List of variants reported as benign for Diamond-Blackfan anemia 3 by Illumina Clinical Services Laboratory,Illumina

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: 12

Download table as spreadsheet

HGVS	dbSNP
NM_033022.3(RPS24):c.-109A>G	rs3740254
NM_033022.4(RPS24):c.*21C>T	rs114512325
NM_033022.4(RPS24):c.*99T>C	rs146068394
NM_033022.4(RPS24):c.-32C>T	rs553773136
NM_033022.4(RPS24):c.-36T>G	rs45533232
NM_033022.4(RPS24):c.-7C>A	rs200489620
NM_033022.4(RPS24):c.-8T>G	rs185722293
NM_033022.4(RPS24):c.168T>C (p.Phe56=)	rs57866839
NM_033022.4(RPS24):c.177A>G (p.Gly59=)	rs6496
NM_033022.4(RPS24):c.235C>T (p.Leu79=)	rs192994060
NM_033022.4(RPS24):c.371A>G (p.Asn124Ser)	rs147128920
NM_033022.4(RPS24):c.391-3C>A	rs7899453

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.