ClinVar Miner

List of variants reported as uncertain significance for congenital hereditary endothelial dystrophy of cornea by Prof. Brien Holden Eye Research Center, Hyderabad Eye Research Foundation, L V Prasad Eye Institute

Included ClinVar conditions (2):

Congenital hereditary endothelial dystrophy of cornea
Corneal dystrophy-perceptive deafness syndrome; Congenital hereditary endothelial dystrophy of cornea; Corneal dystrophy, Fuchs endothelial, 4

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=)	rs3827075	0.49054
NM_001174089.2(SLC4A11):c.1391G>T (p.Ser464Ile)

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