ClinVar Miner

List of variants studied for Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024420.3(PLA2G4A):c.1454G>A (p.Arg485His) rs121434635
NM_024420.3(PLA2G4A):c.1723G>C (p.Asp575His) rs1557895416
NM_024420.3(PLA2G4A):c.2118+4_2118+7del rs1557901999
NM_024420.3(PLA2G4A):c.331T>C (p.Ser111Pro) rs121434634

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.