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Items: 1 to 20 of 281

1.

rs1490361180 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    11:4989658 (GRCh38)
    11:5010888 (GRCh37)
    Canonical SPDI:
    NC_000011.10:4989657:A:T
    Gene:
    MMP26 (Varview)
    Functional Consequence:
    missense_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1487880930 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      11:4992216 (GRCh38)
      11:5013446 (GRCh37)
      Canonical SPDI:
      NC_000011.10:4992215:G:C
      Gene:
      MMP26 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      HGVS:
      3.

      rs1487073357 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        11:4989653 (GRCh38)
        11:5010883 (GRCh37)
        Canonical SPDI:
        NC_000011.10:4989652:T:C
        Gene:
        MMP26 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1485111550 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          11:4991463 (GRCh38)
          11:5012693 (GRCh37)
          Canonical SPDI:
          NC_000011.10:4991462:G:T
          Gene:
          MMP26 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0./0 (GnomAD)
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          5.

          rs1480655134 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            11:4988270 (GRCh38)
            11:5009500 (GRCh37)
            Canonical SPDI:
            NC_000011.10:4988269:T:C
            Gene:
            MMP26 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            6.

            rs1479202727 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              11:4992234 (GRCh38)
              11:5013464 (GRCh37)
              Canonical SPDI:
              NC_000011.10:4992233:A:G
              Gene:
              MMP26 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              7.

              rs1479165607 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                11:4990598 (GRCh38)
                11:5011828 (GRCh37)
                Canonical SPDI:
                NC_000011.10:4990597:G:C
                Gene:
                MMP26 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1471026199 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  11:4991975 (GRCh38)
                  11:5013205 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:4991974:T:C
                  Gene:
                  MMP26 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1468343358 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    11:4989863 (GRCh38)
                    11:5011093 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:4989862:T:A
                    Gene:
                    MMP26 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1464695536 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      11:4992079 (GRCh38)
                      11:5013309 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:4992078:C:A,NC_000011.10:4992078:C:T
                      Gene:
                      MMP26 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1463589883 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        11:4988304 (GRCh38)
                        11:5009534 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:4988303:T:C,NC_000011.10:4988303:T:G
                        Gene:
                        MMP26 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000031/1 (ALFA)
                        G=0.000007/1 (GnomAD)
                        C=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        12.

                        rs1460856096 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          11:4988244 (GRCh38)
                          11:5009474 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:4988243:C:G
                          Gene:
                          MMP26 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant,5_prime_UTR_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          13.

                          rs1457427090 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:4992002 (GRCh38)
                            11:5013232 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:4992001:C:T
                            Gene:
                            MMP26 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1456399520 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              11:4992010 (GRCh38)
                              11:5013240 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:4992009:G:C
                              Gene:
                              MMP26 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1454578400 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:4991477 (GRCh38)
                                11:5012707 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:4991476:C:T
                                Gene:
                                MMP26 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1452859595 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  11:4990726 (GRCh38)
                                  11:5011956 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:4990725:A:G
                                  Gene:
                                  MMP26 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1450997720 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    11:4992043 (GRCh38)
                                    11:5013273 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:4992042:A:G
                                    Gene:
                                    MMP26 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1450565762 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:4989862 (GRCh38)
                                      11:5011092 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:4989861:C:T
                                      Gene:
                                      MMP26 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1449962605 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        11:4989858 (GRCh38)
                                        11:5011088 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:4989857:C:G
                                        Gene:
                                        MMP26 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1449424530 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:4992223 (GRCh38)
                                          11:5013453 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:4992222:G:A
                                          Gene:
                                          MMP26 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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