List of variants reported as pathogenic for Diamond-Blackfan anemia 10 by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000012.10:g.54711095_54731551del
NM_001029.5(RPS26):c.1A>G (p.Met1Val)	rs143951267
NM_001029.5(RPS26):c.1A>T (p.Met1Leu)	rs143951267
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter)	rs148942765
NM_001029.5(RPS26):c.3+1G>A	rs148622862
NM_001029.5(RPS26):c.31dup (p.Ala11fs)	rs786200892
NM_001029.5(RPS26):c.4-2A>T	rs786203998
NM_001029.5(RPS26):c.97G>A (p.Asp33Asn)	rs267607023

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.