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Items: 1 to 20 of 26656

1.

rs1491509008 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    4:77513822 (GRCh38)
    4:78434976 (GRCh37)
    Canonical SPDI:
    NC_000004.12:77513819:TATA:TA
    Gene:
    CXCL13 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    TATA=0./0 (ALFA)
    HGVS:
    2.

    rs1491506535 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      TC>-
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491483795 has merged into rs780283463 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        4:77591562 (GRCh38)
        4:78512716 (GRCh37)
        Canonical SPDI:
        NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:77591550:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        CXCL13 (Varview), LOC105377296 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000004.12:g.77591562_77591573del, NC_000004.12:g.77591563_77591573del, NC_000004.12:g.77591564_77591573del, NC_000004.12:g.77591565_77591573del, NC_000004.12:g.77591566_77591573del, NC_000004.12:g.77591567_77591573del, NC_000004.12:g.77591568_77591573del, NC_000004.12:g.77591569_77591573del, NC_000004.12:g.77591570_77591573del, NC_000004.12:g.77591571_77591573del, NC_000004.12:g.77591572_77591573del, NC_000004.12:g.77591573del, NC_000004.12:g.77591573dup, NC_000004.12:g.77591572_77591573dup, NC_000004.12:g.77591571_77591573dup, NC_000004.12:g.77591570_77591573dup, NC_000004.12:g.77591569_77591573dup, NC_000004.12:g.77591568_77591573dup, NC_000004.12:g.77591567_77591573dup, NC_000004.12:g.77591566_77591573dup, NC_000004.12:g.77591564_77591573dup, NC_000004.11:g.78512716_78512727del, NC_000004.11:g.78512717_78512727del, NC_000004.11:g.78512718_78512727del, NC_000004.11:g.78512719_78512727del, NC_000004.11:g.78512720_78512727del, NC_000004.11:g.78512721_78512727del, NC_000004.11:g.78512722_78512727del, NC_000004.11:g.78512723_78512727del, NC_000004.11:g.78512724_78512727del, NC_000004.11:g.78512725_78512727del, NC_000004.11:g.78512726_78512727del, NC_000004.11:g.78512727del, NC_000004.11:g.78512727dup, NC_000004.11:g.78512726_78512727dup, NC_000004.11:g.78512725_78512727dup, NC_000004.11:g.78512724_78512727dup, NC_000004.11:g.78512723_78512727dup, NC_000004.11:g.78512722_78512727dup, NC_000004.11:g.78512721_78512727dup, NC_000004.11:g.78512720_78512727dup, NC_000004.11:g.78512718_78512727dup
        4.

        rs1491437380 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GT>- [Show Flanks]
          Chromosome:
          4:77525920 (GRCh38)
          4:78447074 (GRCh37)
          Canonical SPDI:
          NC_000004.12:77525918:TGT:T
          Gene:
          CXCL13 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.049992/593 (ALFA)
          -=0.033557/20 (NorthernSweden)
          -=0.055629/7046 (GnomAD)
          -=0.130459/239 (Korea1K)
          -=0.156149/579 (TWINSUK)
          -=0.163467/630 (ALSPAC)
          -=0.168165/2816 (TOMMO)
          -=0.175/7 (GENOME_DK)
          HGVS:
          5.

          rs1491414003 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            4:77611860 (GRCh38)
            4:78533014 (GRCh37)
            Canonical SPDI:
            NC_000004.12:77611858:TCT:T
            Gene:
            CXCL13 (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1491300668 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CT [Show Flanks]
              Chromosome:
              4:77611861 (GRCh38)
              4:78533016 (GRCh37)
              Canonical SPDI:
              NC_000004.12:77611861:T:TCT
              Gene:
              CXCL13 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              TCT=0./0 (ALFA)
              HGVS:
              7.

              rs1491271659 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                GT>- [Show Flanks]
                Chromosome:
                4:77525916 (GRCh38)
                4:78447070 (GRCh37)
                Canonical SPDI:
                NC_000004.12:77525915:GT:
                Gene:
                CXCL13 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00042/5 (ALFA)
                HGVS:
                8.

                rs1491226700 has merged into rs1209460883 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>-,CC [Show Flanks]
                  Chromosome:
                  4:77539077 (GRCh38)
                  4:78460231 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:77539076:CC:C,NC_000004.12:77539076:CC:CCC
                  Gene:
                  CXCL13 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  CC=0.000429/7 (ALFA)
                  -=0.000047/6 (GnomAD)
                  HGVS:
                  9.

