ClinVar - sporedata/researchdesigneR GitHub Wiki

General description

ClinVar is a publicly available archive of reports on the associations between human variations and phenotypes, along with supporting data.

ClinVar facilitates access to and communication about the hypothesized relationships between observed health status and human variation, and the background to that interpretation.

Related publications

• ClinVar
• ClinVar: improvements to accessing data
• ClinVar at five years: Delivering on the promise
• ClinVar: public archive of interpretations of clinically relevant variants
• ClinVar: improving access to variant interpretations and supporting evidence
• ClinVar: public archive of relationships among sequence variation and human phenotype

Data access

More information about ClinVar can be found at https://www.ncbi.nlm.nih.gov/clinvar/

To access ClinVar data, visit https://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/ or https://www.ncbi.nlm.nih.gov/projects/clinvar/ClinVarDataDictionary.pdf