ClinVar Miner

List of variants studied for Junctional epidermolysis bullosa with pyloric atresia by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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.3474+21T>C rs820388 0.50671
NM_000210.4(ITGA6):c.1487+7A>G rs1920979 0.39869
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=) rs8669 0.37872
NM_000210.4(ITGA6):c.2082C>T (p.Asp694=) rs2293649 0.24360
NM_000210.4(ITGA6):c.2247C>G (p.Val749=) rs61748247 0.00663

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.