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Items: 1 to 20 of 547

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6314766insertion1nstd102humanPathogenic GRCh37 chr12: 50,898,787-50,898,807 , GRCh38 chr12: 50,505,004-50,506,073 DIP2B
    nsv4730042insertion1nstd102humanPathogenic GRCh37 chr1: 57,832,716-57,832,797 , GRCh38.p12 chr1: 57,367,044-57,367,125 DAB1
    nsv7098697insertion3nstd102humanPathogenic GRCh38 chr4: 41,745,972-41,746,045 , GRCh37.p13 chr4: 41,747,989-41,748,062 PHOX2B
    nsv7093618insertion1nstd102humanPathogenic GRCh37 chr15: 45,393,454-45,393,454 , GRCh38 chr15: 45,101,256-45,101,256 DUOX2
    nsv7093617insertion1nstd102humanPathogenic GRCh37 chr15: 44,864,897-44,864,897 , GRCh38 chr15: 44,572,699-44,572,699 SPG11
    nsv7093616insertion1nstd102humanPathogenic GRCh37 chr15: 42,701,546-42,701,546 , GRCh38 chr15: 42,409,348-42,409,348 CAPN3
    nsv7093613insertion1nstd102humanPathogenic GRCh37 chr14: 68,260,426-68,260,426 , GRCh38 chr14: 67,793,709-67,793,709 ZFYVE26
    nsv7093610insertion1nstd102humanPathogenic GRCh37 chr15: 85,383,075-85,383,075 , GRCh38 chr15: 84,839,844-84,839,844 ALPK3
    nsv7093608insertion1nstd102humanPathogenic GRCh37 chr15: 51,829,782-51,829,782 , GRCh38 chr15: 51,537,585-51,537,585 DMXL2
    nsv7093607insertion1nstd102humanPathogenic GRCh37 chr15: 48,703,276-48,703,276 , GRCh38 chr15: 48,411,079-48,411,079 FBN1
    nsv7093600insertion1nstd102humanPathogenic GRCh37 chr17: 41,223,124-41,223,124 , GRCh38 chr17: 43,071,107-43,071,107 BRCA1
    nsv7093598insertion1nstd102humanPathogenic GRCh37 chr17: 29,665,135-29,665,135 , GRCh38 chr17: 31,338,117-31,338,117 NF1
    nsv7093597insertion1nstd102humanPathogenic GRCh37 chr17: 29,550,464-29,550,464 , GRCh38 chr17: 31,223,446-31,223,446 NF1
    nsv7093596insertion1nstd102humanPathogenic GRCh37 chr17: 29,508,744-29,508,744 , GRCh38 chr17: 31,181,726-31,181,726 NF1
    nsv7093595insertion1nstd102humanPathogenic GRCh37 chr19: 1,220,363-1,220,363 , GRCh38 chr19: 1,220,364-1,220,364 STK11
    nsv7093593insertion1nstd102humanPathogenic GRCh37 chr17: 78,186,024-78,186,024 , GRCh38 chr17: 80,212,225-80,212,225 SGSH
    nsv7093591insertion1nstd102humanPathogenic GRCh37 chr17: 42,333,054-42,333,054 , GRCh38 chr17: 44,255,686-44,255,686 SLC4A1
    nsv7093590insertion1nstd102humanPathogenic GRCh37 chr17: 41,245,818-41,245,818 , GRCh38 chr17: 43,093,801-43,093,801 BRCA1
    nsv7093585insertion1nstd102humanPathogenic GRCh37 chr19: 36,218,865-36,218,865 , GRCh38 chr19: 35,727,964-35,727,964 KMT2B
    nsv7093571insertion1nstd102humanPathogenic GRCh37 chrX: 38,145,378-38,145,378 , GRCh38 chrX: 38,286,125-38,286,125 RPGR
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