ClinVar Miner

Variants with conflicting interpretations "likely benign" from Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine and "benign" 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 gnomAD frequency
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys) rs34382405 0.00823
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00455
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00146
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00128
NM_002693.3(POLG):c.1949+20G>C rs371964664 0.00117
NM_002693.3(POLG):c.1712+10G>A rs55962804 0.00040
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_002693.3(POLG):c.2157+11C>T rs56411159 0.00014
NM_002693.3(POLG):c.1743C>T (p.Asp581=) rs140743000 0.00006
NM_002693.3(POLG):c.2481-10A>C rs555280530
NM_002693.3(POLG):c.2994G>C (p.Ser998=) rs567030498

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.