ClinVar Clinical Variants Database

Overview

ClinVar is NCBI's public archive of interpretations of variants submitted by clinical laboratories, researchers, and expert panels. It contains 2M+ variants with clinical significance classifications (Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign) for over 6,000 conditions. Access is free and requires no authentication via NCBI E-utilities.

When to Use

• Checking whether a specific variant (rsID, HGVS, or genomic position) has a clinical significance classification
• Retrieving all pathogenic/likely-pathogenic variants in a gene of interest
• Identifying conflicting interpretations between submitting laboratories
• Pulling condition/phenotype associations for a variant (MIM, MeSH, HPO terms)
• Building variant filtering pipelines that prioritize clinically actionable variants
• For somatic cancer variants, also check cosmic-database; for GWAS associations use gwas-database

Prerequisites