ClinVar Miner

List of variants studied for granular corneal dystrophy type II by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (2):

Avellino corneal dystrophy
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
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser)	rs121909217	0.00103
NM_000358.3(TGFBI):c.895G>A (p.Asp299Asn)	rs202239395	0.00047

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