If you’ve been searching in ClinVar, you might have noticed search improvements introduced in December that reliably connect you with information on your variant of interest. ClinVar has broadened its search capability to accept many different ways of expressing the same variation, including variation described on RefSeq transcripts and proteins. If your variant expression is not reported in ClinVar, we alert you to other variants at the same genomic location or link you to related information in other NCBI resources such as dbSNP, LitVar, and PubMed. ClinVar will also now interpret expressions that contain minor errors or warn you about improper syntax that it cannot interpret.
Figure 1. Improved search results in Clinvar showing mapping of an HGVS expression to the equivalent variant in ClinVar.
Here are some example queries that show the improved search results.
NM_001318787.1:c.2258G>A – an HGVS expression that is not in ClinVar, but ClinVar has an alternate expression for a variant (Figure 1).
NM_004958.3:c.7365C>A – a variant not in ClinVar, but another variant is at the same genomic location is in ClinVar.
NM_002113.2:c.19delG – a variant is not in ClinVar, but there is additional information for the variant in other databases.
We welcome your feedback on your search experience and any additional ideas on how to improve searching in ClinVar.