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:
- GeneReviews®: an expert-authored book with individual chapters dedicated to individual genetic diseases; encompassing diagnosis, management, and genetic counseling
- Online Mendelian Inheritance in Man® (OMIM): an online catalog with records on disorders, associated genes, and allelic variants
- biomedical literature databases at NCBI: PubMed, PubMed Clinical Queries, and PubMed Central® (PMC)
- link to the associated molecular databases' records and tools for variants of your interest:
- the dbSNP and dbVar variation databases
- graphic representation of variants in genome browsers such as Variation Viewer
- the associated gene(s) information in the NCBI Gene database