ClinVar Miner

List of variants in gene FANCD2 reported as uncertain significance for Fanconi anemia complementation group D2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.33G>A (p.Glu11=) rs147426418 0.00031
NM_001018115.3(FANCD2):c.28T>C (p.Ser10Pro) rs150075366 0.00009
NM_001018115.3(FANCD2):c.-33-13G>A rs113338938 0.00006
NM_001018115.3(FANCD2):c.2984G>A (p.Gly995Glu) rs1479681259 0.00004
NM_001018115.3(FANCD2):c.35A>T (p.Asp12Val) rs2086517367

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.