clinvar

is a Data Source.

ClinVar is a freely accessible, public archive of reports of human genetic variations and their relationships to human health. It collects and presents data on variants found in patient samples, classifications for diseases and drug responses, and supporting evidence. ClinVar enables access to and communication about the clinical significance of genetic variants, providing healthcare professionals, researchers, and the public with vital information for interpreting genetic test results.

Domains

biomedical, genomics, clinical, precision medicine, health, translational

Homepage

clinvar

Repository

Unknown

Infores ID

Unknown

FAIRsharing ID

Unknown

Products

From this Resource
ID Name URL Category Format Description
clinvar.xml ClinVar XML xml Product xml Complete public data set in XML forma...
clinvar.vcf.grch37 ClinVar VCF (GRCh37) vcf_GRCh37 Product vcf ClinVar data in VCF format for GRCh37...
clinvar.vcf.grch38 ClinVar VCF (GRCh38) vcf_GRCh38 Product vcf ClinVar data in VCF format for GRCh38...
clinvar.tab ClinVar Tab-Delimited Files tab_delimited Product tsv Tab-delimited files summarizing varia...
clinvar.api ClinVar API (E-utilities) maintenance_use ProgrammingInterface http API access to ClinVar data through NC...
clinvar.web ClinVar Web Interface clinvar GraphicalInterface http Web interface for searching and brows...
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