List of variants in gene RB1 reported by Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000321.3(RB1):c.380+10C>G	rs187110786	0.00158
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)	rs142509759	0.00059
NM_000321.3(RB1):c.-11G>A	rs1376823332	0.00002
NM_000321.3(RB1):c.1325G>C (p.Gly442Ala)	rs1370947947	0.00001
NM_000321.3(RB1):c.1499-10del	rs148580581
NM_000321.3(RB1):c.2211+3A>G	rs2138342752
NM_000321.3(RB1):c.2490-1398A>G	rs587776791
NM_000321.3(RB1):c.2663+2T>C	rs587778839
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.