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Items: 1 to 20 of 1000

1.

rs1491191795 has merged into rs71620767 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    T>-,TT [Show Flanks]
    Chromosome:
    3:23200155 (GRCh38)
    3:23241646 (GRCh37)
    Canonical SPDI:
    NC_000003.12:23200154:TTTTTTT:TTTTTT,NC_000003.12:23200154:TTTTTTT:TTTTTTTT
    Gene:
    UBE2E2-DT (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTT=0./0 (ALFA)
    -=0.000007/1 (GnomAD)
    HGVS:
    2.

    rs1490962784 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:23198826 (GRCh38)
      3:23240317 (GRCh37)
      Canonical SPDI:
      NC_000003.12:23198825:C:T
      Gene:
      UBE2E2-DT (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1490090431 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        3:23194591 (GRCh38)
        3:23236082 (GRCh37)
        Canonical SPDI:
        NC_000003.12:23194590:C:A,NC_000003.12:23194590:C:T
        Gene:
        UBE2E2-DT (Varview)
        Functional Consequence:
        downstream_transcript_variant,500B_downstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        A=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1489999576 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          3:23196957 (GRCh38)
          3:23238448 (GRCh37)
          Canonical SPDI:
          NC_000003.12:23196956:T:G
          Gene:
          UBE2E2-DT (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)
          HGVS:
          5.

          rs1489654749 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,G [Show Flanks]
            Chromosome:
            3:23203541 (GRCh38)
            3:23245032 (GRCh37)
            Canonical SPDI:
            NC_000003.12:23203540:A:C,NC_000003.12:23203540:A:G
            Gene:
            UBE2E2 (Varview), UBE2E2-DT (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.00017/2 (ALFA)
            C=0.04216/122 (KOREAN)
            HGVS:
            6.

            rs1489340588 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              3:23203904 (GRCh38)
              3:23245395 (GRCh37)
              Canonical SPDI:
              NC_000003.12:23203903:C:T
              Gene:
              UBE2E2 (Varview), UBE2E2-DT (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489044389 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:23200780 (GRCh38)
                3:23242271 (GRCh37)
                Canonical SPDI:
                NC_000003.12:23200779:G:A
                Gene:
                UBE2E2-DT (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000214/3 (ALFA)
                A=0.000026/7 (TOPMED)
                A=0.000029/4 (GnomAD)
                HGVS:
                8.

                rs1488885755 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  3:23198694 (GRCh38)
                  3:23240185 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:23198693:C:A,NC_000003.12:23198693:C:T
                  Gene:
                  UBE2E2-DT (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.00031/2 (1000Genomes)
                  HGVS:
                  9.

                  rs1488603068 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    3:23195631 (GRCh38)
                    3:23237122 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:23195630:A:G
                    Gene:
                    UBE2E2-DT (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000014/2 (GnomAD)
                    G=0.000019/5 (TOPMED)
                    HGVS:
                    10.

                    rs1488565583 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      3:23204530 (GRCh38)
                      3:23246021 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:23204529:G:C
                      Gene:
                      UBE2E2 (Varview), UBE2E2-DT (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1488486538 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        3:23196561 (GRCh38)
                        3:23238052 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:23196560:A:C
                        Gene:
                        UBE2E2-DT (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1488479134 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          3:23204591 (GRCh38)
                          3:23246082 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:23204590:T:A
                          Gene:
                          UBE2E2 (Varview), UBE2E2-DT (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1487935207 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            3:23197185 (GRCh38)
                            3:23238676 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:23197184:G:T
                            Gene:
                            UBE2E2-DT (Varview)
                            Functional Consequence:
                            intron_variant
                            HGVS:
                            14.

                            rs1487870756 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              3:23199300 (GRCh38)
                              3:23240791 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:23199299:T:A
                              Gene:
                              UBE2E2-DT (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487351163 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                3:23204584 (GRCh38)
                                3:23246075 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:23204583:G:T
                                Gene:
                                UBE2E2 (Varview), UBE2E2-DT (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1487087431 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  3:23200005 (GRCh38)
                                  3:23241496 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:23200004:C:G,NC_000003.12:23200004:C:T
                                  Gene:
                                  UBE2E2-DT (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000066/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1487008732 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    3:23204499 (GRCh38)
                                    3:23245990 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:23204498:A:G
                                    Gene:
                                    UBE2E2 (Varview), UBE2E2-DT (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1486592742 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:23201800 (GRCh38)
                                      3:23243291 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:23201799:A:G
                                      Gene:
                                      UBE2E2 (Varview), UBE2E2-DT (Varview)
                                      Functional Consequence:
                                      intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486455886 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        3:23199015 (GRCh38)
                                        3:23240506 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:23199014:G:C
                                        Gene:
                                        UBE2E2-DT (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1486420666 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:23201562 (GRCh38)
                                          3:23243053 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:23201561:G:A
                                          Gene:
                                          UBE2E2 (Varview), UBE2E2-DT (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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