Using HGMD Public? Your Data Is 3 Years Behind


QIAGEN Digital Insights

Using HGMD Public? Your Data Is 3 Years Behind

The Human Gene Mutation Database (HGMD®) Professional has over 298,000 inherited disease-relevant mutations and polymorphisms–nearly 40% more than in the public version. In 2019 alone, HGMD Professional added over 31,000 new mutation entries, which won’t be available in the public version until 2022.

Only with HGMD Professional can you:

  • Save your search results as a text file or genome browser tracks for easy reference and documentation
  • Obtain the entire database in downloadable form.
  • Search using wildcards by keyword, title, text, mutation, gene, reference, phenotype, synonyms and external identifiers.
  • Browse mutations by chromosome location, alphabetically, or via built-in mutation viewer maps.
  • Access detailed information including additional supporting references, genomic coordinates, transcription factor binding sites,
    links to dbSNP, HGVS nomenclature, and expanded cDNA sequences.

But that’s not it. Check out the table below for a full comparison of HGMD Public vs. HGMD Pro.

HGMD Public vs. HGMD Pro

Feature HGMD Public HGMD Pro
Up-to-date content
Displays mutations 3 years or older X
Updates mutations every 3 months X
Search features
Search by gene symbol X X
Search by gene description X X
Search by OMIM number X X
Search by disease/phenotype X X
Search missense/nonsense variants X X
Search splice mutations X X
Search regulatory mutations X X
Search small deletions X X
Search small indels X X
Search gross deletions X X
Search gross insertions X X
Search complex rearrangements X X
Search repeat variations X X
Search by chromosomal location X
Search by HGNC/OMIM/GDB/Entrez ID X
Search by RefSeq transcript X
Search by gene ontology X
Search using operators (+,-,*,””) X
Search phenotype using UMLS semantic X
Search phenotype using HGMD phenotype X
Search references by first author X
Search references by PubMed journal X
Search references by PubMed ID X
Search references by publication year X
Search references by HGMD gene X
Search references by Medline journal abbreviation X
Batch search X
Advanced search (by substitution, motif, function,etc.) X
Display features
HGMD accession ID X X
Codon change X X
Amino acid change X X
Codon number X X
Associated phenotype X X
References X X
Misense/nonsense mutations X X
Splicing mutations X X
Regulatory mutations X X
Small deletions X X
Small insertions X X
Gross deletions X X
Gross insertions/duplications X X
Complex rearrangements X X
Repeat variations X X
cDNA sequence X X
Extended cDNA X
Mutation’s first published report X
Related genes X
Gene ontology X
Variant class (DM, DM?, FP, DP, DFP) X
Gene aliases X
Mutation sorted by location X
Mutation sorted by phenotype X
Mutation sorted by author X
Mutation sorted by year X
Mutation sorted by entrydate X
Extra information (HGVS, VCF, rankscore, etc.) X
Comparison between hg19 and hg38 X
Amino acid comparison X
dbNSFP predictions (CADD, MutationTaster, SIFT, Polyphen, etc. X
Orthologous amino acid conservation comparison X


If you’re using the public version of HGMD, your data is 3 years behind. The HGMD Professional trial is 100% FREE and has ZERO commitment. The world’s largest database of inherited human mutations is just a few clicks away.

Request your free trial of HGMD Professional today.
Request Free Trial