ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, University Hospital of Duesseldorf and "uncertain significance" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University Hospital of Duesseldorf: Collection method of the submission from Institute of Human Genetics, University Hospital of Duesseldorf:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_001540.5(HSPB1):c.415A>G (p.Thr139Ala) rs1554614648
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621

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.