List of variants reported as benign for beta thalassemia by The ITHANET community portal, The Cyprus Institute of Neurology and Genetics

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000011.10:g.5227540G>A	rs10742584	0.96393
NC_000011.10:g.5227411G>A	rs10742583	0.83082
NM_000518.5(HBB):c.315+16G>C	rs10768683	0.82893
NM_000518.5(HBB):c.316-185C>T	rs1609812	0.82712
NM_000518.5(HBB):c.9T>C (p.His3=)	rs713040	0.82706
NM_000518.5(HBB):c.315+74T>G	rs7480526	0.44189
NM_000518.5(HBB):c.315+81C>T	rs7946748	0.10445
NM_000518.5(HBB):c.316-373C>A	rs78815705	0.02031
NM_000518.4(HBB):c.*182G>A	rs113969885	0.01596
NM_000518.5(HBB):c.93-23T>C	rs111851677	0.00593
NM_000518.5(HBB):c.316-272G>C	rs773343845	0.00006
NM_000518.5(HBB):c.-31C>T	rs63750628	0.00003
NM_000518.5(HBB):c.-35A>G	rs1847590703
NM_000518.5(HBB):c.315+255T>C	rs1847544780
NM_000518.5(HBB):c.316-208C>G	rs1847537539
NM_000518.5(HBB):c.316-272G>T	rs773343845
NM_000518.5(HBB):c.92+13G>T	rs753444453

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.