ClinVar Miner

List of variants reported as pathogenic for Waardenburg syndrome type 2 by Laboratory of Prof. Karen Avraham,Tel Aviv University

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
NM_000248.3(MITF):c.887del (p.Gly296fs) rs878853234
NM_001354607.2(MITF):c.884T>C (p.Leu295Pro) rs1553704097
NM_006722.2(MITF):c.979dup (p.Leu327fs)

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.