List of variants in gene RB1 reported as uncertain significance 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: 35

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000321.3(RB1):c.2570G>A (p.Arg857His)	rs144668210	0.00013
NM_000321.3(RB1):c.2464C>G (p.Pro822Ala)	rs368413787	0.00008
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp)	rs367668687	0.00004
NM_000321.3(RB1):c.941T>A (p.Val314Asp)	rs780006952	0.00004
NM_000321.3(RB1):c.109A>G (p.Ser37Gly)	rs896487590	0.00003
NM_000321.3(RB1):c.2397T>G (p.Ile799Met)	rs749392116	0.00003
NM_000321.3(RB1):c.-149G>T	rs1014776340	0.00001
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln)	rs767011440	0.00001
NM_000321.3(RB1):c.1163T>G (p.Ile388Ser)	rs373623059	0.00001
NM_000321.3(RB1):c.1198C>G (p.Leu400Val)	rs535576919	0.00001
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu)	rs748635133	0.00001
NM_000321.3(RB1):c.1976A>G (p.Tyr659Cys)	rs751799266	0.00001
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu)	rs3092903	0.00001
NM_000321.3(RB1):c.2198A>T (p.His733Leu)	rs778503152	0.00001
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)	rs374523971	0.00001
NM_000321.3(RB1):c.2636T>C (p.Ile879Thr)	rs764140783	0.00001
NM_000321.3(RB1):c.2639A>C (p.Glu880Ala)	rs1259535894	0.00001
NM_000321.3(RB1):c.273T>C (p.Tyr91=)	rs750136284	0.00001
NC_000013.11:g.48303704A>G	rs1952048465
NM_000321.3(RB1):c.1108C>T (p.Pro370Ser)	rs1168863456
NM_000321.3(RB1):c.1265T>C (p.Ile422Thr)
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr)	rs201458896
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn)	rs774706300
NM_000321.3(RB1):c.1827T>C (p.Pro609=)	rs1593531889
NM_000321.3(RB1):c.2255T>C (p.Ile752Thr)
NM_000321.3(RB1):c.240A>T (p.Lys80Asn)
NM_000321.3(RB1):c.2504T>C (p.Ile835Thr)
NM_000321.3(RB1):c.2533T>C (p.Phe845Leu)	rs754183765
NM_000321.3(RB1):c.2569C>T (p.Arg857Cys)
NM_000321.3(RB1):c.333T>C (p.Asp111=)
NM_000321.3(RB1):c.381-1G>A	rs1566186836
NM_000321.3(RB1):c.474G>C (p.Leu158Phe)	rs1319691084
NM_000321.3(RB1):c.83C>T (p.Pro28Leu)	rs776175164
NM_000321.3(RB1):c.884A>G (p.Asn295Ser)	rs2138116381
NM_000321.3(RB1):c.914T>C (p.Leu305Pro)

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.