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Items: 1 to 20 of 1000

1.

rs1491526691 has merged into rs1396163611 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AT>-,ATAT [Show Flanks]
    Chromosome:
    5:138195770 (GRCh38)
    5:137531459 (GRCh37)
    Canonical SPDI:
    NC_000005.10:138195764:TATATAT:TATAT,NC_000005.10:138195764:TATATAT:TATATATAT
    Gene:
    CDC23 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TATATATAT=0./0 (ALFA)
    -=0.00014/2 (TOMMO)
    HGVS:
    2.

    rs1491510719 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->C
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491484332 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TT>- [Show Flanks]
        Chromosome:
        5:138195598 (GRCh38)
        5:137531287 (GRCh37)
        Canonical SPDI:
        NC_000005.10:138195597:TT:
        Gene:
        CDC23 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.00008/6 (GnomAD)
        -=0.00968/158 (TOMMO)
        HGVS:
        4.

        rs1491430269 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TT>- [Show Flanks]
          Chromosome:
          5:138195764 (GRCh38)
          5:137531453 (GRCh37)
          Canonical SPDI:
          NC_000005.10:138195763:TT:
          Gene:
          CDC23 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:
          5.

          rs1491301740 has merged into rs905919467 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            5:138206888 (GRCh38)
            5:137542577 (GRCh37)
            Canonical SPDI:
            NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138206878:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            CDC23 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            HGVS:
            NC_000005.10:g.138206888_138206897del, NC_000005.10:g.138206891_138206897del, NC_000005.10:g.138206892_138206897del, NC_000005.10:g.138206893_138206897del, NC_000005.10:g.138206894_138206897del, NC_000005.10:g.138206895_138206897del, NC_000005.10:g.138206896_138206897del, NC_000005.10:g.138206897del, NC_000005.10:g.138206897dup, NC_000005.10:g.138206896_138206897dup, NC_000005.10:g.138206895_138206897dup, NC_000005.10:g.138206894_138206897dup, NC_000005.10:g.138206893_138206897dup, NC_000005.10:g.138206892_138206897dup, NC_000005.9:g.137542577_137542586del, NC_000005.9:g.137542580_137542586del, NC_000005.9:g.137542581_137542586del, NC_000005.9:g.137542582_137542586del, NC_000005.9:g.137542583_137542586del, NC_000005.9:g.137542584_137542586del, NC_000005.9:g.137542585_137542586del, NC_000005.9:g.137542586del, NC_000005.9:g.137542586dup, NC_000005.9:g.137542585_137542586dup, NC_000005.9:g.137542584_137542586dup, NC_000005.9:g.137542583_137542586dup, NC_000005.9:g.137542582_137542586dup, NC_000005.9:g.137542581_137542586dup
            6.

            rs1491257748 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->ATA [Show Flanks]
              Chromosome:
              5:138191964 (GRCh38)
              5:137527654 (GRCh37)
              Canonical SPDI:
              NC_000005.10:138191964::ATA
              Gene:
              CDC23 (Varview)
              Functional Consequence:
              intron_variant
              HGVS:
              7.

              rs1491230233 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->CA [Show Flanks]
                Chromosome:
                5:138195690 (GRCh38)
                5:137531380 (GRCh37)
                Canonical SPDI:
                NC_000005.10:138195690:A:ACA
                Gene:
                CDC23 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                ACA=0./0 (ALFA)
                HGVS:
                8.

                rs1491201666 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AA>- [Show Flanks]
                  Chromosome:
                  5:138195690 (GRCh38)
                  5:137531379 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:138195689:AA:
                  Gene:
                  CDC23 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000029/3 (GnomAD)
                  HGVS:
                  9.

                  rs1491199387 has merged into rs1283248779 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AT>-,ATAT [Show Flanks]
                    Chromosome:
                    5:138195604 (GRCh38)
                    5:137531293 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:138195598:TATATAT:TATAT,NC_000005.10:138195598:TATATAT:TATATATAT
                    Gene:
                    CDC23 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TATATATAT=0./0 (ALFA)
                    -=0.00004/1 (TOMMO)
                    HGVS:
                    10.

