List of variants in gene RB1 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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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_000321.3(RB1):c.1072C>T (p.Arg358Ter)	rs121913301
NM_000321.3(RB1):c.1128-1G>A	rs2138130852
NM_000321.3(RB1):c.1330C>T (p.Gln444Ter)
NM_000321.3(RB1):c.1332+1G>A	rs587778846
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)	rs3092891
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)	rs398123331
NM_000321.3(RB1):c.1629_1630del (p.Glu545fs)	rs1593457070
NM_000321.3(RB1):c.1695+2T>G	rs2138145859
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)	rs121913305
NM_000321.3(RB1):c.19dup (p.Arg7fs)	rs1131690852
NM_000321.3(RB1):c.2027T>G (p.Leu676Ter)	rs1566235448
NM_000321.3(RB1):c.2043G>A (p.Trp681Ter)
NM_000321.3(RB1):c.2211+1G>T	rs1949420231
NM_000321.3(RB1):c.2211+2T>C	rs2138342748
NM_000321.3(RB1):c.2326-1del
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)	rs137853293
NM_000321.3(RB1):c.2489+1G>A	rs764754259
NM_000321.3(RB1):c.287del (p.Lys96fs)	rs2138083574
NM_000321.3(RB1):c.371_372del (p.Ile124fs)	rs1566186125
NM_000321.3(RB1):c.607+1G>A	rs587776789
NM_000321.3(RB1):c.607+1G>T	rs587776789
NM_000321.3(RB1):c.658C>G (p.Leu220Val)	rs367960214
NM_000321.3(RB1):c.772_776del (p.Asn258fs)	rs1566192530
NM_000321.3(RB1):c.859G>T (p.Glu287Ter)	rs1593445246
NM_000321.3(RB1):c.861+2del	rs1064795296
NM_000321.3(RB1):c.889del (p.Ile297fs)	rs1555285133
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)	rs121913300

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