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Items: 1 to 20 of 223

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6129313insertion1nstd186human GRCh37 chr14: 57,668,227-57,668,262 , GRCh38.p12 chr14: 57,201,509-57,201,544 EXOC5
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5976259insertion1nstd209human GRCh38 chr14: 57,262,745-57,262,745 , GRCh37.p13 chr14: 57,729,463-57,729,463 EXOC5
    nsv5942479copy number variation1nstd209human GRCh38 chr14: 57,213,125-57,213,291 , GRCh37.p13 chr14: 57,679,843-57,680,009 EXOC5
    nsv5938835copy number variation1nstd209human GRCh38 chr14: 50,842,894-59,394,609 , GRCh37.p13 chr14: 51,309,612-59,861,327 , TMX1, 148 more genes
    nsv5698329mobile element insertion1nstd211human GRCh38 chr14: 57,199,102-57,199,102 , GRCh37.p13 chr14: 57,665,820-57,665,820 EXOC5
    nsv5657908insertion1nstd207human GRCh38 chr14: 57,262,745-57,262,745 , GRCh37.p13 chr14: 57,729,463-57,729,463 EXOC5
    nsv5651969insertion1nstd207human GRCh38 chr14: 57,213,125-57,213,125 , GRCh37.p13 chr14: 57,679,843-57,679,843 EXOC5
    nsv5584763copy number variation1nstd207human GRCh38 chr14: 57,222,727-57,222,780 , GRCh37.p13 chr14: 57,689,445-57,689,498 EXOC5
    nsv5560800sequence alteration1nstd206human GRCh38 chr14: 57,254,467-57,254,468 , GRCh37.p13 chr14: 57,721,185-57,721,186 EXOC5
    nsv5548403insertion1nstd206human GRCh38 chr14: 57,201,509-57,201,544 , GRCh37.p13 chr14: 57,668,227-57,668,262 EXOC5
    nsv5541800insertion1nstd206human GRCh38 chr14: 57,254,467-57,254,467 , GRCh37.p13 chr14: 57,721,185-57,721,185 EXOC5
    nsv5538677insertion1nstd206human GRCh38 chr14: 57,234,510-57,234,533 , GRCh37.p13 chr14: 57,701,228-57,701,251 EXOC5
    nsv5506517copy number variation1nstd206human GRCh38 chr14: 57,213,125-57,213,293 , GRCh37.p13 chr14: 57,679,843-57,680,011 EXOC5
    nsv5155213mobile element insertion1nstd203human GRCh38 chr14: 57,199,872-57,199,879 , GRCh37.p13 chr14: 57,666,590-57,666,597 EXOC5
    nsv5151223mobile element insertion1nstd203human GRCh38 chr14: 57,265,724-57,265,740 , GRCh37.p13 chr14: 57,732,442-57,732,458 EXOC5
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv4721737insertion1nstd186human GRCh37 chr14: 57,729,437-57,729,437 , GRCh38.p12 chr14: 57,262,719-57,262,719 EXOC5
    nsv4675883copy number variation1nstd102humanPathogenic GRCh37 chr14: 55,615,073-58,043,694 , GRCh38.p12 chr14: 55,148,355-57,576,976 FBXO34-AS1, FBXO34, 39 more genes
    nsv4674918copy number variation1nstd102humanPathogenic GRCh37 chr14: 56,605,398-59,404,256 , GRCh38.p12 chr14: 56,138,680-58,937,538 RNU6-1204P, LOC440180, 42 more genes
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