List of variants studied for Diamond-Blackfan anemia 7 by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000975.5(RPL11):c.339C>T (p.Ile113=)	rs8880	0.02525
NM_000975.5(RPL11):c.*52A>G	rs60606712	0.01119
NM_000975.5(RPL11):c.30C>T (p.Asn10=)	rs139286202	0.00076
NM_000975.5(RPL11):c.396+9A>G	rs201786327	0.00058
NM_000975.5(RPL11):c.153C>T (p.Ser51=)	rs80133698	0.00025
NM_000975.5(RPL11):c.102G>A (p.Thr34=)	rs199772693	0.00022
NM_000975.5(RPL11):c.158-7C>T	rs768654673	0.00006
NM_000975.5(RPL11):c.-14T>C	rs886046307	0.00002
NM_000975.5(RPL11):c.264+9A>T	rs777041270	0.00001
NM_000975.5(RPL11):c.287A>G (p.Lys96Arg)	rs369949969	0.00001
NM_000975.5(RPL11):c.306T>C (p.Thr102=)	rs886046309	0.00001
NM_000975.5(RPL11):c.270G>A (p.Arg90=)	rs886046308

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.