List of variants in gene HBA2, LOC106804612 studied for anemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000517.6(HBA2):c.96-2A>G	rs41457746	0.00004
NM_000517.6(HBA2):c.*92A>G	rs63750067	0.00002
NM_000517.4(HBA2):c.-59C>T	rs1277780626
NM_000517.6(HBA2):c.*94A>G	rs63751269
NM_000517.6(HBA2):c.199C>A (p.Leu67Met)	rs1280121011
NM_000517.6(HBA2):c.200T>A (p.Leu67Gln)	rs41323248
NM_000517.6(HBA2):c.200T>G (p.Leu67Arg)	rs41323248
NM_000517.6(HBA2):c.203C>T (p.Thr68Ile)	rs2142017990
NM_000517.6(HBA2):c.210_211insT (p.Val71fs)	rs2142018005
NM_000517.6(HBA2):c.301-1G>A	rs587776827
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	rs41397847
NM_000517.6(HBA2):c.404C>T (p.Thr135Ile)	rs281864488
NM_000517.6(HBA2):c.95+2_95+6del	rs41474145

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.