu389Ter) rs587778845
NM_000321.2(RB1):c.1215+1G>A rs587776783
NM_000321.2(RB1):c.1216-1G>A rs587778831
NM_000321.2(RB1):c.1332+1G>A rs587778846
NM_000321.2(RB1):c.1332+1G>T rs587778846
NM_000321.2(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.2(RB1):c.1346G>T (p.Gly449Val) rs587778847
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.2(RB1):c.1456_1457del (p.Leu486fs) rs587778832
NM_000321.2(RB1):c.1472T>C (p.Leu491Pro) rs587778848
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.1688G>A (p.Trp563Ter) rs587778863
NM_000321.2(RB1):c.1695+1G>A rs587778857
NM_000321.2(RB1):c.1723C>T (p.Gln575Ter) rs587778864
NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.2(RB1):c.1738G>T (p.Glu580Ter) rs587778858
NM_000321.2(RB1):c.1909C>T (p.Gln637Ter) rs587778833
NM_000321.2(RB1):c.1925T>A (p.Leu642Ter) rs587778865
NM_000321.2(RB1):c.1927A>G (p.Lys643Glu) rs587778866
NM_000321.2(RB1):c.1960+5G>A rs587778871
NM_000321.2(RB1):c.1961-2A>T rs587778867
NM_000321.2(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.2(RB1):c.1981C>T (p.Arg661Trp) rs137853294
NM_000321.2(RB1):c.2101G>A (p.Asp701Asn) rs587778859
NM_000321.2(RB1):c.2107-1G>C rs587778860
NM_000321.2(RB1):c.211_212AG[4] (p.Arg73fs) rs587778862
NM_000321.2(RB1):c.2164A>T (p.Lys722Ter) rs587778849
NM_000321.2(RB1):c.217del (p.Arg73fs) rs587778840
NM_000321.2(RB1):c.2197C>T (p.His733Tyr) rs587778835
NM_000321.2(RB1):c.2209G>T (p.Glu737Ter) rs587778868
NM_000321.2(RB1):c.2228_2231dup (p.Lys745fs) rs587778836
NM_000321.2(RB1):c.2247T>A (p.Tyr749Ter) rs587778861
NM_000321.2(RB1):c.227_228dup (p.Thr77Ter) rs587778824
NM_000321.2(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.2(RB1):c.2453del (p.Gly818fs) rs587778837
NM_000321.2(RB1):c.2490-1G>A rs587778838
NM_000321.2(RB1):c.2520+1G>A rs587778850
NM_000321.2(RB1):c.2525dup (p.Ser842_Glu843insTer) rs587778851
NM_000321.2(RB1):c.2663+2T>C rs587778839
NM_000321.2(RB1):c.305_306del (p.Cys102fs) rs587778825
NM_000321.2(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.2(RB1):c.438_441del (p.Asn146fs) rs587778841
NM_000321.2(RB1):c.446C>G (p.Ser149Ter) rs587778870
NM_000321.2(RB1):c.463dup (p.Tyr155fs) rs587778854
NM_000321.2(RB1):c.508G>T (p.Glu170Ter) rs587778826
NM_000321.2(RB1):c.69_71GCC[3] (p.Pro29del) rs587778823
NM_000321.2(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.2(RB1):c.795del (p.Lys265fs) rs587778827
NM_000321.2(RB1):c.884dup (p.Asn295fs) rs587778828
NM_000321.2(RB1):c.937G>T (p.Glu313Ter) rs587778843
NM_000321.2(RB1):c.958C>T (p.Arg320Ter) rs121913300

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