                  rs1491212843 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->A [Show Flanks]
                    Chromosome:
                    4:77611859 (GRCh38)
                    4:78533014 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:77611859::A
                    Gene:
                    CXCL13 (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491203212 has merged into rs545825685 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTTTTTTT>-,T,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      4:77611869 (GRCh38)
                      4:78533023 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:77611860:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      CXCL13 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTT=0./0 (ALFA)
                      -=0.0597/299 (1000Genomes)
                      HGVS:
                      NC_000004.12:g.77611869_77611881del, NC_000004.12:g.77611870_77611881del, NC_000004.12:g.77611875_77611881del, NC_000004.12:g.77611876_77611881del, NC_000004.12:g.77611877_77611881del, NC_000004.12:g.77611878_77611881del, NC_000004.12:g.77611879_77611881del, NC_000004.12:g.77611880_77611881del, NC_000004.12:g.77611881del, NC_000004.12:g.77611881dup, NC_000004.12:g.77611880_77611881dup, NC_000004.12:g.77611879_77611881dup, NC_000004.12:g.77611878_77611881dup, NC_000004.12:g.77611877_77611881dup, NC_000004.12:g.77611876_77611881dup, NC_000004.12:g.77611875_77611881dup, NC_000004.12:g.77611874_77611881dup, NC_000004.12:g.77611873_77611881dup, NC_000004.12:g.77611872_77611881dup, NC_000004.12:g.77611871_77611881dup, NC_000004.12:g.77611870_77611881dup, NC_000004.12:g.77611865_77611881dup, NC_000004.12:g.77611881_77611882insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000004.11:g.78533023_78533035del, NC_000004.11:g.78533024_78533035del, NC_000004.11:g.78533029_78533035del, NC_000004.11:g.78533030_78533035del, NC_000004.11:g.78533031_78533035del, NC_000004.11:g.78533032_78533035del, NC_000004.11:g.78533033_78533035del, NC_000004.11:g.78533034_78533035del, NC_000004.11:g.78533035del, NC_000004.11:g.78533035dup, NC_000004.11:g.78533034_78533035dup, NC_000004.11:g.78533033_78533035dup, NC_000004.11:g.78533032_78533035dup, NC_000004.11:g.78533031_78533035dup, NC_000004.11:g.78533030_78533035dup, NC_000004.11:g.78533029_78533035dup, NC_000004.11:g.78533028_78533035dup, NC_000004.11:g.78533027_78533035dup, NC_000004.11:g.78533026_78533035dup, NC_000004.11:g.78533025_78533035dup, NC_000004.11:g.78533024_78533035dup, NC_000004.11:g.78533019_78533035dup, NC_000004.11:g.78533035_78533036insTTTTTTTTTTTTTTTTTTTTTTTTTT
                      11.

                      rs1491148593 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CA [Show Flanks]
                        Chromosome:
                        4:77591551 (GRCh38)
                        4:78512706 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:77591551:A:ACA
                        Gene:
                        CXCL13 (Varview), LOC105377296 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        ACA=0./0 (ALFA)
                        AC=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1491081093 has merged into rs201437912 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TT>-,T,TTT,TTTT [Show Flanks]
                          Chromosome:
                          4:77610183 (GRCh38)
                          4:78531337 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:77610173:TTTTTTTTTTT:TTTTTTTTT,NC_000004.12:77610173:TTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:77610173:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:77610173:TTTTTTTTTTT:TTTTTTTTTTTTT
                          Gene:
                          CXCL13 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTTTTT=0./0 (ALFA)
                          -=0.10249/489 (1000Genomes)
                          T=0.1068/396 (TWINSUK)
                          T=0.11443/441 (ALSPAC)
                          T=0.125/5 (GENOME_DK)
                          T=0.13667/82 (NorthernSweden)
                          HGVS:
                          13.

                          rs1491058463 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TC>- [Show Flanks]
                            Chromosome:
                            4:77531132 (GRCh38)
                            4:78452286 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:77531131:TC:
                            Gene:
                            CXCL13 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490918792 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              4:77604386 (GRCh38)
                              4:78525540 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:77604385:T:C
                              Gene:
                              CXCL13 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000008/2 (TOPMED)
                              C=0.000071/2 (TOMMO)
                              HGVS:
                              15.

                              rs1490915221 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                4:77520942 (GRCh38)
                                4:78442096 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:77520941:T:G
                                Gene:
                                CXCL13 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1490908113 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  4:77552980 (GRCh38)
                                  4:78474134 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:77552979:G:A
                                  Gene:
                                  CXCL13 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490892925 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    4:77603433 (GRCh38)
                                    4:78524587 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:77603432:G:A
                                    Gene:
                                    CXCL13 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490887633 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      4:77511143 (GRCh38)
                                      4:78432297 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:77511142:T:C
                                      Gene:
                                      CXCL13 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0./0 (GnomAD)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000071/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1490884964 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        4:77572904 (GRCh38)
                                        4:78494058 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:77572903:A:G
                                        Gene:
                                        CXCL13 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        A=0.5/1 (SGDP_PRJ)
                                        HGVS:
                                        20.

                                        rs1490833505 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          4:77516755 (GRCh38)
                                          4:78437909 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:77516754:A:G
                                          Gene:
                                          CXCL13 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000014/2 (GnomAD)
                                          G=0.000019/5 (TOPMED)
                                          HGVS:

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