Clinvar Database

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by k-dense-ai · vlatest · Repository

Helps with AI, database as part of working with databases and data persistence workflows.

Install on your platform

We auto-selected Claude Code based on this skill’s supported platforms.

1

Run in terminal (recommended)

terminal
claude mcp add k-dense-ai-clinvar-database npx -- -y @trustedskills/k-dense-ai-clinvar-database
2

Or manually add to ~/.claude/settings.json

~/.claude/settings.json
{
  "mcpServers": {
    "k-dense-ai-clinvar-database": {
      "command": "npx",
      "args": [
        "-y",
        "@trustedskills/k-dense-ai-clinvar-database"
      ]
    }
  }
}

Requires Claude Code (claude CLI). Run claude --version to verify your install.

About This Skill

What it does

This skill provides access to and querying capabilities of the ClinVar database, a public archive of reports of relationships among human genes, genetic variants and phenotypes. It allows users to retrieve variant information, including classifications, clinical significance assessments, and associated publications. The skill can be used for research, diagnostics, or understanding genetic conditions.

When to use it

  • Investigating the clinical significance of a specific genetic variant.
  • Identifying genes associated with a particular phenotype or disease.
  • Researching the prevalence of variants in different populations.
  • Exploring publications related to specific genetic variations.

Key capabilities

  • Variant retrieval by name, chromosome position, or gene symbol.
  • Access to clinical significance classifications (e.g., pathogenic, likely pathogenic).
  • Retrieval of associated phenotypes and disease names.
  • Links to relevant publications and external resources.

Example prompts

  • "What is the clinical significance of variant rs1234567?"
  • "Find all variants in gene BRCA1 that are classified as pathogenic."
  • "Show me publications related to the variant associated with cystic fibrosis."

Tips & gotchas

The ClinVar database contains a large amount of data, and query results can be extensive. Be specific with your queries to narrow down the results and improve efficiency.

Tags

🛡️

TrustedSkills Verification

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Details

Version
vlatest
License
Author
k-dense-ai
Installs
7

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Passed automated security scans.