Some Search Suggestions
  • Generally, the easiest and most comprehensive way to search is by ‘Position’ or by ‘Codon’.
  • When searching by ‘Protein change’ or ‘DNA change’ you must put the ‘p.’ or ‘c.’ respectively, before the desirable search objects. Also, you must use the correct HGVS nomenclature.
  • Unfortunately, searching through a range of amino acids or nucleotides is not possible because of the manner the underlying database was constructed. If you are looking for variants that span multiple amino acids or nucleotides it is best to search by a particular ‘Gene’ and ‘Position’.
  • If searching using the ‘Position’ pull-down menu, deletions or amplifications greater than one exon/intron will only be found under the exon/intron where the deletion/amplification begins. (e.g. a deletion of exons 4-16 in MSH2 will only be found under ‘Exon 4’).
  • You can search for a particular variant or variant type in all genes by selecting the blank in the ‘Gene’ pulldown menu.
  • It is possible to search using multiple fields (e.g. codon + variant type + year published).
Helpful Hints

If you are interested in importing some of the database you can download the print version of your search and copy and paste to a spreadsheet which can then be manipulated. You can also request a complete copy of the database through our contact form.