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Items: 3

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    Number of Variants: 3

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4685950copy number variation2nstd102humanPathogenic GRCh37 chr7: 6,013,174-6,029,430 , GRCh38.p12 chr7: 5,973,543-5,989,799 PMS2
    nsv3913545insertion2nstd102humanPathogenic GRCh37 chr7: 6,027,226-6,027,226 , GRCh38 chr7: 5,987,595-5,987,595 PMS2
    nsv1397896copy number variation1nstd45humanPathogenic GRCh37 chr7: 6,010,556-6,048,737 , GRCh38.p12 chr7: 5,970,925-6,009,106 PMS2, AIMP2, 1 more genes
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