List of variants in gene MBD5 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001378120.1(MBD5):c.1039C>T (p.Gln347Ter)	rs1559086213
NM_001378120.1(MBD5):c.1114_1115dup (p.Asn372fs)	rs1553518527
NM_001378120.1(MBD5):c.1549C>T (p.Gln517Ter)	rs1553518593
NM_001378120.1(MBD5):c.1759C>T (p.Gln587Ter)	rs1559087186
NM_001378120.1(MBD5):c.2025_2028del (p.Met675fs)	rs1131691713
NM_001378120.1(MBD5):c.361_362del (p.Pro121fs)	rs1553517973
NM_001378120.1(MBD5):c.3824del (p.Pro1275fs)	rs1574484218
NM_001378120.1(MBD5):c.4318C>T (p.Arg1440Ter)	rs978179634
NM_001378120.1(MBD5):c.4398dup (p.Val1467fs)	rs1553520585
NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter)	rs886041003
NM_001378120.1(MBD5):c.546T>G (p.Tyr182Ter)	rs1559085550
NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter)	rs1293936199
NM_001378120.1(MBD5):c.601C>T (p.Gln201Ter)	rs200287454
NM_001378120.1(MBD5):c.688C>T (p.Gln230Ter)	rs1085307859
NM_001378120.1(MBD5):c.890_891del (p.Ile297fs)	rs796052719
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.