                    rs1491181034 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      GC>- [Show Flanks]
                      Chromosome:
                      5:138191964 (GRCh38)
                      5:137527653 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:138191963:GC:
                      Gene:
                      CDC23 (Varview)
                      Functional Consequence:
                      intron_variant
                      HGVS:
                      11.

                      rs1491049932 has merged into rs71585106 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        5:138204635 (GRCh38)
                        5:137540324 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:138204629:TTTTTTT:TTTTT,NC_000005.10:138204629:TTTTTTT:TTTTTTTT,NC_000005.10:138204629:TTTTTTT:TTTTTTTTTT,NC_000005.10:138204629:TTTTTTT:TTTTTTTTTTT,NC_000005.10:138204629:TTTTTTT:TTTTTTTTTTTT,NC_000005.10:138204629:TTTTTTT:TTTTTTTTTTTTT,NC_000005.10:138204629:TTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:138204629:TTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:138204629:TTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:138204629:TTTTTTT:TTTTTTTTTTTTTTTTTTT
                        Gene:
                        CDC23 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTT=0./0 (ALFA)
                        TTTTTTT=0.475/19 (GENOME_DK)
                        -=0.5/4 (KOREAN)
                        HGVS:
                        NC_000005.10:g.138204635_138204636del, NC_000005.10:g.138204636dup, NC_000005.10:g.138204634_138204636dup, NC_000005.10:g.138204633_138204636dup, NC_000005.10:g.138204632_138204636dup, NC_000005.10:g.138204631_138204636dup, NC_000005.10:g.138204630_138204636dup, NC_000005.10:g.138204636_138204637insTTTTTTTT, NC_000005.10:g.138204636_138204637insTTTTTTTTT, NC_000005.10:g.138204636_138204637insTTTTTTTTTTTT, NC_000005.9:g.137540324_137540325del, NC_000005.9:g.137540325dup, NC_000005.9:g.137540323_137540325dup, NC_000005.9:g.137540322_137540325dup, NC_000005.9:g.137540321_137540325dup, NC_000005.9:g.137540320_137540325dup, NC_000005.9:g.137540319_137540325dup, NC_000005.9:g.137540325_137540326insTTTTTTTT, NC_000005.9:g.137540325_137540326insTTTTTTTTT, NC_000005.9:g.137540325_137540326insTTTTTTTTTTTT
                        12.

                        rs1490854401 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          5:138207691 (GRCh38)
                          5:137543380 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:138207690:A:G
                          Gene:
                          CDC23 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          G=0.000035/1 (TOMMO)
                          HGVS:
                          13.

                          rs1490642503 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            5:138198538 (GRCh38)
                            5:137534227 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:138198537:T:C
                            Gene:
                            CDC23 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490545944 has merged into rs1165999814 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              5:138197507 (GRCh38)
                              5:137533196 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:138197495:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:138197495:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:138197495:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:138197495:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:138197495:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:138197495:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138197495:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:138197495:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              CDC23 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1490503256 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                T>C
                                Chromosome:
                                no mapping
                                Canonical SPDI:
                                16.

                                rs1490466833 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  5:138195622 (GRCh38)
                                  5:137531311 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:138195621:A:T
                                  Gene:
                                  CDC23 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000019/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490363586 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    5:138207068 (GRCh38)
                                    5:137542757 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:138207067:T:C
                                    Gene:
                                    CDC23 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490336468 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      5:138200866 (GRCh38)
                                      5:137536555 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:138200865:T:A
                                      Gene:
                                      CDC23 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490323107 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        5:138199635 (GRCh38)
                                        5:137535324 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:138199634:G:C
                                        Gene:
                                        CDC23 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490303976 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          5:138194920 (GRCh38)
                                          5:137530609 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:138194919:C:T
                                          Gene:
                                          CDC23 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000142/2 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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