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Items: 1 to 20 of 1000

1.

rs1491422335 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    20:32718412 (GRCh38)
    20:31306214 (GRCh37)
    Canonical SPDI:
    NC_000020.11:32718411:AG:
    Gene:
    COMMD7 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency
    MAF:
    -=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1491369528 has merged into rs200988856 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
      Chromosome:
      20:32741405 (GRCh38)
      20:31329210 (GRCh37)
      Canonical SPDI:
      NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:32741395:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
      Gene:
      COMMD7 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      3.

      rs1491361346 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        20:32710728 (GRCh38)
        20:31298530 (GRCh37)
        Canonical SPDI:
        NC_000020.11:32710727:CA:
        Gene:
        COMMD7 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.01399/166 (ALFA)
        -=0.00106/30 (TOMMO)
        HGVS:
        4.

        rs1491348866 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATATATATATA [Show Flanks]
          Chromosome:
          20:32705377 (GRCh38)
          20:31293180 (GRCh37)
          Canonical SPDI:
          NC_000020.11:32705377::A,NC_000020.11:32705377::ATA,NC_000020.11:32705377::ATATA,NC_000020.11:32705377::ATATATA,NC_000020.11:32705377::ATATATATA,NC_000020.11:32705377::ATATATATATATATATATA
          Gene:
          COMMD7 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ATA=0./0 (ALFA)
          A=0.00472/79 (TOMMO)
          HGVS:
          5.

          rs1491333198 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AT>- [Show Flanks]
            Chromosome:
            20:32735243 (GRCh38)
            20:31323051 (GRCh37)
            Canonical SPDI:
            NC_000020.11:32735242:AT:
            Gene:
            COMMD7 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.00008/1 (ALFA)
            -=0.00011/3 (TOMMO)
            -=0.00016/1 (1000Genomes)
            -=0.00027/24 (GnomAD)
            HGVS:
            6.

            rs1491319984 has merged into rs1333666034 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              G>-,GG [Show Flanks]
              Chromosome:
              20:32718413 (GRCh38)
              20:31306215 (GRCh37)
              Canonical SPDI:
              NC_000020.11:32718412:GGGGGG:GGGGG,NC_000020.11:32718412:GGGGGG:GGGGGGG
              Gene:
              COMMD7 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GGGGGGG=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000389/7 (TOMMO)
              -=0.000583/80 (GnomAD)
              HGVS:
              7.

              rs1491292916 has merged into rs60023181 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA [Show Flanks]
                Chromosome:
                20:32709411 (GRCh38)
                20:31297213 (GRCh37)
                Canonical SPDI:
                NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:32709399:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
                Gene:
                COMMD7 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
                AA=0.3894/1950 (1000Genomes)
                HGVS:
                8.

                rs1491257628 has merged into rs200183828 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  20:32705383 (GRCh38)
                  20:31293185 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:32705376:TTTTTTTTTTT:TTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:32705376:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT
                  Gene:
                  COMMD7 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTT=0./0 (ALFA)
                  -=0.4547/271 (NorthernSweden)
                  HGVS:
                  9.

                  rs1491255967 has merged into rs34360055 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AA>-,A,AAA,AAAA [Show Flanks]
                    Chromosome:
                    20:32741166 (GRCh38)
                    20:31328972 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:32741158:AAAAAAAAA:AAAAAAA,NC_000020.11:32741158:AAAAAAAAA:AAAAAAAA,NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAA,NC_000020.11:32741158:AAAAAAAAA:AAAAAAAAAAA
                    Gene:
                    COMMD7 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAA=0.09215/871 (ALFA)
                    A=0.296233/173 (NorthernSweden)
                    -=0.42107/111453 (TOPMED)
                    A=0.4375/2191 (1000Genomes)
                    HGVS:
                    10.

                    rs1491229701 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CT [Show Flanks]
                      Chromosome:
                      20:32741396 (GRCh38)
                      20:31329203 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:32741396:T:TCT
                      Gene:
                      COMMD7 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TCT=0./0 (ALFA)
                      TC=0.00008/1 (GnomAD)
                      HGVS:
                      11.

