ClinVar Miner

Variants with conflicting interpretations "likely benign" from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine and "uncertain significance" from any submitter

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: 12
Download table as spreadsheet
HGVS dbSNP
NM_002693.2(POLG):c.1251G>A (p.Arg417=) rs1567191509
NM_002693.2(POLG):c.131A>G (p.Gln44Arg) rs757120802
NM_002693.2(POLG):c.2027C>T (p.Ala676Val) rs376306906
NM_002693.2(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.2(POLG):c.3216C>G (p.Thr1072=) rs146936870
NM_002693.2(POLG):c.3273+6T>A rs886051522
NM_002693.2(POLG):c.32G>A rs765472726
NM_002693.2(POLG):c.3482+6C>T rs55779802
NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) rs148786642
NM_002693.2(POLG):c.391T>C (p.Tyr131His) rs562847013
NM_002693.2(POLG):c.516G>A (p.Ala172=) rs1028326668
NM_002693.2(POLG):c.678G>C (p.Gln226His) rs147282197

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.