List of variants in gene RB1 reported as pathogenic by Eurofins NTD LLC (GA)

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: 20

Download table as spreadsheet

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_000321.2(RB1):c.1402_1412dup (p.Gln471Hisfs)	rs797044649
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)	rs121913301
NM_000321.3(RB1):c.1191del (p.Glu398fs)	rs727504121
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)	rs398123331
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter)	rs886043247
NM_000321.3(RB1):c.1585dup (p.Tyr529fs)	rs398123332
NM_000321.3(RB1):c.1696-1G>A	rs794727199
NM_000321.3(RB1):c.2067_2079delinsCAC (p.Gln689fs)	rs398123333
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)	rs137853293
NM_000321.3(RB1):c.2370C>A (p.Tyr790Ter)	rs794727372
NM_000321.3(RB1):c.2488_2489+7del	rs1555294634
NM_000321.3(RB1):c.2489+1G>C	rs764754259
NM_000321.3(RB1):c.2548C>T (p.Gln850Ter)	rs886042935
NM_000321.3(RB1):c.297G>A (p.Trp99Ter)	rs794727481
NM_000321.3(RB1):c.376del (p.Ile126fs)	rs886042357
NM_000321.3(RB1):c.396del (p.Phe132fs)	rs886043313
NM_000321.3(RB1):c.54_79del (p.Glu19fs)	rs727504120
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)	rs587778842

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.