List of variants reported as uncertain significance for beta-thalassemia and related diseases by Illumina Laboratory Services, 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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.*96T>C	rs34029390	0.00283
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	rs33947415	0.00064
NM_000518.5(HBB):c.324C>T (p.Gly108=)	rs193922562	0.00029
NM_000518.5(HBB):c.246C>A (p.Leu82=)	rs145669504	0.00022
NM_000518.5(HBB):c.294C>T (p.His98=)	rs34515413	0.00022
NM_000518.4(HBB):c.34G>A (p.Val12Ile)	rs33974228	0.00007
NM_000518.5(HBB):c.85C>T (p.Leu29=)	rs33958088	0.00004
NM_000518.5(HBB):c.-31C>T	rs63750628	0.00003
NM_000518.5(HBB):c.*18C>A	rs1348310843	0.00001
NM_000518.5(HBB):c.*53C>A	rs886048393	0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=)	rs769583496	0.00001
NM_000518.5(HBB):c.*56A>T	rs537944366
NM_000518.5(HBB):c.*59A>G	rs1345009528
NM_000518.5(HBB):c.402G>C (p.Val134=)	rs113082294

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.