ClinVar Miner

Variants in gene UNC13D with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe) rs55661958 0.01066
NM_199242.3(UNC13D):c.2298+15C>T rs112341334 0.00741
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_199242.3(UNC13D):c.2955-14G>C rs138462345 0.00196
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_199242.3(UNC13D):c.2052C>G (p.Leu684=) rs150861045 0.00070
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_199242.3(UNC13D):c.154-8T>A rs369433391 0.00009
NM_199242.3(UNC13D):c.2954+432del

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.