ClinVar Miner

List of variants in gene GALK1, ITGB4 studied for Junctional epidermolysis bullosa, non-Herlitz type

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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000213.5(ITGB4):c.*25C>T	rs9367	0.71419
NM_000213.5(ITGB4):c.5054-25C>G	rs2249613	0.66427
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)	rs871443	0.61836
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=)	rs8669	0.37872

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.