alterlab-clinvar
From the author
Query NCBI ClinVar via the E-utilities API or FTP for the clinical significance (pathogenicity) of human germline genetic variants, searching by gene, variant, condition, or genomic position and interpreting ACMG/AMP classifications and review-status star ratings. Use when assessing whether a variant is pathogenic, likely pathogenic, VUS, likely benign, or benign, resolving conflicting interpretations, or annotating a VCF with ClinVar clinical significance. For population allele frequencies by ancestry use alterlab-gnomad; for somatic cancer mutation frequencies use alterlab-cosmic. Part of the AlterLab Academic Skills suite.
Install
npx skills add AlterLab-IEU/AlterLab-Academic-Skills --skill alterlab-clinvar -a claude-code
Installs to .claude/skills/alterlab-clinvar/ · Each command fetches the skill straight from GitHub with the open skills CLI.
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Similar skills
Closest to this one by what they do and when they are used.
- clinvar-databasejaechang-hits/SciAgent-SkillsQuery NCBI ClinVar via E-utilities for variant clinical significance, pathogenicity, disease associations. Search by gene/rsID/condition/review status; returns ClinSig, submitter data, conditions, HGVS. For GWAS use gwas-database; for variant consequence prediction use Ensembl VEP.Data★ 383
- alterlab-cosmicAlterLab-IEU/AlterLab-Academic-SkillsAccess the COSMIC catalogue of somatic mutations in cancer to query somatic mutations, the Cancer Gene Census, mutational signatures, and gene fusions (authentication required). Use when curating known cancer driver genes, looking up recurrent somatic mutations in a gene, or interpreting mutational signatures for cancer research and precision oncology. Not for germline pathogenicity calls (use alterlab-clinvar) or interactive cohort visualization like OncoPrints and survival from study data (use alterlab-cbioportal). Part of the AlterLab Academic Skills suite.Science★ 78
- genomic-variant-interpretationawslabs/hcls-agent-skillsReason about germline and somatic variant classification using ACMG/AMP 2015 and AMP/ASCO/CAP frameworks. Use when the user asks to classify a variant, interpret a VCF annotation, resolve a VUS, apply ACMG criteria, weigh ClinVar evidence, evaluate gnomAD allele frequencies, interpret REVEL/CADD/SpliceAI scores, decide whether PVS1 applies, or assess gene-disease validity before reporting. Triggers include "ACMG", "variant classification", "pathogenic", "likely pathogenic", "VUS", "benign", "ClinVar", "gnomAD", "REVEL", "CADD", "SpliceAI", "PVS1", "loss of function", "nonsense variant", "missense interpretation", "splice variant", "filtering allele frequency", "ClinGen", "somatic variant tier".Science★ 66
- alterlab-clinicaltrialsAlterLab-IEU/AlterLab-Academic-SkillsQuery ClinicalTrials.gov via its API v2 to search trials by condition, drug, location, recruitment status, or phase and retrieve trial details by NCT ID. Use when finding interventional or observational studies, checking trial status and eligibility for patient matching, or exporting clinical trial records for research. Part of the AlterLab Academic Skills suite.Science★ 78
- alterlab-gnomadAlterLab-IEU/AlterLab-Academic-SkillsQuery gnomAD (Genome Aggregation Database) for population allele frequencies and gene constraint scores (pLI, LOEUF) reflecting loss-of-function intolerance. Use when checking how common a variant is across populations, filtering rare-disease candidate variants, assessing variant pathogenicity, or identifying loss-of-function intolerant genes. Part of the AlterLab Academic Skills suite.Data★ 78
- alterlab-clinpgxAlterLab-IEU/AlterLab-Academic-SkillsAccess ClinPGx pharmacogenomics data (the successor to PharmGKB) to query gene-drug interactions, CPIC/DPWG dosing guidelines, drug labels, and pharmacogene records. Use when interpreting pharmacogenes (CYP2D6, CYP2C19, TPMT, DPYD, SLCO1B1), looking up genotype-guided drug dosing, checking PGx drug-safety associations (e.g. HLA-B*57:01 and abacavir), or supporting precision medicine and clinical pharmacogenomics decisions. For star-allele definitions/frequencies see PharmVar; for germline/somatic variant pathogenicity see alterlab-clinvar. Part of the AlterLab Academic Skills suite.Science★ 78
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