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Items: 1 to 20 of 777

1.

rs1491471405 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    8:101370061 (GRCh38)
    8:102382289 (GRCh37)
    Canonical SPDI:
    NC_000008.11:101370060:CA:
    Gene:
    NACA4P (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00017/2 (ALFA)
    HGVS:
    2.

    rs1490476415 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      8:101369993 (GRCh38)
      8:102382221 (GRCh37)
      Canonical SPDI:
      NC_000008.11:101369992:C:A,NC_000008.11:101369992:C:T
      Gene:
      NACA4P (Varview)
      Functional Consequence:
      500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000015/4 (TOPMED)
      T=0.000035/1 (TOMMO)
      HGVS:
      3.

      rs1489826897 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        8:101369441 (GRCh38)
        8:102381669 (GRCh37)
        Canonical SPDI:
        NC_000008.11:101369440:A:C
        Gene:
        NACA4P (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1487933137 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          8:101369319 (GRCh38)
          8:102381547 (GRCh37)
          Canonical SPDI:
          NC_000008.11:101369318:A:G
          Gene:
          NACA4P (Varview)
          Functional Consequence:
          non_coding_transcript_variant
          Validated:
          by frequency,by cluster
          MAF:
          G=0.000007/1 (GnomAD)
          G=0.000008/2 (GnomAD_exomes)
          HGVS:
          5.

          rs1486910513 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            8:101368299 (GRCh38)
            8:102380527 (GRCh37)
            Canonical SPDI:
            NC_000008.11:101368298:C:A
            Gene:
            NACA4P (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1483640677 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              8:101369082 (GRCh38)
              8:102381310 (GRCh37)
              Canonical SPDI:
              NC_000008.11:101369081:T:C
              Gene:
              NACA4P (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1482658660 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                8:101368726 (GRCh38)
                8:102380954 (GRCh37)
                Canonical SPDI:
                NC_000008.11:101368725:C:G
                Gene:
                NACA4P (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1481517125 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  8:101369168 (GRCh38)
                  8:102381396 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:101369167:G:T
                  Gene:
                  NACA4P (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1481294596 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    8:101369874 (GRCh38)
                    8:102382102 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:101369873:C:A,NC_000008.11:101369873:C:T
                    Gene:
                    NACA4P (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1481115885 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      8:101366995 (GRCh38)
                      8:102379223 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:101366994:T:A
                      Gene:
                      NACA4P (Varview)
                      Functional Consequence:
                      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:
                      11.

                      rs1480739583 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        8:101369727 (GRCh38)
                        8:102381955 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:101369726:G:A
                        Gene:
                        NACA4P (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1480286056 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          8:101369951 (GRCh38)
                          8:102382179 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:101369950:A:G
                          Gene:
                          NACA4P (Varview)
                          Functional Consequence:
                          500B_downstream_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1477113449 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            G>C
                            Chromosome:
                            no mapping
                            Canonical SPDI:
                            14.

                            rs1477061793 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              8:101367068 (GRCh38)
                              8:102379296 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:101367067:T:G
                              Gene:
                              NACA4P (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1476370995 has merged into rs902426728 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                T>-,TT [Show Flanks]
                                Chromosome:
                                8:101368346 (GRCh38)
                                8:102380574 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:101368345:TTTTTTT:TTTTTT,NC_000008.11:101368345:TTTTTTT:TTTTTTTT
                                Gene:
                                NACA4P (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTT=0./0 (ALFA)
                                -=0.000023/6 (TOPMED)
                                -=0.000029/4 (GnomAD)
                                HGVS:
                                16.

                                rs1476342497 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  8:101367200 (GRCh38)
                                  8:102379428 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:101367199:A:G
                                  Gene:
                                  NACA4P (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1473499421 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CA>- [Show Flanks]
                                    Chromosome:
                                    8:101367768 (GRCh38)
                                    8:102379996 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:101367766:ACA:A
                                    Gene:
                                    NACA4P (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    -=0.000011/3 (TOPMED)
                                    -=0.000029/4 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1473076910 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      8:101368291 (GRCh38)
                                      8:102380519 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:101368290:G:A
                                      Gene:
                                      NACA4P (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1472124055 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        8:101368821 (GRCh38)
                                        8:102381049 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:101368820:G:A
                                        Gene:
                                        NACA4P (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1471916288 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          8:101368717 (GRCh38)
                                          8:102380945 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:101368716:T:A
                                          Gene:
                                          NACA4P (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000011/3 (TOPMED)
                                          A=0.000021/3 (GnomAD)
                                          HGVS:

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