ClinVar Miner

List of variants reported as likely pathogenic for familial hemolytic anemia by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro) rs2148218886
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr) rs2151019809
NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)
NM_003126.4(SPTA1):c.2335_2352delinsGCTCTCA (p.Lys779fs)

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.