Discover more disease-causing mutations with HGMD Summer ’19 release


QIAGEN Digital Insights

Discover more disease-causing mutations with HGMD Summer ’19 release

We are happy to announce the Summer ’19 Release of the Human Gene Mutation Database (HGMD) Professional is now available to customers globally. The Summer ’19 release contains over 260,000 expert-curated, disease-causing mutations, providing clinical researchers with an ever-expanding gamut of knowledge and tools to improve their gene and mutation-level data analysis.

Release highlights

  • Contains 263,141 expert-curated, disease-causing mutations—that’s 11,388 more mutation entries in just three months.
  • Features ClinVar links and predictions for corresponding HGMD mutation entries
  • Includes updates to ANNOVAR and Genome Trax™ databases

View the complete HGMD 2019.2 statistics HERE

New ClinVar links and predictions

ClinVar links and predictions have been added to the entries of HGMD mutations with corresponding clinically-relevant variants found in ClinVar. For those mutations, easily view their ClinVar ID, clinical significance according to ClinVar, and hyperlinked citation.

Example mutation page featuring new ClinVar information.

Includes updates to ANNOVAR and Genome Trax databases

What is ANNOVAR?

ANNOVAR is an efficient software tool to utilize update-to-date information to functionally annotate genetic variants detected from human genomes hg18, hg19, and hg38. When HGMD is licensed with ANNOVAR, users can easily annotate an entire genome in less than four minutes.

The HGMD Summer ’19 release includes the following new ANNOVAR databases:

  • gnomAD exome and genome collection (v2.1.1) on hg38 through liftover

Learn more about how ANNOVAR can be used with HGMD for variant annotation.

Watch a recorded webinar featuring ANNOVAR HERE.

What is Genome Trax?

Genome Trax is a comprehensive compilation of variant knowledge that is made available for download for easy integration into your proprietary or commercial variant analysis pipelines for human whole genome, exome and targeted sequences.

With the latest release of HGMD, new HGMD-related tracks have been added from Genome Trax, including the TRANSFAC® release 2019.2, and PROETOME™ release 2019.2.

Turn your NGS data into standardized reports 

For labs looking to expand into clinical test reporting of inherited diseases, HGMD Professional can be upgraded to QIAGEN Clinical Insight (QCI) Interpret, clinical decision support software with the industry’s largest, most up-to-date knowledge base (containing more than 35 public and proprietary databases, including HGMD Professional).

QCI Interpret reproducibly translates highly complex NGS data into concise, clinician-ready reports, using current clinical evidence and all 28 criteria of the ACMG/AMP published guidelines for the assessment of variants in genes associated with Mendelian diseases.

To learn more about upgrading to QCI Interpret, contact one of our dedicated sales agents at

Currently using 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 HERE


1 Stenson, P. D., et al. (2017). The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human genetics136(6), 665–677. doi:10.1007/s00439-017-1779-6

2 HGMD Professional Release Summaries:


Share on: