ClinVar Miner

List of variants reported as pathogenic for Fanconi anemia by Leiden Open Variation Database

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NC_000023.11:g.14843408_14873063del
NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter)
NM_001018113.3(FANCB):c.128T>C (p.Leu43Ser)
NM_001018113.3(FANCB):c.1496+5G>A rs1569085810
NM_001018113.3(FANCB):c.1497_2580del (p.Ser500fs)
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) rs1569083679
NM_001018113.3(FANCB):c.1807_1808GA[2] (p.Arg604fs)
NM_001018113.3(FANCB):c.1855_1856AG[1] (p.Arg619fs) rs1569083464
NM_001018113.3(FANCB):c.1856_1857insT (p.Arg619fs)
NM_001018113.3(FANCB):c.195dup (p.Thr66fs)
NM_001018113.3(FANCB):c.2150T>G (p.Leu717Ter) rs1569083185
NM_001018113.3(FANCB):c.2165+1G>T
NM_001018113.3(FANCB):c.2172_2175del (p.Thr725fs)
NM_001018113.3(FANCB):c.2249_2252del (p.Gly750fs)
NM_001018113.3(FANCB):c.755_767del (p.Leu252fs)
NM_001018113.3(FANCB):c.829dup (p.Cys277fs)
NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter)
NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro)

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.