                      rs1491201122 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        20:32709399 (GRCh38)
                        20:31297201 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:32709398:CA:
                        Gene:
                        COMMD7 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491192884 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->AAAT [Show Flanks]
                          Chromosome:
                          20:32735243 (GRCh38)
                          20:31323051 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:32735243::AAAT
                          Gene:
                          COMMD7 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          AAAT=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491178048 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CAA,CAAACAA [Show Flanks]
                            Chromosome:
                            20:32741159 (GRCh38)
                            20:31328958 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:32741159:AA:AACAA,NC_000020.11:32741159:AA:AACAAACAA
                            Gene:
                            COMMD7 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AACAAACAA=0./0 (ALFA)
                            AAC=0.00465/209 (GnomAD)
                            HGVS:
                            14.

                            rs1491036860 has merged into rs373468047 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              A>-,AA,AAA [Show Flanks]
                              Chromosome:
                              20:32723045 (GRCh38)
                              20:-1 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:32723044:AAA:AA,NC_000020.11:32723044:AAA:AAAA,NC_000020.11:32723044:AAA:AAAAA
                              Gene:
                              COMMD7 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AA=0.00048/6 (ALFA)
                              AA=0.00269/3 (Korea1K)
                              -=0.01667/10 (NorthernSweden)
                              HGVS:
                              15.

                              rs1491017115 has merged into rs34447587 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
                                Chromosome:
                                20:32712618 (GRCh38)
                                20:31300420 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:32712612:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
                                Gene:
                                COMMD7 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAA=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                A=0.257188/1288 (1000Genomes)
                                HGVS:
                                16.

                                rs1491006359 has merged into rs386393633 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  20:32702423 (GRCh38)
                                  20:31290225 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:32702409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  COMMD7 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAAAA=0./0 (ALFA)
                                  HGVS:
                                  NC_000020.11:g.32702423_32702427del, NC_000020.11:g.32702424_32702427del, NC_000020.11:g.32702425_32702427del, NC_000020.11:g.32702426_32702427del, NC_000020.11:g.32702427del, NC_000020.11:g.32702427dup, NC_000020.11:g.32702426_32702427dup, NC_000020.11:g.32702425_32702427dup, NC_000020.11:g.32702424_32702427dup, NC_000020.11:g.32702423_32702427dup, NC_000020.11:g.32702421_32702427dup, NC_000020.11:g.32702416_32702427dup, NC_000020.10:g.31290225_31290229del, NC_000020.10:g.31290226_31290229del, NC_000020.10:g.31290227_31290229del, NC_000020.10:g.31290228_31290229del, NC_000020.10:g.31290229del, NC_000020.10:g.31290229dup, NC_000020.10:g.31290228_31290229dup, NC_000020.10:g.31290227_31290229dup, NC_000020.10:g.31290226_31290229dup, NC_000020.10:g.31290225_31290229dup, NC_000020.10:g.31290223_31290229dup, NC_000020.10:g.31290218_31290229dup
                                  17.

                                  rs1490972094 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    20:32740047 (GRCh38)
                                    20:31327854 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:32740046:G:A
                                    Gene:
                                    COMMD7 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490934487 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      20:32745364 (GRCh38)
                                      20:31333170 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:32745363:G:T
                                      Gene:
                                      COMMD7 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.00304/86 (TOMMO)
                                      T=0.00656/12 (Korea1K)
                                      T=0.0775/226 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1490883627 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        20:32703815 (GRCh38)
                                        20:31291617 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:32703814:G:A
                                        Gene:
                                        COMMD7 (Varview)
                                        Functional Consequence:
                                        intron_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490768527 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C,G [Show Flanks]
                                          Chromosome:
                                          20:32717880 (GRCh38)
                                          20:31305682 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:32717879:T:C,NC_000020.11:32717879:T:G
                                          Gene:
                                          COMMD7 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          G=0.005479/16 (KOREAN)
                                          HGVS:

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