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ClinVar archives and aggregates information about relationships among variation and human health.
ClinVar archives and aggregates information about relationships among variation and human health.
Jan 25, 2024 · ClinVar is a freely accessible, public archive of reports of human variations classified for diseases and drug responses, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed conditions, and the history of those assertions.
Jan 26, 2024 · Just type your search term and click on the Search button to the right of the search box. ClinVar can be searched with terms like: gene symbols, e.g. PTEN. gene symbol and c. or p., e.g., mutyh c.1187g>a. location / chromosome coordinates, e.g., chr1:11,102,837-11,267,747, 2:144,213,941 - 144,690,824, etc.
Apr 3, 2023 · 10 years of ClinVar. The field of variant discovery and classification for diseases has increased rapidly in the last decade! In its initial release in April 2013, ClinVar held 27K variants. As of April 2023, ClinVar offers: 2M+ variants. 2K+ submitters. 80+ countries across the globe.
NCBI ClinVar. The NCBI ClinVar database collects reports from scientists on human genetic variants and their relationships to disease. Its purpose is to bridge genetic variation data and observations or assertions about phenotypes that are related to those variations.
ClinVar is a public archive with free access to reports on the relationships between human variations and phenotypes, with supporting evidence. The database includes germline and somatic variants of any size, type or genomic location.
