ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Molecular Genetics Laboratory, Institute for Ophthalmic Research and "uncertain significance" from any submitter

Minimum review status of the submission from Molecular Genetics Laboratory, Institute for Ophthalmic Research: Collection method of the submission from Molecular Genetics Laboratory, Institute for Ophthalmic Research:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr) rs752170364 0.00001
NM_013322.3(SNX10):c.284G>A (p.Arg95His) rs897553060 0.00001

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.