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KRT12

Synonyms
K12, MECD1
External resources
Summary
KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,574
Likely benign
982
Benign
160

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KRT12 gene.

Phenotype class
Patients in 3billion (%)

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