ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago and "pathogenic" from any submitter

Minimum review status of the submission from Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago: Collection method of the submission from Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago:
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_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter) rs546151500 0.00001
NM_001105537.3(ZNF142):c.[4183delC;4185G>A]
NM_001379659.1(ZNF142):c.1417_1418del (p.Lys473fs) rs1447313633
NM_001379659.1(ZNF142):c.1892del (p.Cys631fs) rs1559296368

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.