ClinVar Miner

List of variants reported as likely pathogenic for Fanconi anemia, complementation group I

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_001113378.2(FANCI):c.100C>T (p.Gln34Ter)
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) rs1359408831
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr) rs140404896
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs)

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.