ClinVar Miner

List of variants reported as pathogenic 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr)	rs121909212
NM_000358.3(TGFBI):c.1619T>C (p.Phe540Ser)	rs121909214
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)	rs121909208

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