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Discover more disease-causing mutations


detailed mutation reports

All data is based on published, peer-reviewed literature that has been manually curated and evaluated for accuracy.


new mutation reports per year

Every quarter, HGMD Professional content and functionality is updated to ensure you remain informed on the latest findings.


detailed summary reports

For certain mutations, HGMD Professional includes summaries of disease-associated/functional polymorphisms. 

View the complete HGMD Professional statistics

HGMD Professional provides you with access to curated, peer-reviewed evidence that supports more precise, comprehensive variant interpretation. In the latest release, HGMD Professional 2023.3, over 456,000 detailed mutations are now recorded in the database.