ClinVar Miner

List of variants in gene RB1 reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.2212-15A>G rs372815788 0.00212
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp) rs187912365 0.00051
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000321.3(RB1):c.113G>A (p.Gly38Asp) rs766529534 0.00016
NM_000321.3(RB1):c.462G>A (p.Lys154=) rs369830657 0.00004
NM_000321.3(RB1):c.1464G>A (p.Ala488=) rs753520981 0.00002
NM_000321.3(RB1):c.1128-5del rs886038280 0.00001
NM_000321.3(RB1):c.862-8T>C rs745767704 0.00001
NM_000321.3(RB1):c.1390-18_1390-17del
NM_000321.3(RB1):c.1410T>C (p.Ile470=) rs578226820
NM_000321.3(RB1):c.1421+19G>A
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.3(RB1):c.2212-12G>T rs776987458
NM_000321.3(RB1):c.2212-14C>A
NM_000321.3(RB1):c.2212-14del
NM_000321.3(RB1):c.2212-15A>C
NM_000321.3(RB1):c.2212-19_2212-16del
NM_000321.3(RB1):c.2212-22_2212-16del
NM_000321.3(RB1):c.2212-3C>A
NM_000321.3(RB1):c.2212-9C>A rs765386327
NM_000321.3(RB1):c.2406G>A (p.Gly802=) rs866638680
NM_000321.3(RB1):c.2455C>G (p.Leu819Val) rs375751988
NM_000321.3(RB1):c.2455C>T (p.Leu819=) rs375751988
NM_000321.3(RB1):c.501-17_501-15del rs755753209
NM_000321.3(RB1):c.608-4del rs762805947
NM_000321.3(RB1):c.608-4dup rs762805947
NM_000321.3(RB1):c.861+10C>G

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.