ClinVar Miner

List of variants reported as uncertain significance for corneal dystrophy, lattice type 3A

Included ClinVar conditions (3):

Corneal dystrophy, lattice type 3A
Corneal dystrophy, lattice type 3A; Groenouw corneal dystrophy type I
Corneal dystrophy, lattice type 3A; Thiel-Behnke corneal dystrophy; Reis-Bucklers' corneal dystrophy; Avellino corneal dystrophy; Epithelial basement membrane dystrophy; Lattice corneal dystrophy Type I; Groenouw corneal dystrophy type I

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000358.3(TGFBI):c.1631A>G (p.Asn544Ser)	rs777288957	0.00005
NM_000358.3(TGFBI):c.387G>C (p.Arg129Ser)	rs765026368	0.00001

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