List of variants in gene MBD5 reported by Diagnostic Laboratory, Strasbourg University Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001378120.1(MBD5):c.1379_1389del (p.Ser460fs)	rs1680708290
NM_001378120.1(MBD5):c.3079A>G (p.Thr1027Ala)	rs1681239379
NM_001378120.1(MBD5):c.3987del (p.Ser1330fs)	rs1681453811
NM_001378120.1(MBD5):c.4648del (p.Gln1550fs)	rs1681481862
NM_001378120.1(MBD5):c.670C>T (p.Pro224Ser)	rs1680672685
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)	rs1553518509

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.