ClinVar Miner

List of variants in gene HBA2, LOC106804612 studied for Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Erythrocytosis, familial, 7

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000517.6(HBA2):c.-59C>T rs1277780626 0.00251
NM_000517.6(HBA2):c.60del (p.His21fs) rs886041399 0.00006
NM_000517.6(HBA2):c.69del (p.Glu24fs) rs1270810159 0.00006
NM_000517.6(HBA2):c.96-2A>G rs41457746 0.00004
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000517.6(HBA2):c.*92A>G rs63750067 0.00003
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) rs41417548 0.00002
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter) rs281864550 0.00002
NM_000517.6(HBA2):c.*94A>G rs63751269 0.00001
NM_000517.6(HBA2):c.2del (p.Met1fs) rs63750678 0.00001
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_000517.6(HBA2):c.*93_*94del rs63751268
NM_000517.6(HBA2):c.149_150del (p.Ser50fs)
NM_000517.6(HBA2):c.1A>G (p.Met1Val) rs121909803
NM_000517.6(HBA2):c.301-1G>A rs587776827
NM_000517.6(HBA2):c.307A>C (p.Ser103Arg) rs41321052
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg) rs1263969213
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.394T>C (p.Ser132Pro)
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser) rs41321345
NM_000517.6(HBA2):c.43T>C (p.Trp15Arg) rs281864810
NM_000517.6(HBA2):c.47del (p.Gly16fs)
NM_000517.6(HBA2):c.48dup (p.Lys17Ter)
NM_000517.6(HBA2):c.82_83insT (p.Glu28fs)
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000517.6(HBA2):c.98T>C (p.Met33Thr)

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.