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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.
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.
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.
Mar 20, 2023 · ClinVar Submission Portal. ClinVar Submission Portal is the gateway to submit data to ClinVar at NCBI. In Submission Portal, you can: Log in or create an account; Register your organization. Determine if your organization is registered already; Register a new organization; Update an existing organization or personnel
Aug 30, 2022 · Maps clinically significant variants by gene and position! ClinVar is a freely accessible, public archive of reports of the relationships between human variations and phenotypes, with supporting evidence at NLM/NCBI.
Oct 11, 2019 · The current post highlight some of these improvements in the new ClinVar including the separate variant and condition views, retrieving specific versions of records, and support for ClinVar variant accessions and XML in the E-Utilities .
ClinVar is a 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.
