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1.

rs1491045666 has merged into rs71820531 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    X:119471786 (GRCh38)
    X:118605749 (GRCh37)
    Canonical SPDI:
    NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:119471776:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    SLC25A5 (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTT=0./0 (ALFA)
    TTTTTTTTTTTTTTTTTT=0.2948/1113 (1000Genomes)
    HGVS:
    NC_000023.11:g.119471786_119471804del, NC_000023.11:g.119471787_119471804del, NC_000023.11:g.119471788_119471804del, NC_000023.11:g.119471789_119471804del, NC_000023.11:g.119471790_119471804del, NC_000023.11:g.119471791_119471804del, NC_000023.11:g.119471792_119471804del, NC_000023.11:g.119471793_119471804del, NC_000023.11:g.119471794_119471804del, NC_000023.11:g.119471795_119471804del, NC_000023.11:g.119471796_119471804del, NC_000023.11:g.119471797_119471804del, NC_000023.11:g.119471798_119471804del, NC_000023.11:g.119471799_119471804del, NC_000023.11:g.119471800_119471804del, NC_000023.11:g.119471802_119471804del, NC_000023.11:g.119471803_119471804del, NC_000023.11:g.119471804del, NC_000023.11:g.119471804dup, NC_000023.11:g.119471803_119471804dup, NC_000023.11:g.119471802_119471804dup, NC_000023.11:g.119471801_119471804dup, NC_000023.11:g.119471800_119471804dup, NC_000023.11:g.119471799_119471804dup, NC_000023.11:g.119471798_119471804dup, NC_000023.11:g.119471797_119471804dup, NC_000023.11:g.119471796_119471804dup, NC_000023.11:g.119471795_119471804dup, NC_000023.10:g.118605749_118605767del, NC_000023.10:g.118605750_118605767del, NC_000023.10:g.118605751_118605767del, NC_000023.10:g.118605752_118605767del, NC_000023.10:g.118605753_118605767del, NC_000023.10:g.118605754_118605767del, NC_000023.10:g.118605755_118605767del, NC_000023.10:g.118605756_118605767del, NC_000023.10:g.118605757_118605767del, NC_000023.10:g.118605758_118605767del, NC_000023.10:g.118605759_118605767del, NC_000023.10:g.118605760_118605767del, NC_000023.10:g.118605761_118605767del, NC_000023.10:g.118605762_118605767del, NC_000023.10:g.118605763_118605767del, NC_000023.10:g.118605765_118605767del, NC_000023.10:g.118605766_118605767del, NC_000023.10:g.118605767del, NC_000023.10:g.118605767dup, NC_000023.10:g.118605766_118605767dup, NC_000023.10:g.118605765_118605767dup, NC_000023.10:g.118605764_118605767dup, NC_000023.10:g.118605763_118605767dup, NC_000023.10:g.118605762_118605767dup, NC_000023.10:g.118605761_118605767dup, NC_000023.10:g.118605760_118605767dup, NC_000023.10:g.118605759_118605767dup, NC_000023.10:g.118605758_118605767dup, NG_013262.1:g.8387_8405del, NG_013262.1:g.8388_8405del, NG_013262.1:g.8389_8405del, NG_013262.1:g.8390_8405del, NG_013262.1:g.8391_8405del, NG_013262.1:g.8392_8405del, NG_013262.1:g.8393_8405del, NG_013262.1:g.8394_8405del, NG_013262.1:g.8395_8405del, NG_013262.1:g.8396_8405del, NG_013262.1:g.8397_8405del, NG_013262.1:g.8398_8405del, NG_013262.1:g.8399_8405del, NG_013262.1:g.8400_8405del, NG_013262.1:g.8401_8405del, NG_013262.1:g.8403_8405del, NG_013262.1:g.8404_8405del, NG_013262.1:g.8405del, NG_013262.1:g.8405dup, NG_013262.1:g.8404_8405dup, NG_013262.1:g.8403_8405dup, NG_013262.1:g.8402_8405dup, NG_013262.1:g.8401_8405dup, NG_013262.1:g.8400_8405dup, NG_013262.1:g.8399_8405dup, NG_013262.1:g.8398_8405dup, NG_013262.1:g.8397_8405dup, NG_013262.1:g.8396_8405dup
    2.

    rs1490780391 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      X:119469227 (GRCh38)
      X:118603190 (GRCh37)
      Canonical SPDI:
      NC_000023.11:119469226:A:G
      Gene:
      SLC25A5 (Varview), SLC25A5-AS1 (Varview)
      Functional Consequence:
      intron_variant,2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.00099/15 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000096/10 (GnomAD)
      HGVS:
      3.

