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

Submission 1 (other) minimum review status:		Submission 1 (other) 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: 14

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.178G>C (p.Gly60Arg)	rs41328049	0.00003
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)	rs41397847	0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro)	rs41529844	0.00001
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)	rs41464951
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu)	rs41464951
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp)	rs281864846
NM_000517.6(HBA2):c.301-1G>A	rs587776827
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)	rs41417548
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	rs41397847
NM_000517.6(HBA2):c.379G>A (p.Asp127Asn)	rs33933481
NM_000517.6(HBA2):c.420del (p.Lys140fs)	rs63750520
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser)	rs41321345
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro)	rs41341344

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.