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: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
MBD5, THR157GLNFSTER4
NG_017003.3:g.262835_474705del
NM_001378120.1(MBD5):c.150del (p.Thr52fs) rs398122412
NM_001378120.1(MBD5):c.217-1G>C rs1707171202

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.