Variants in gene combination HBA2, LOC106804612 with conflicting interpretations reported as "uncertain significance and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000517.4(HBA2):c.142G>C (p.Asp48His)	rs281864834	0.00003
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)	rs41529844	0.00001
NM_000517.6(HBA2):c.98T>G (p.Met33Arg)	rs1468615416	0.00001
NM_000517.6(HBA2):c.420del (p.Lys140fs)	rs63750520
NM_000517.6(HBA2):c.79G>A (p.Ala27Thr)	rs41467944

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.