ClinVar Miner

List of variants studied for Dominant beta-thalassemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.201del (p.Val68fs)	rs193922553
NM_000518.5(HBB):c.344T>C (p.Leu115Pro)	rs36015961
NM_000518.5(HBB):c.364G>T (p.Glu122Ter)	rs33946267
NM_000518.5(HBB):c.382C>T (p.Gln128Ter)
NM_000518.5(HBB):c.3G>A (p.Met1Ile)	rs33930702

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.