ClinVar Miner

List of variants reported as likely pathogenic for multicentric carpo-tarsal osteolysis with or without nephropathy

Included ClinVar conditions (2):

Multicentric carpo-tarsal osteolysis with or without nephropathy
Multicentric carpo-tarsal osteolysis with or without nephropathy; Duane retraction syndrome 3 with or without deafness

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005461.5(MAFB):c.173C>G (p.Thr58Arg)	rs1600429281
NM_005461.5(MAFB):c.176C>G (p.Pro59Arg)
NM_005461.5(MAFB):c.197C>T (p.Ser66Phe)	rs1600429244
NM_005461.5(MAFB):c.203C>T (p.Pro68Leu)

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.