ClinVar Miner

List of variants reported as pathogenic for aplastic anemia by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099

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.