Germline variants · Cardiff University · Expert curation
HGMD Professional (Human Gene Mutation Database) is an extensive database of germline variants associated with inherited diseases. It is maintained by a team of experts at Cardiff University. It contains 575,068 variants from peer-reviewed literature, supplemented with clinical annotations, and is widely used as a reference source in clinical variant interpretation. A public version of the database is available free of charge, but its updates lag more than three years behind HGMD Professional.
HGMD is a systematically maintained database of germline variants associated with inherited diseases. An expert team at Cardiff University continuously reviews the peer-reviewed literature, extracts variant information and adds clinical context, including phenotype, mode of inheritance and pathogenicity classification. The data are updated on an ongoing basis through a combination of manual and automated searching, and the team monitors more than 3,100 scientific journals. The result is 575,068 variant entries across thousands of genes, with references to the original publications, genomic coordinates and links to dbSNP and OMIM.
HGMD Professional is the paid version, with complete content and regular quarterly updates. Release 2026.1 added more than 4,700 new entries, and more than 45,000 are added each year. The database is used in clinical and academic laboratories. Since May 2026, HGMD can be integrated directly into the Franklin platform, where it extends variant filtering options and brings classifications and links to related literature together in a single working environment.
The public version of HGMD offers only part of the content and features available in HGMD Professional. Its entries are published more than three years later than in the Professional version, and it lacks some of the advanced search options that are important for variant interpretation and classification.
Free, but more than three years behind
Complete content, quarterly updates and advanced search options
Each entry includes genomic coordinates, sequence information, pathogenicity classification, phenotype, a reference to the original publication and links to dbSNP and OMIM.
An overview of disease-associated variants or functionally significant polymorphisms for each gene, so the evidence needed for interpretation is gathered in one place.
Experts at Cardiff University extract the data directly from peer-reviewed publications rather than aggregating them from other databases. They regularly monitor more than 3,100 scientific journals.
A new release comes out every quarter. Release 2026.1 added more than 4,700 new entries, and more than 45,000 are added each year.
Searching by chromosomal position, gene ontology and phenotype makes it possible to find clinically relevant associations that the public version does not offer.
Since 2026, HGMD can be integrated directly into the Franklin platform, and it is part of QCI Interpret.
ACMG-based variant classification using evidence from peer-reviewed literature helps reduce the number of variants of uncertain significance.
Used, for example, for BRCA1/BRCA2, Lynch syndrome and other hereditary cancer predispositions. HGMD is an important source of evidence for assessing variant pathogenicity.
When analysing exome and genome data, HGMD helps identify previously described pathogenic variants, even in large datasets.
Variant classification based on peer-reviewed evidence is important when assessing carrier status and in family planning, including IVF and PGT.
HGMD can be used as a reference source for comparison with your own in-house variant classifications.
HGMD data can serve as a basis for meta-analyses, genotype–phenotype studies and research into the natural history of disease.
We will arrange the annual licence and advise on connecting it to your workflow (VarSome, Alamut, in-house pipeline, Franklin) and on managing updates.