      rs1490774930 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        X:119471447 (GRCh38)
        X:118605410 (GRCh37)
        Canonical SPDI:
        NC_000023.11:119471446:T:C
        Gene:
        SLC25A5 (Varview)
        Functional Consequence:
        500B_downstream_variant,downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000008/2 (TOPMED)
        C=0.000019/2 (GnomAD)
        HGVS:
        4.

        rs1490676145 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          X:119471278 (GRCh38)
          X:118605241 (GRCh37)
          Canonical SPDI:
          NC_000023.11:119471277:G:A
          Gene:
          SLC25A5 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000169/2 (ALFA)
          A=0.000009/1 (GnomAD)
          HGVS:
          5.

          rs1490186047 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            X:119470838 (GRCh38)
            X:118604801 (GRCh37)
            Canonical SPDI:
            NC_000023.11:119470837:T:G
            Gene:
            SLC25A5 (Varview), SLC25A5-AS1 (Varview)
            Functional Consequence:
            intron_variant,2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1489796443 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              X:119469477 (GRCh38)
              X:118603440 (GRCh37)
              Canonical SPDI:
              NC_000023.11:119469476:A:G
              Gene:
              SLC25A5 (Varview), SLC25A5-AS1 (Varview)
              Functional Consequence:
              intron_variant,2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.00001/1 (GnomAD)
              G=0.000026/7 (TOPMED)
              HGVS:
              7.

              rs1489024496 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                X:119469023 (GRCh38)
                X:118602986 (GRCh37)
                Canonical SPDI:
                NC_000023.11:119469022:G:A,NC_000023.11:119469022:G:T
                Gene:
                SLC25A5 (Varview), SLC25A5-AS1 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1487925188 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  X:119468668 (GRCh38)
                  X:118602631 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:119468667:A:G
                  Gene:
                  SLC25A5 (Varview), SLC25A5-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1487656032 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    X:119468690 (GRCh38)
                    X:118602653 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:119468689:G:A,NC_000023.11:119468689:G:C
                    Gene:
                    SLC25A5 (Varview), SLC25A5-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1487623073 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      X:119467285 (GRCh38)
                      X:118601248 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:119467284:G:A,NC_000023.11:119467284:G:T
                      Gene:
                      SLC25A5 (Varview), SLC25A5-AS1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      T=0.00004/1 (TOMMO)
                      HGVS:
                      11.

                      rs1487236816 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        X:119471535 (GRCh38)
                        X:118605498 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:119471534:C:G,NC_000023.11:119471534:C:T
                        Gene:
                        SLC25A5 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000132/2 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1486907484 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          X:119468520 (GRCh38)
                          X:118602483 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:119468519:C:G,NC_000023.11:119468519:C:T
                          Gene:
                          SLC25A5 (Varview), SLC25A5-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                          HGVS:
                          13.

                          rs1484291351 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            X:119469092 (GRCh38)
                            X:118603055 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:119469091:C:T
                            Gene:
                            SLC25A5 (Varview), SLC25A5-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1483861657 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,G,T [Show Flanks]
                              Chromosome:
                              X:119468221 (GRCh38)
                              X:118602184 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:119468220:A:C,NC_000023.11:119468220:A:G,NC_000023.11:119468220:A:T
                              Gene:
                              SLC25A5 (Varview), SLC25A5-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              A=0./0 (SGDP_PRJ)
                              HGVS:
                              15.

                              rs1483334180 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                X:119468703 (GRCh38)
                                X:118602666 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:119468702:C:G
                                Gene:
                                SLC25A5 (Varview), SLC25A5-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.00001/1 (GnomAD)
                                HGVS:
                                16.

                                rs1483135021 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  X:119466907 (GRCh38)
                                  X:118600870 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:119466906:G:T
                                  Gene:
                                  SLC25A5 (Varview), SLC25A5-AS1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1482657116 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    X:119468210 (GRCh38)
                                    X:118602173 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:119468209:G:A
                                    Gene:
                                    SLC25A5 (Varview), SLC25A5-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                                    HGVS:
                                    18.

                                    rs1482467114 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      X:119471074 (GRCh38)
                                      X:118605037 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:119471073:T:G
                                      Gene:
                                      SLC25A5 (Varview), SLC25A5-AS1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000009/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1481010760 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        X:119471397 (GRCh38)
                                        X:118605360 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:119471396:T:C
                                        Gene:
                                        SLC25A5 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1480655135 [Homo sapiens]
                                          Variant type:
                                          INS
                                          Alleles:
                                          ->TGCTTCCGGATCCC [Show Flanks]
                                          Chromosome:
                                          X:119470150 (GRCh38)
                                          X:118604114 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:119470150::TGCTTCCGGATCCC
                                          Gene:
                                          SLC25A5 (Varview), SLC25A5-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by cluster
                                          HGVS:

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