デバッグ
Variant Annotation
Query and annotate gene variants from ClinVar and dbSNP databases.
Trigger when:
- User provides a variant identifier (rsID, HGVS notation, genomic coordinates) and asks about clinical significance
- User mentions "ClinVar", "dbSNP", "variant annotation", "pathogenicity", "clinical significance"
- User wants to know if a mutation is pathogenic, benign, or of uncertain significance
- User provides VCF content or variant data requiring interpretation
- Input: variant ID (rs12345), HGVS notation (NM_007294.3:c.5096G>A), or genomic coordinates (chr17:43094692:G>A)
- Output: clinical significance, ACMG classification, allele frequency, disease associations