Variant Annotation

Query and interpret gene variant clinical significance from ClinVar and dbSNP databases with ACMG guideline support.

Purpose

Provide comprehensive variant annotation including:

• Clinical significance classification (Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign)
• ACMG guideline-based pathogenicity assessment
• Population allele frequencies (gnomAD, ExAC, 1000 Genomes)
• Disease and phenotype associations
• Functional predictions (SIFT, PolyPhen, CADD)

Supported Input Formats