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Items: 1 to 20 of 1941

1.

rs1491161545 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    3:98188303 (GRCh38)
    3:97907147 (GRCh37)
    Canonical SPDI:
    NC_000003.12:98188302:CA:
    Gene:
    LOC105373998 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.00004/1 (GnomAD)
    HGVS:
    2.

    rs1490870061 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      3:98186210 (GRCh38)
      3:97905054 (GRCh37)
      Canonical SPDI:
      NC_000003.12:98186209:G:A
      Gene:
      LOC105373998 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490858945 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        3:98187633 (GRCh38)
        3:97906477 (GRCh37)
        Canonical SPDI:
        NC_000003.12:98187632:A:G
        Gene:
        LOC105373998 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490396150 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:98185900 (GRCh38)
          3:97904744 (GRCh37)
          Canonical SPDI:
          NC_000003.12:98185899:C:T
          Gene:
          LOC105373998 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1490090966 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            3:98189873 (GRCh38)
            3:97908717 (GRCh37)
            Canonical SPDI:
            NC_000003.12:98189872:T:G
            Gene:
            LOC105373997 (Varview), LOC105373998 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1489892489 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              3:98188854 (GRCh38)
              3:97907698 (GRCh37)
              Canonical SPDI:
              NC_000003.12:98188853:G:A,NC_000003.12:98188853:G:C
              Gene:
              LOC105373998 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1488687286 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                3:98187936 (GRCh38)
                3:97906780 (GRCh37)
                Canonical SPDI:
                NC_000003.12:98187935:C:A
                Gene:
                LOC105373998 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1488534667 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C,T [Show Flanks]
                  Chromosome:
                  3:98190619 (GRCh38)
                  3:97909463 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:98190618:G:C,NC_000003.12:98190618:G:T
                  Gene:
                  LOC105373997 (Varview), LOC105373998 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1487873263 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:98189907 (GRCh38)
                    3:97908751 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:98189906:C:T
                    Gene:
                    LOC105373997 (Varview), LOC105373998 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_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.

                    rs1487779709 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      3:98190183 (GRCh38)
                      3:97909027 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:98190182:C:A
                      Gene:
                      LOC105373997 (Varview), LOC105373998 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0./0 (GnomAD)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1487108316 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        3:98184569 (GRCh38)
                        3:97903413 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:98184568:C:A,NC_000003.12:98184568:C:T
                        Gene:
                        LOC105373998 (Varview)
                        Functional Consequence:
                        downstream_transcript_variant,500B_downstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487046292 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          AC>- [Show Flanks]
                          Chromosome:
                          3:98188463 (GRCh38)
                          3:97907307 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:98188462:AC:
                          Gene:
                          LOC105373998 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          -=0.000156/1 (1000Genomes)
                          -=0.000186/26 (GnomAD)
                          HGVS:
                          13.

                          rs1487019653 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            3:98186971 (GRCh38)
                            3:97905815 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:98186970:A:G
                            Gene:
                            LOC105373998 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000021/3 (GnomAD)
                            G=0.00003/8 (TOPMED)
                            HGVS:
                            14.

                            rs1486514387 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              3:98186281 (GRCh38)
                              3:97905125 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:98186280:A:C
                              Gene:
                              LOC105373998 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1486444951 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                3:98186991 (GRCh38)
                                3:97905835 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:98186990:C:A
                                Gene:
                                LOC105373998 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                A=0.000156/1 (1000Genomes)
                                C=0.5/1 (SGDP_PRJ)
                                HGVS:
                                16.

                                rs1486238765 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C,T [Show Flanks]
                                  Chromosome:
                                  3:98189535 (GRCh38)
                                  3:97908379 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:98189534:G:C,NC_000003.12:98189534:G:T
                                  Gene:
                                  LOC105373997 (Varview), LOC105373998 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  C=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1485915054 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTCT>- [Show Flanks]
                                    Chromosome:
                                    3:98189088 (GRCh38)
                                    3:97907932 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:98189083:TTCTTTCT:TTCT
                                    Gene:
                                    LOC105373998 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TTCTTTCT=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1485658616 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      T>- [Show Flanks]
                                      Chromosome:
                                      3:98188299 (GRCh38)
                                      3:97907143 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:98188298:TTT:TT
                                      Gene:
                                      LOC105373998 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TT=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1485402507 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->C [Show Flanks]
                                        Chromosome:
                                        3:98187516 (GRCh38)
                                        3:97906361 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:98187516:C:CC
                                        Gene:
                                        LOC105373998 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CC=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1485261518 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:98188370 (GRCh38)
                                          3:97907214 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:98188369:G:A
                                          Gene:
                                          LOC105373998 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:

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