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Discover more disease-causing mutations

398,681

detailed mutation reports

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

45,000+

new mutation reports per year

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

11,500+

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 2022.4, over 398,000 detailed mutations are now recorded in the database.