ClinVar annotations now available in NCBI Genome Browsers

Do you need to know which of the many NCBI dbSNP variants annotated near your region of interest are likely to be functionally or clinically significant? Figure it out with the track labelled  ‘ClinVar variants with precise endpoints’, available on sequence display viewers at NCBI, including the Genome Data Viewer (GDV) and Variation Viewer!

This track shows variation annotation, including single nucleotide variants and other short variants (e.g. insertions, deletions, etc.) in the NCBI ClinVar database and provides pathogenicity and other metadata. The ClinVar track is displayed next to the default NCBI and Ensembl gene annotation tracks and other NCBI-provided dbSNP and RNA-seq expression tracks.

screenshot of Genome Data Viewer with 'ClinVar variants' track displayed
Figure 1. GDV showing ‘ClinVar variants with precise endpoints’ track next to NCBI human gene annotation. Tracks are color coded for quick and easy interpretation. Legend is also provided.

The track label indicates the ClinVar Variation ID (on the left) and the ClinVar allele (on the right).

Zoomed in view of NCBI genome browser showing annotation at the sequence level
Figure 2. Zoomed in view of NCBI genome browser showing annotation at the sequence level. The alleles reported in the ClinVar track can be compared to codon annotation in the NCBI Gene annotation track and to the reference genome sequence (see outlined examples).

A hover-over tooltip displays additional allele features, including the ClinVar review status, variation type, allele, and predicted molecular consequence.

Screenshot of a hover-over tooltip for additional allele features details.
Figure 3. Screenshot of a hover-over tooltip for additional allele features details.

You’ll find links to the ClinVar record, and also the corresponding record in the NCBI SNP database, if available. This tooltip can be pinned to keep it in place when you move your mouse. You can also highlight and copy any of this information.

You can find more information about variation track coloring and displays in our Sequence Viewer legends documentation.  Please get in touch if you have any questions or suggestions via the Feedback button on the page or by writing to the NCBI Help Desk.

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