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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000203.5(IDUA):c.1164G>C (p.Thr388=)
Benign
mucopolysaccharidosis type 12024-12-15
1.0
ClinGen Lysosomal Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IDUA Version 1.0.0IDUA
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