clinvar-database
ClinVar
Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.
This page mirrors an upstream repository entry. It does not mean the skill is already part of the SCI Skills curated catalog.
- Raw path
- scientific-skills/clinvar-database
- Allowed tools
- -
- Repository version
- 2.31.0
- Synced at
- March 27, 2026
About this skill
About this skill
ClinVar is NCBI's freely accessible archive of reports on relationships between human genetic variants and phenotypes, with supporting evidence. The database aggregates information about genomic variation and its relationship to human health, providing standardized variant classifications used in clinical genetics and research.
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