ClinVar Miner

List of variants in gene HBA2, LOC106804612 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000517.6(HBA2):c.*107A>G rs2541640 0.99433
NM_000517.6(HBA2):c.-24C>G rs772829778 0.06872
NM_000517.6(HBA2):c.409C>A (p.Leu137Met) rs41364652 0.00012
NM_000517.6(HBA2):c.375C>G (p.Ser125=) rs775058691 0.00010
NM_000517.6(HBA2):c.95+36C>T rs1455019991 0.00010
NM_000517.6(HBA2):c.*98T>C rs1455865276 0.00007
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457 0.00004
NM_000517.6(HBA2):c.*82G>A rs1165799259 0.00003
NM_000517.6(HBA2):c.*103G>A rs1363099908 0.00002
NM_000517.6(HBA2):c.95+1G>A rs63750158 0.00002
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000517.6(HBA2):c.414C>T (p.Thr138=) rs371394396 0.00001
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416 0.00001
NM_000517.4(HBA2):c.-79C>G rs1555449252
NM_000517.5(HBA2):c.-41C>G rs1188584832
NM_000517.6(HBA2):c.*32G>T rs3020599
NM_000517.6(HBA2):c.-3_-2del
NM_000517.6(HBA2):c.124A>G (p.Thr42Ala) rs281860654
NM_000517.6(HBA2):c.148A>C (p.Ser50Arg) rs1596569718
NM_000517.6(HBA2):c.180C>T (p.Gly60=) rs1596569781
NM_000517.6(HBA2):c.224A>G (p.Asp75Gly) rs281864856
NM_000517.6(HBA2):c.237C>G (p.Asn79Lys) rs281860607
NM_000517.6(HBA2):c.24G>T (p.Lys8Asn) rs281860604
NM_000517.6(HBA2):c.271A>G (p.Lys91Glu) rs63750093
NM_000517.6(HBA2):c.301-13_301-12insGGCCCCC rs778442461
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC rs1596570272
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn) rs63750010
NM_000517.6(HBA2):c.344C>T (p.Pro115Leu) rs267607269
NM_000517.6(HBA2):c.349G>A (p.Glu117Lys) rs33987053
NM_000517.6(HBA2):c.369C>A (p.His123Gln)
NM_000517.6(HBA2):c.43T>C (p.Trp15Arg)
NM_000517.6(HBA2):c.46G>A (p.Gly16Ser)
NM_000517.6(HBA2):c.55G>C (p.Gly19Arg) rs63750294
NM_000517.6(HBA2):c.77G>A (p.Gly26Asp)
NM_000517.6(HBA2):c.79G>A (p.Ala27Thr) rs41467944
NM_000517.6(HBA2):c.95+39C>T rs1025977498
NM_000517.6(HBA2):c.96-37A>C rs1555449277

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.