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  • Determining clinical significance of variants

    Hi, I'm working with human exome samples. I'm hoping to pick out any mutations that have been previously reported as clinically significant, but I'm not sure which online databases or annotation tracks are the best to use for this. OMIM was my first guess, but their FAQ states that they don't list all known function-altering allelic variants. Any suggestions? (Sorry if this is a newbie question)

  • #2
    Another starting point is GeneTests
    Centralized resource for clinical geneticists, genetic counselors and other healthcare professionals to find clinical and research, molecular, cytogenetic, biochemical and serology tests for human health and Mendelian disorders, pharmacogenetic drug responses, somatic phenotypes, complex conditions and infectious diseases like COVID-19. There is information about the disease, genes and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB to support the clinician's informed test selection.

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    • #3
      You could try looking at the NHLBI Exome Variant Server and also look for SNPs from PharmGKB as a starting point.

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