ClinVar Miner

Variants in gene FANCE with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg) rs149097636 0.00098
NM_021922.3(FANCE):c.696G>A (p.Glu232=) rs147356927 0.00098
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser) rs141268133 0.00059
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp) rs375195621 0.00013
NM_021922.3(FANCE):c.552A>C (p.Pro184=) rs138182352 0.00006
NM_021922.3(FANCE):c.330G>A (p.Pro110=) rs757051494 0.00001
NM_021922.3(FANCE):c.1263T>C (p.Cys421=) rs747692546
NM_021922.3(FANCE):c.1593G>A (p.Leu531=) rs886061332
NM_021922.3(FANCE):c.937C>T (p.Leu313=) rs557021652

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.