Genetic & genomic
HGMD
Human Gene Mutation Database
"The literature-curated catalogue of disease-causing germline mutations."
About the resource
HGMD, the Human Gene Mutation Database, is a Cardiff University–based catalogue of germline mutations reported in the literature to cause or be associated with inherited human disease. It captures the variant, the gene, the disease, the inheritance and the citing publication, and is one of the most comprehensive literature-derived mutation resources for diagnostic interpretation.
The HGMD public version is limited and lags behind by several years. HGMD Professional, licensed by Qiagen, ships quarterly with current content and is widely used by diagnostic and clinical-research laboratories alongside ClinVar.
What you'd use it for
- 01Cross-reference candidate variants against published disease-causing mutations
- 02Audit the literature trail behind a variant's pathogenicity claim
- 03Use within diagnostic-lab variant-interpretation workflows alongside ClinVar
How you access it
Web UIPer-gene downloadsVCF subsets (Pro)