Search results
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.
ClinVar aggregates information about genomic variation and its relationship to human health. Using ClinVar. About ClinVar. Data Dictionary. Downloads/FTP site. FAQ. Contact Us. Subscribe to the ClinVar mailing list. Tools. ACMG Recommendations for Reporting of Secondary Findings. ClinVar Submission Portal. Submissions. Variation Viewer.
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.
In its first five years, ClinVar has successfully provided a gateway for the submission of medically relevant variants and interpretations of their significance to disease. It has become an invaluable resource for the clinical genetics community seeking guidance from consensus interpretations.
Jan 4, 2018 · ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health.
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.
ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports of relationships among medically important variants and phenotypes. ClinVar accessions submissions reporting human variation, interpretations of the relationship of that variation to human health and the ev ….
Jun 4, 2024 · Methods to access the data. Web access. The data in ClinVar's web site are updated weekly, on Mondays. The comprehensive data extractions occur weekly, so that data on the web is in sync with data downloaded as XML. There are multiple ways to identify information in ClinVar on the web.
