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Items: 1 to 20 of 4694

1.

rs1490825738 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    4:7048100 (GRCh38)
    4:7049827 (GRCh37)
    Canonical SPDI:
    NC_000004.12:7048099:A:G
    Gene:
    TADA2B (Varview), LOC100129931 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490690202 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      4:7046904 (GRCh38)
      4:7048632 (GRCh37)
      Canonical SPDI:
      NC_000004.12:7046904:AA:AAA
      Gene:
      TADA2B (Varview), LOC100129931 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      AAA=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490619290 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        G>- [Show Flanks]
        Chromosome:
        4:7047716 (GRCh38)
        4:7049443 (GRCh37)
        Canonical SPDI:
        NC_000004.12:7047715:GG:G
        Gene:
        TADA2B (Varview), LOC100129931 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GG=0./0 (ALFA)
        -=0.000007/1 (GnomAD)
        -=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1490376529 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          4:7054744 (GRCh38)
          4:7056471 (GRCh37)
          Canonical SPDI:
          NC_000004.12:7054743:G:A
          Gene:
          TADA2B (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490013121 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            4:7047143 (GRCh38)
            4:7048870 (GRCh37)
            Canonical SPDI:
            NC_000004.12:7047142:G:T
            Gene:
            TADA2B (Varview), LOC100129931 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0.000224/1 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000446/2 (Estonian)
            HGVS:
            6.

            rs1489960761 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              4:7045023 (GRCh38)
              4:7046750 (GRCh37)
              Canonical SPDI:
              NC_000004.12:7045022:G:A
              Gene:
              TADA2B (Varview), LOC100129931 (Varview)
              Functional Consequence:
              intron_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000014/2 (GnomAD)
              A=0.000035/1 (TOMMO)
              HGVS:
              7.

              rs1489533744 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                4:7042747 (GRCh38)
                4:7044474 (GRCh37)
                Canonical SPDI:
                NC_000004.12:7042746:G:A
                Gene:
                TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1489472813 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  4:7043057 (GRCh38)
                  4:7044784 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:7043056:G:T
                  Gene:
                  TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1489302000 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    4:7045690 (GRCh38)
                    4:7047417 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:7045689:C:T
                    Gene:
                    TADA2B (Varview), LOC100129931 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1488809047 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      4:7057584 (GRCh38)
                      4:7059311 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:7057583:C:G,NC_000004.12:7057583:C:T
                      Gene:
                      TADA2B (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      T=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1488774766 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:7052623 (GRCh38)
                        4:7054350 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:7052622:G:A
                        Gene:
                        TADA2B (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1488676128 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          4:7053214 (GRCh38)
                          4:7054941 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:7053213:T:G
                          Gene:
                          TADA2B (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1488619289 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            4:7043019 (GRCh38)
                            4:7044746 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:7043018:G:A
                            Gene:
                            TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1488568643 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              4:7043520 (GRCh38)
                              4:7045247 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:7043519:C:G
                              Gene:
                              TADA2B (Varview), CCDC96 (Varview), LOC100129931 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000015/4 (TOPMED)
                              G=0.000016/2 (GnomAD)
                              HGVS:
                              15.

                              rs1488363956 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                4:7056499 (GRCh38)
                                4:7058226 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:7056498:A:T
                                Gene:
                                TADA2B (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1488210774 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  4:7057727 (GRCh38)
                                  4:7059454 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:7057726:C:T
                                  Gene:
                                  TADA2B (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000036/5 (GnomAD)
                                  T=0.000042/11 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488201805 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:7046332 (GRCh38)
                                    4:7048059 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:7046331:C:T
                                    Gene:
                                    TADA2B (Varview), LOC100129931 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487455488 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:7056989 (GRCh38)
                                      4:7058716 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:7056988:C:T
                                      Gene:
                                      TADA2B (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000036/5 (GnomAD)
                                      T=0.00006/16 (TOPMED)
                                      T=0.000177/3 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1487379081 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        4:7056035 (GRCh38)
                                        4:7057762 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:7056034:G:A
                                        Gene:
                                        TADA2B (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487336487 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          4:7046420 (GRCh38)
                                          4:7048147 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:7046419:GGGGG:GGGG
                                          Gene:
                                          TADA2B (Varview), LOC100129931 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GGGG=0./0 (ALFA)
                                          -=0.000011/3 (TOPMED)
                                          -=0.00005/7 (GnomAD)
                                          HGVS:

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