Clinvar Database

🌐Community
by microck · vlatest · Repository

Access and query ClinVar variant data via a streamlined interface powered by microck's specialized AI.

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 microck-clinvar-database npx -- -y @trustedskills/microck-clinvar-database
2

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

~/.claude/settings.json
{
  "mcpServers": {
    "microck-clinvar-database": {
      "command": "npx",
      "args": [
        "-y",
        "@trustedskills/microck-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 the ClinVar database, a public archive of reports describing relationships among human genes, genetic variants and phenotypes. It allows you to query this data for specific variant information, gene associations, or clinical significance classifications. The tool can retrieve detailed records about genetic variations and their impact on health.

When to use it

  • Researching the clinical significance of a particular genetic variant.
  • Investigating genes associated with a specific disease or phenotype.
  • Understanding the reported pathogenicity of a novel genetic variation.
  • Validating findings from other genomic analyses against established ClinVar data.

Key capabilities

  • Query the ClinVar database by gene name.
  • Retrieve variant details, including allele frequency and clinical classifications.
  • Access reports describing relationships between genes, variants, and phenotypes.

Example prompts

  • "What is the clinical significance of rs1234567?"
  • "Show me all variants associated with the BRCA1 gene."
  • “Retrieve the allele frequency for variant c.123A>G in the population.”

Tips & gotchas

The ClinVar database contains a large amount of data, and query results can be extensive. Be specific with your prompts to narrow down the search and retrieve relevant information efficiently.

Tags

🛡️

TrustedSkills Verification

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Details

Version
vlatest
License
Author
microck
Installs
5

🌐 Community

Passed automated security scans.