ClinVar Miner

Variants in gene SLC25A13 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) rs80338729 0.00006
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter) rs780525233 0.00003
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met) rs768922690 0.00001
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter) rs1254503252
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys) rs973986984

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.