ClinVar Miner

Variants in gene RB1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2663G>A (p.Ser888Asn) rs1555295354
NM_000321.3(RB1):c.32_63del (p.Ala11fs) rs1593411974
NM_000321.3(RB1):c.381-1G>A rs1566186836
NM_000321.3(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.3(RB1):c.596T>A (p.Leu199Ter) rs121913298
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300

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.