ClinVar Miner

List of variants in gene PKLR reported as likely pathogenic for anemia (disease)

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_000298.5(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.5(PKLR):c.391_393delATC (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg)
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)

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.