ClinVar is one of the three NCBI databases that are intended for healthcare professionals and researchers who are focusing on genetic disease. It contains information about genomic variations and their relationships to human health. Search ClinVar to:

  • find genomic variants and the disease(s) for which the variant or set of variants was interpreted
  • find phenotype(s) reported for individuals with the variant or set of variants
  • filter the listing of the retrieved variants based on their molecular characteristics, such as variation type and length, and its molecular consequence
  • examine reported clinical significance of each variant
  • assess information on quality and consistency of interpretations of each variant's effect
  • link to the related information in MedGen and GTR
  • access several related literature and/or clinical resources:
  • link to the associated molecular databases' records and tools for variants of your interest:
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