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Items: 14

  • The following terms were not found in dbVar: formylpyridoxal, 5'.
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    Number of Variants: 14

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096394copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,421,433-211,473,293 , GRCh38.p12 chr2: 210,556,709-210,608,569 CPS1
    nsv7096232copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,507,198-211,515,172 , GRCh38.p12 chr2: 210,642,474-210,650,448 CPS1
    nsv7096128copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,469,816-211,477,027 , GRCh38.p12 chr2: 210,605,092-210,612,303 CPS1
    nsv6311633copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,512,577-211,513,274 , GRCh38.p12 chr2: 210,647,853-210,648,550 CPS1
    nsv5673215copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,421,433-211,421,593 , GRCh38.p12 chr2: 210,556,709-210,556,869 CPS1
    nsv7096606copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,456,088-211,479,828 , GRCh38.p12 chr2: 210,591,364-210,615,104 CPS1
    nsv6315283copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 211,507,390-211,513,223 , GRCh38.p12 chr2: 210,642,666-210,648,499 CPS1
    nsv7093050copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 211,523,321-211,524,166 , GRCh38 chr2: 210,658,597-210,659,442 CPS1
    nsv6311368copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 211,454,820-211,455,640 , GRCh38.p12 chr2: 210,590,096-210,590,916 CPS1
    nsv4683418copy number variation1nstd102humanUncertain significance GRCh37 chr2: 211,523,303-211,542,729 , GRCh38.p12 chr2: 210,658,579-210,678,005 CPS1
    nsv7096231copy number variation1nstd102humanUncertain significance GRCh37 chr2: 211,503,854-211,503,959 , GRCh38.p12 chr2: 210,639,130-210,639,235 CPS1
    nsv5673376copy number variation1nstd102humanPathogenic GRCh37 chr2: 211,441,050-211,542,729 , GRCh38.p12 chr2: 210,576,326-210,678,005 CPS1, CPS1-IT1
    nsv7096192copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 211,436,160-211,541,748 , GRCh38.p12 chr2: 210,571,436-210,677,024 CPS1, CPS1-IT1
    nsv7096605copy number variation1nstd102humanUncertain significance GRCh37 chr2: 211,421,458-211,542,709 , GRCh38.p12 chr2: 210,556,734-210,677,985 CPS1, CPS1-IT1
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