Discover more disease-causing mutations
410,743
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 2023.1, over 410,000 detailed mutations are now recorded in the database.
