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Human Gene Mutation Database (HGMD)

 
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HGMD remains the largest, most consulted resource for finding disease-causing mutations. Founded and maintained by the Institute of Medical Genetics at Cardiff University in 1999, the database contains over 269,000 manually curated mutation reports from over 2,600 peer-reviewed journals.

 

World´s largest database of inherited disease mutations

    • All data is based on published, peer-reviewed literature

    • All mutation entries are manually curated and evaluated for accuracy

    • All mutation reports contain links to the original source

 

→ HGMD Fall 2019 Release has arrived. See what’s new!

 

 

Inherited disease mutation content

  • 269,419

    detailed mutation reports

  • 18,000+

    new mutation reports per year

  • 10,500+

    summary reports listing all known inherited disease mutations

View database statistics


HGMD supports Genomics England’s

5 million genomes in 5 years

 

“Our experience of using QIAGEN’s HGMD for the 100,000 Genomes Project guided our decision to continue to rely upon this industry-leading resource.”

Augusto Rendon, Director of Bioinformatics and Genomics England

 

Read the press release

 

 

HGMD Pro v HGMD Public

Using HGMD can bring a lot of benefits and added value to your lab’s research, but HGMD Professional gives your lab the confidence and opportunity to do more.
 
See what you’re missing
 

Need an easy-to-use tool for variant discovery?

Find disease-causing variants faster and with fewer false leads using Ingenuity Variant Analysis (IVA), a software-as-a-service that taps into the knowledge of millions of scientific findings, including HGMD Professional, to help you zero-in on causal variants.
 
Learn more


Interested in expanding into clinical test reporting?

For labs looking to generate clinician-ready reports for germline or somatic NGS testing, QIAGEN Clinical Insight (QCI) Interpret reproducibly translates highly complex NGS data into standardized reports using current clinical evidence from the QIAGEN Knowledge Base, which consists of over 40 public and proprietary databases, including HGMD Professional.

Learn more
 

Already have a NGS variant analysis pipeline?

The HGMD data download option provides full flexibility to integrate HGMD mutation data into your own and select third party programs and tools.

View sample data

 

Trust in the gold standard for mutation content

 

Request a trial

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System requirements

HGMD Download

  • Windows system (Windows 7 recommended)
  • Linux system (Ubuntu 14.04 LTS recommended)
  • 1.5 GHz processor minimum, 2 GHz processor recommended
  • 2GB RAM minimum, 3GB RAM recommended
  • MySQL 5.x.x
  • At least 3GB free disk space
HGMD Online

  • Requires a browser with the Java plugin enabled