ClinVar Miner

List of variants reported as uncertain significance for generalized junctional epidermolysis bullosa non-Herlitz type by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (7):

Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type
Epithelial recurrent erosion dystrophy; Junctional epidermolysis bullosa, non-Herlitz type; Late-onset junctional epidermolysis bullosa
Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex 1C, localized; Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa with pyloric atresia; Junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, non-Herlitz type
Laryngo-onycho-cutaneous syndrome; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type

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: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000228.3(LAMB3):c.1410G>A (p.Trp470Ter)
NM_000228.3(LAMB3):c.1482C>G (p.Asn494Lys)
NM_000228.3(LAMB3):c.1654C>T (p.Arg552Cys)

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.