ClinVar Miner

List of variants studied for Fanconi anemia by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000135.4(FANCA):c.983_986TCAC[1] (p.His330fs) rs772359099
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer) rs747253294
NM_022725.3(FANCF):c.690del (p.Gly231fs) rs747622521

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.