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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 · What is ClinVar? 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.
Jul 14, 2021 · The content on this website is based on ClinVar database version July 14, 2021. Type 'clinvar', a 'disease term', a 'gene name' or a 'variant' in HGVS format. Simple ClinVar was developed to provide gene- and disease-wise summary statistic based on all available genetic variants from ClinVar.
Jun 4, 2024 · 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.
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.