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Items: 1 to 20 of 1000

1.

rs1491082026 has merged into rs1555425536 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    15:58770030 (GRCh38)
    15:59062229 (GRCh37)
    Canonical SPDI:
    NC_000015.10:58770028:ACA:A
    Gene:
    MINDY2 (Varview), MINDY2-DT (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.000169/2 (ALFA)
    -=0.000107/2 (TOMMO)
    -=0.000123/16 (GnomAD)
    HGVS:
    2.

    rs1490931030 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      15:58767597 (GRCh38)
      15:59059796 (GRCh37)
      Canonical SPDI:
      NC_000015.10:58767596:A:T
      Gene:
      MINDY2-DT (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490716041 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        15:58768479 (GRCh38)
        15:59060678 (GRCh37)
        Canonical SPDI:
        NC_000015.10:58768478:G:A
        Gene:
        MINDY2-DT (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000021/3 (GnomAD)
        A=0.000026/7 (TOPMED)
        HGVS:
        4.

        rs1490216624 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TT>- [Show Flanks]
          Chromosome:
          15:58772552 (GRCh38)
          15:59064751 (GRCh37)
          Canonical SPDI:
          NC_000015.10:58772549:TTTT:TT
          Gene:
          MINDY2 (Varview), MINDY2-DT (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTT=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1489669383 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            15:58767631 (GRCh38)
            15:59059830 (GRCh37)
            Canonical SPDI:
            NC_000015.10:58767630:T:A
            Gene:
            MINDY2-DT (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1489386589 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              15:58769689 (GRCh38)
              15:59061888 (GRCh37)
              Canonical SPDI:
              NC_000015.10:58769688:G:A,NC_000015.10:58769688:G:T
              Gene:
              MINDY2 (Varview), MINDY2-DT (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              A=0.000022/3 (GnomAD)
              T=0.000708/20 (TOMMO)
              T=0.001638/3 (Korea1K)
              T=0.013347/39 (KOREAN)
              HGVS:
              7.

              rs1489263171 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                15:58770337 (GRCh38)
                15:59062536 (GRCh37)
                Canonical SPDI:
                NC_000015.10:58770336:A:G
                Gene:
                MINDY2 (Varview), MINDY2-DT (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000008/2 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1489106841 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  15:58769538 (GRCh38)
                  15:59061737 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:58769537:T:A,NC_000015.10:58769537:T:C
                  Gene:
                  MINDY2 (Varview), MINDY2-DT (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1488320902 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    15:58769688 (GRCh38)
                    15:59061887 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:58769687:GGG:GG
                    Gene:
                    MINDY2 (Varview), MINDY2-DT (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GG=0.000071/1 (ALFA)
                    -=0.000007/1 (GnomAD)
                    -=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1488165647 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      15:58771691 (GRCh38)
                      15:59063890 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:58771690:A:T
                      Gene:
                      MINDY2 (Varview), MINDY2-DT (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000015/4 (TOPMED)
                      HGVS:
                      NC_000015.10:g.58771691A>T, NC_000015.9:g.59063890A>T, XM_011521687.3:c.296A>T, XM_011521687.2:c.296A>T, XM_011521687.1:c.296A>T, XM_011521688.3:c.296A>T, XM_011521688.2:c.296A>T, XM_011521688.1:c.296A>T, NM_001040450.3:c.296A>T, NM_001040450.2:c.296A>T, NM_001040450.1:c.296A>T, NM_001040453.3:c.296A>T, NM_001040453.2:c.296A>T, NM_001040453.1:c.296A>T, XM_011521689.3:c.296A>T, XM_011521689.2:c.296A>T, XM_011521689.1:c.296A>T, XM_011521690.3:c.296A>T, XM_011521690.2:c.296A>T, XM_011521690.1:c.296A>T, XM_017022332.3:c.296A>T, XM_017022332.2:c.296A>T, XM_017022332.1:c.296A>T, XM_017022333.3:c.296A>T, XM_017022333.2:c.296A>T, XM_017022333.1:c.296A>T, XM_017022334.3:c.296A>T, XM_017022334.2:c.296A>T, XM_017022334.1:c.296A>T, XM_017022335.3:c.296A>T, XM_017022335.2:c.296A>T, XM_017022335.1:c.296A>T, XM_024449964.2:c.296A>T, XM_024449964.1:c.296A>T, XM_047432699.1:c.296A>T, XM_047432700.1:c.296A>T, NM_019092.1:c.296A>T, XP_011519989.1:p.Glu99Val, XP_011519990.1:p.Glu99Val, NP_001035540.1:p.Glu99Val, NP_001035543.1:p.Glu99Val, XP_011519991.1:p.Glu99Val, XP_011519992.1:p.Glu99Val, XP_016877821.1:p.Glu99Val, XP_016877822.1:p.Glu99Val, XP_016877823.1:p.Glu99Val, XP_016877824.1:p.Glu99Val, XP_024305732.1:p.Glu99Val, XP_047288655.1:p.Glu99Val, XP_047288656.1:p.Glu99Val
                      11.

                      rs1488041186 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        15:58768841 (GRCh38)
                        15:59061040 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:58768840:A:G
                        Gene:
                        MINDY2-DT (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487990282 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          15:58769456 (GRCh38)
                          15:59061655 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:58769455:G:A
                          Gene:
                          MINDY2 (Varview), MINDY2-DT (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1486853311 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            15:58769798 (GRCh38)
                            15:59061997 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:58769797:G:A,NC_000015.10:58769797:G:T
                            Gene:
                            MINDY2 (Varview), MINDY2-DT (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1486756735 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              15:58767932 (GRCh38)
                              15:59060131 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:58767931:A:T
                              Gene:
                              MINDY2-DT (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000011/3 (TOPMED)
                              T=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1486722676 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:58771175 (GRCh38)
                                15:59063374 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:58771174:C:T
                                Gene:
                                MINDY2 (Varview), MINDY2-DT (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1486441380 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  15:58769696 (GRCh38)
                                  15:59061895 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:58769695:G:A
                                  Gene:
                                  MINDY2 (Varview), MINDY2-DT (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1485998645 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    15:58768381 (GRCh38)
                                    15:59060580 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:58768380:C:G
                                    Gene:
                                    MINDY2-DT (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1485993444 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      15:58771035 (GRCh38)
                                      15:59063234 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:58771034:T:C
                                      Gene:
                                      MINDY2 (Varview), MINDY2-DT (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1485941195 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        15:58770249 (GRCh38)
                                        15:59062448 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:58770248:T:C
                                        Gene:
                                        MINDY2 (Varview), MINDY2-DT (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1485311950 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          15:58770219 (GRCh38)
                                          15:59062418 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:58770218:C:G,NC_000015.10:58770218:C:T
                                          Gene:
                                          MINDY2 (Varview), MINDY2-DT (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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