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.
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infores:clinvar
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| 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... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| ubkg.neo4j | UBKG Neo4j Docker Distribution | ubkg-downloads.xconsortia.org | GraphProduct | ❔ | had primary source | Turnkey neo4j distributions that depl... |
| ubkg.csv | UBKG Ontology CSV Files | ubkg-downloads.xconsortia.org | GraphProduct | csv | had primary source | Ontology CSV files that can be import... |
| disgenet.data | DisGeNET Data | www.disgenet.com | GraphProduct | ❔ | had primary source | DisGeNET data, including gene to dise... |
| kg-monarch.graph | KGX Distribution of KG-Monarch | monarch-kg.tar.gz (220.2 MB) | GraphProduct | kgx | had primary source | KGX Distribution of KG-Monarch |
| kg-monarch.graph.jsonl | KGX JSON-L Distribution of KG-Monarch | monarch-kg.jsonl.tar.gz (301.0 MB) | GraphProduct | kgx-jsonl | had primary source | KGX JSON-Lines Distribution of KG-Mon... |
| kg-monarch.graph.rdf | RDF Distribution of KG-Monarch | monarch-kg.nt.gz (838.5 MB) | GraphProduct | rdfxml | had primary source | RDF Distribution of KG-Monarch |
| kg-monarch.graph.neo4j | Neo4j Dump of KG-Monarch | monarch-kg.neo4j.dump (1.3 GB) | GraphProduct | ❔ | had primary source | Neo4j Dump of KG-Monarch |
| kg-monarch.graph.duckdb | DuckDB database of KG-Monarch | monarch-kg.duckdb (6.4 GB) | GraphProduct | ❔ | had primary source | DuckDB database of KG-Monarch |
| pheknowlator.graph | PheKnowLator graph | knowledge_graphs?pageState=(%22StorageObjectListTable%22:(%22f%22:%22%255B%255D%22))&inv=1&invt=Ab5_1Q&project=pheknowlator | GraphProduct | owl | had primary source | PheKnowLator graph files, including s... |
| kg-monarch.graph.jsonl.edges | KGX JSON-L Distribution of KG-Monarch Edges | monarch-kg_edges.jsonl (14.2 GB) | GraphProduct | kgx-jsonl | had primary source | KGX JSON-Lines Distribution of KG-Mon... |
| kg-monarch.graph.jsonl.nodes | KGX JSON-L Distribution of KG-Monarch Nodes | monarch-kg_nodes.jsonl (1.1 GB) | GraphProduct | kgx-jsonl | had primary source | KGX JSON-Lines Distribution of KG-Mon... |
| kg-monarch.graph.neo4j.edges | Neo4j Dump of KG-Monarch Edges | monarch-kg_edges.neo4j.csv (4.1 GB) | GraphProduct | neo4j | had primary source | Neo4j Dump of KG-Monarch Edges |
| kg-monarch.graph.neo4j.nodes | Neo4j Dump of KG-Monarch Nodes | monarch-kg_nodes.neo4j.csv (333.4 MB) | GraphProduct | neo4j | had primary source | Neo4j Dump of KG-Monarch Nodes |
| genecards.disease.associations ⚠ | GeneCards Disease Associations | www.genecards.org | Product | http | had primary source | Disease association data integrated f... |
| genecards.variant.data ⚠ | GeneCards Variant Data | www.genecards.org | Product | http | had primary source | Genetic variant data from ClinVar, db... |
| prokn.clinvar.gene.associated_with.diseaseorphenotype.edges | ProKN ClinVar Association Edges | DDKG_CLINVAR.Gene.GENE_ASSOCIATED_WITH_DISEASE_OR_PHENOTYPE.DiseaseOrPhenotype.edges.csv (16.1 MB) | GraphProduct | csv | had primary source | ClinVar gene associated with disease/... |
| raras.portal | Raras Portal | raras.org | GraphicalInterface | http | was informed by | Main Raras portal for searching rare ... |
| raras.encyclopedia | Raras Encyclopedia | explorar | GraphicalInterface | http | was informed by | Rare disease encyclopedia for browsin... |
| petagraph.graph | Petagraph Knowledge Graph (Neo4J) | ubkg-downloads.xconsortia.org | GraphProduct | ❔ | had primary source | A comprehensive multi-omics biomedica... |
| pharmebinet.json | PharMeBINet JSON Release | content (1.8 GB) | GraphProduct | json | was derived from | PharMeBINet V2 JSON release published... |
| pharmebinet.tsv | PharMeBINet TSV Release | content (1.8 GB) | GraphProduct | tsv | was derived from | PharMeBINet V2 TSV release published ... |
| pharmebinet.graphml | PharMeBINet GraphML Release | content (1.9 GB) | GraphProduct | mixed | was derived from | PharMeBINet V2 GraphML release publis... |
| pharmebinet.neo4j | PharMeBINet Neo4j Database | content (3.6 GB) | GraphProduct | neo4j | was derived from | PharMeBINet V2 Neo4j database release... |
| pharmebinet.neo4j.dump | PharMeBINet Neo4j Dump | content (3.4 GB) | GraphProduct | neo4j | was derived from | PharMeBINet V2 Neo4j dump release pub... |
| litvar.web_interface | LitVar Web Interface | litvar2 | GraphicalInterface | http | was informed by | Web interface for searching and retri... |
| litvar.api | LitVar API | litvar2-api | ProgrammingInterface | http | was informed by | RESTful API providing programmatic ac... |
| activedriverdb.downloads | ActiveDriverDB Downloads | download | Product | ❔ | was derived from | Bulk downloadable ActiveDriverDB data... |
| harmonizome.downloads | Harmonizome Downloads | download | Product | mixed | was derived from | Harmonizome 3.0 processed dataset dow... |
| harmonizome.kg-neo4j | Harmonizome Knowledge Graph Neo4j Database | harmonizome-kg.maayanlab.cloud | GraphProduct | neo4j | was derived from | Neo4j knowledge graph serialization o... |
ClinVar is a freely accessible, public archive maintained by the National Center for Biotechnology Information (NCBI) that catalogs the relationships between human genetic variations and phenotypes, with supporting evidence. It serves as a critical resource for the clinical genetics community by providing a centralized repository of variant interpretations and their clinical significance.
ClinVar collects, curates, and distributes information about:
The database integrates submissions from clinical testing laboratories, research groups, expert panels, and professional societies, making it a comprehensive resource for variant interpretation in clinical settings.
ClinVar contains data on variants across the entire human genome, including:
ClinVar accepts submissions for variants identified through various methods, including clinical testing, research, and literature curation. It does not include GWAS data or variants observed but not classified.
ClinVar data is available through multiple channels:
The data is updated weekly on the website, with comprehensive monthly releases available for download on the first Thursday of each month.
ClinVar works closely with the ClinGen project and other initiatives to improve the quality and interpretation of genomic variants. It provides data exchange mechanisms with numerous resources, including:
As a vital component of the clinical genomics ecosystem, ClinVar continuously evolves to meet the needs of the genetics community and support the implementation of precision medicine.
Created: June 04, 2025 | Last modified: February 20, 2026