ClinVar Miner

List of variants in gene AGER reported as likely pathogenic for COPD, severe early onset

Included ClinVar conditions (3):

COPD, severe early onset
Heme oxygenase 1 deficiency; COPD, severe early onset
Recessive dystrophic epidermolysis bullosa; COPD, severe early onset

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)

Total variants: 1

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001136.5(AGER):c.964+208A>G	rs3134940	0.14137

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.