ClinVar Miner

List of variants in gene MBD5 reported as pathogenic by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP
MBD5, THR157GLNFSTER4
NM_018328.4(MBD5):c.150delT (p.Thr52Hisfs) rs398122412
nsv513766

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.