ClinVar Miner

List of variants in gene AGER studied 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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001136.5(AGER):c.964+208A>G	rs3134940	0.14137
NM_001136.5(AGER):c.822+49G>T	rs184003	0.12403
NM_001136.5(AGER):c.992-6G>A	rs2071288	0.03937
NM_001136.5(AGER):c.244G>A (p.Gly82Ser)	rs2070600	0.03890

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