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Items: 1 to 20 of 152

1.

rs1490089910 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    7:26206472 (GRCh38)
    7:26246092 (GRCh37)
    Canonical SPDI:
    NC_000007.14:26206471:G:A
    Gene:
    CBX3 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000012/3 (GnomAD_exomes)
    A=0.000019/5 (TOPMED)
    HGVS:
    2.

    rs1489953606 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      7:26206499 (GRCh38)
      7:26246119 (GRCh37)
      Canonical SPDI:
      NC_000007.14:26206498:G:A
      Gene:
      CBX3 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1478314429 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        7:26206493 (GRCh38)
        7:26246113 (GRCh37)
        Canonical SPDI:
        NC_000007.14:26206492:G:A
        Gene:
        CBX3 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000048/1 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1478160574 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          7:26208483 (GRCh38)
          7:26248103 (GRCh37)
          Canonical SPDI:
          NC_000007.14:26208482:A:G
          Gene:
          CBX3 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1474536337 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            7:26212186 (GRCh38)
            7:26251806 (GRCh37)
            Canonical SPDI:
            NC_000007.14:26212185:G:T
            Gene:
            CBX3 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            T=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1456340438 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:26211737 (GRCh38)
              7:26251357 (GRCh37)
              Canonical SPDI:
              NC_000007.14:26211736:T:C
              Gene:
              CBX3 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.
              8.

              rs1448262968 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                7:26206385 (GRCh38)
                7:26246005 (GRCh37)
                Canonical SPDI:
                NC_000007.14:26206384:A:G
                Gene:
                CBX3 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000014/2 (GnomAD)
                HGVS:
                9.

                rs1444844900 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  7:26211688 (GRCh38)
                  7:26251308 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:26211687:A:G
                  Gene:
                  CBX3 (Varview)
                  Functional Consequence:
                  missense_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  10.

                  rs1443215087 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    7:26208493 (GRCh38)
                    7:26248113 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:26208492:A:G
                    Gene:
                    CBX3 (Varview)
                    Functional Consequence:
                    missense_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    11.

                    rs1441844967 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      7:26208425 (GRCh38)
                      7:26248045 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:26208424:T:C
                      Gene:
                      CBX3 (Varview)
                      Functional Consequence:
                      missense_variant,intron_variant,coding_sequence_variant
                      HGVS:
                      12.

                      rs1433837547 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        7:26208504 (GRCh38)
                        7:26248124 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:26208503:T:C
                        Gene:
                        CBX3 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        13.

                        rs1427114580 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          7:26206415 (GRCh38)
                          7:26246035 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:26206414:G:C
                          Gene:
                          CBX3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.00005/1 (ALFA)
                          C=0.00055/1 (Korea1K)
                          HGVS:
                          14.

                          rs1425238327 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            7:26208540 (GRCh38)
                            7:26248160 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:26208539:G:A
                            Gene:
                            CBX3 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            15.

                            rs1420304871 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              7:26212170 (GRCh38)
                              7:26251790 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:26212169:C:G,NC_000007.14:26212169:C:T
                              Gene:
                              CBX3 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000028/1 (ALFA)
                              T=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              16.

                              rs1412592608 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:26212192 (GRCh38)
                                7:26251812 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:26212191:A:G
                                Gene:
                                CBX3 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000005/1 (GnomAD_exomes)
                                HGVS:
                                17.

                                rs1409530392 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  7:26208490 (GRCh38)
                                  7:26248110 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:26208489:A:G
                                  Gene:
                                  CBX3 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1402367254 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    7:26208521 (GRCh38)
                                    7:26248141 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:26208520:C:A
                                    Gene:
                                    CBX3 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    19.

                                    rs1391550415 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      7:26211689 (GRCh38)
                                      7:26251309 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:26211688:G:A
                                      Gene:
                                      CBX3 (Varview)
                                      Functional Consequence:
                                      missense_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      20.

                                      rs1389018445 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        7:26208527 (GRCh38)
                                        7:26248147 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:26208526:A:G
                                        Gene:
                                        CBX3 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:

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