ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine and "pathogenic" from Baylor Genetics

Minimum review status of the submission from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine: Collection method of the submission from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 0.00003
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr) rs778429780

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.