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DentDiseaseAtlas currently catalogs over 520 unique, potentially pathogenic CLCN5 variants identified in more than 880 families affected by Dent Disease type 1. For detailed methods and analysis, please see the associated publication: 

Database of CLCN5 Pathogenic Variants Causing Dent Disease

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DNA variants, protein variants (using three‑letter amino acid codes), and associated PMID identifiers are fully searchable. To find all known DD1 pathogenic variants, simply enter PATHOGENIC in the search field.

 

We warmly encourage you to submit newly observed CLCN5 variants using the submission link on the site. Your contributions help expand and refine this community resource.