ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Cardiovascular Biomarker Research Laboratory,Mayo Clinic and "likely pathogenic" from any submitter

Minimum review status of the submission from Cardiovascular Biomarker Research Laboratory,Mayo Clinic: Collection method of the submission from Cardiovascular Biomarker Research Laboratory,Mayo Clinic:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
Download table as spreadsheet
HGVS dbSNP
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.941-4G>A

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.