ClinVar

• Table of Contents
• About
  • Selected Papers
• How to Access
  • Download Overview
  • File Listing
  • Issue Reporting
• How to Cite

"ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type or genomic location. Interpretations are submitted by clinical testing laboratories, research laboratories, locus-specific databases, OMIM , GeneReviews, UniProt, expert panels and practice guidelines."

Excerpted from paper at doi: 10.1093/nar/gkv1222.

Selected Papers

• Location on Cheaha is $SHARE_PROJECT/bioitx/hosted-data/gov/nih/nlm/ncbi/ftp/pub/clinvar.
• You must be a member of the bioitx Unix group to access these data.
• Data are read-only.

Download Overview

• Version: Aug 3, 2017 Data Release
  • See Release Notes.
• Download Date: Sep 1, 2017
• Total size: 100 GB.

File Listing

Issue Reporting

Relevant tracked issues on UAB GitLab (blazerid access required):

• https://gitlab.rc.uab.edu/jelaiw/infrastructure-development/issues/13
• https://gitlab.rc.uab.edu/jelaiw/infrastructure-development/issues/17

ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes hosted by the National Center for Biotechnology Information (NCBI) and funded by intramural National Institutes of Health (NIH) funding.

The data used for the analyses described in this manuscript were obtained from the ClinVar FTP server on 09/01/2017 and staged to dedicated shared storage at UAB in order to better facilitate researcher access to important public data. These hosted data are documented and supported in part by the Informatics Institute uab-bioitx team and infrastructure.