clinvar-database

SKILL.md

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.

Search ClinVar using the web interface at https://www.ncbi.nlm.nih.gov/clinvar/

Access ClinVar programmatically using NCBI's E-utilities API. Refer to references/apireference.md for comprehensive API documentation including:

Interrogez NCBI ClinVar pour connaître la signification clinique des variantes. Recherche par gène/position, interprétation des classifications de pathogénicité, accès via E-utilities API ou FTP, annotation des VCF, pour la médecine génomique. Source : microck/ordinary-claude-skills.

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