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1.

rs1491564794 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    5:97117921 (GRCh38)
    5:96453625 (GRCh37)
    Canonical SPDI:
    NC_000005.10:97117920:GA:
    Gene:
    LIX1 (Varview), LIX1-AS1 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491454364 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      5:97144067 (GRCh38)
      5:96479771 (GRCh37)
      Canonical SPDI:
      NC_000005.10:97144066:CT:
      Gene:
      LIX1 (Varview), LIX1-AS1 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000008/1 (GnomAD)
      HGVS:
      3.

      rs1491442172 has merged into rs140818193 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        5:97144082 (GRCh38)
        5:96479786 (GRCh37)
        Canonical SPDI:
        NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        LIX1 (Varview), LIX1-AS1 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
        -=0.01171/7 (NorthernSweden)
        T=0.25/2 (KOREAN)
        HGVS:
        NC_000005.10:g.97144082_97144085del, NC_000005.10:g.97144083_97144085del, NC_000005.10:g.97144084_97144085del, NC_000005.10:g.97144085del, NC_000005.10:g.97144085dup, NC_000005.10:g.97144084_97144085dup, NC_000005.10:g.97144083_97144085dup, NC_000005.10:g.97144082_97144085dup, NC_000005.10:g.97144080_97144085dup, NC_000005.10:g.97144079_97144085dup, NC_000005.10:g.97144078_97144085dup, NC_000005.10:g.97144077_97144085dup, NC_000005.10:g.97144076_97144085dup, NC_000005.10:g.97144075_97144085dup, NC_000005.10:g.97144074_97144085dup, NC_000005.10:g.97144073_97144085dup, NC_000005.10:g.97144072_97144085dup, NC_000005.10:g.97144085_97144086insTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.96479786_96479789del, NC_000005.9:g.96479787_96479789del, NC_000005.9:g.96479788_96479789del, NC_000005.9:g.96479789del, NC_000005.9:g.96479789dup, NC_000005.9:g.96479788_96479789dup, NC_000005.9:g.96479787_96479789dup, NC_000005.9:g.96479786_96479789dup, NC_000005.9:g.96479784_96479789dup, NC_000005.9:g.96479783_96479789dup, NC_000005.9:g.96479782_96479789dup, NC_000005.9:g.96479781_96479789dup, NC_000005.9:g.96479780_96479789dup, NC_000005.9:g.96479779_96479789dup, NC_000005.9:g.96479778_96479789dup, NC_000005.9:g.96479777_96479789dup, NC_000005.9:g.96479776_96479789dup, NC_000005.9:g.96479789_96479790insTTTTTTTTTTTTTTTTTTTTT
        4.

        rs1491229851 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GA>- [Show Flanks]
          Chromosome:
          5:97115772 (GRCh38)
          5:96451476 (GRCh37)
          Canonical SPDI:
          NC_000005.10:97115770:AGA:A
          Gene:
          LIX1 (Varview), LIX1-AS1 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1491151694 has merged into rs3041175 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
            Chromosome:
            5:97117933 (GRCh38)
            5:96453637 (GRCh37)
            Canonical SPDI:
            NC_000005.10:97117921:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:97117921:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:97117921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:97117921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:97117921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:97117921:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
            Gene:
            LIX1 (Varview), LIX1-AS1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAA=0./0 (ALFA)
            -=0.3288/194 (NorthernSweden)
            AA=0.4974/2491 (1000Genomes)
            HGVS:
            6.

            rs1491086883 has merged into rs140818193 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              5:97144082 (GRCh38)
              5:96479786 (GRCh37)
              Canonical SPDI:
              NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:97144067:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              LIX1 (Varview), LIX1-AS1 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
              -=0.01171/7 (NorthernSweden)
              T=0.25/2 (KOREAN)
              HGVS:
              NC_000005.10:g.97144082_97144085del, NC_000005.10:g.97144083_97144085del, NC_000005.10:g.97144084_97144085del, NC_000005.10:g.97144085del, NC_000005.10:g.97144085dup, NC_000005.10:g.97144084_97144085dup, NC_000005.10:g.97144083_97144085dup, NC_000005.10:g.97144082_97144085dup, NC_000005.10:g.97144080_97144085dup, NC_000005.10:g.97144079_97144085dup, NC_000005.10:g.97144078_97144085dup, NC_000005.10:g.97144077_97144085dup, NC_000005.10:g.97144076_97144085dup, NC_000005.10:g.97144075_97144085dup, NC_000005.10:g.97144074_97144085dup, NC_000005.10:g.97144073_97144085dup, NC_000005.10:g.97144072_97144085dup, NC_000005.10:g.97144085_97144086insTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.96479786_96479789del, NC_000005.9:g.96479787_96479789del, NC_000005.9:g.96479788_96479789del, NC_000005.9:g.96479789del, NC_000005.9:g.96479789dup, NC_000005.9:g.96479788_96479789dup, NC_000005.9:g.96479787_96479789dup, NC_000005.9:g.96479786_96479789dup, NC_000005.9:g.96479784_96479789dup, NC_000005.9:g.96479783_96479789dup, NC_000005.9:g.96479782_96479789dup, NC_000005.9:g.96479781_96479789dup, NC_000005.9:g.96479780_96479789dup, NC_000005.9:g.96479779_96479789dup, NC_000005.9:g.96479778_96479789dup, NC_000005.9:g.96479777_96479789dup, NC_000005.9:g.96479776_96479789dup, NC_000005.9:g.96479789_96479790insTTTTTTTTTTTTTTTTTTTTT
              7.

              rs1490967115 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                5:97093865 (GRCh38)
                5:96429569 (GRCh37)
                Canonical SPDI:
                NC_000005.10:97093864:G:A
                Gene:
                LIX1 (Varview), LIX1-AS1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490894414 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  5:97119337 (GRCh38)
                  5:96455041 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:97119336:T:G
                  Gene:
                  LIX1 (Varview), LIX1-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490837259 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    5:97128258 (GRCh38)
                    5:96463962 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:97128257:T:A
                    Gene:
                    LIX1 (Varview), LIX1-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490808881 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      5:97111899 (GRCh38)
                      5:96447603 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:97111898:C:A
                      Gene:
                      LIX1 (Varview), LIX1-AS1 (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:
                      11.

                      rs1490773391 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        5:97110753 (GRCh38)
                        5:96446458 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:97110753:TTTT:TTTTT
                        Gene:
                        LIX1 (Varview), LIX1-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TTTTT=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490673824 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          5:97128780 (GRCh38)
                          5:96464484 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:97128779:A:C,NC_000005.10:97128779:A:G
                          Gene:
                          LIX1 (Varview), LIX1-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          G=0.000672/11 (TOMMO)
                          HGVS:
                          13.

                          rs1490610389 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            5:97111304 (GRCh38)
                            5:96447008 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:97111303:A:T
                            Gene:
                            LIX1 (Varview), LIX1-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490597027 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              5:97142505 (GRCh38)
                              5:96478209 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:97142504:G:T
                              Gene:
                              LIX1 (Varview), LIX1-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1490541586 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GTCT>- [Show Flanks]
                                Chromosome:
                                5:97129702 (GRCh38)
                                5:96465406 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:97129699:CTGTCT:CT
                                Gene:
                                LIX1 (Varview), LIX1-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                CT=0./0 (ALFA)
                                -=0.000019/5 (TOPMED)
                                HGVS:
                                16.

                                rs1490440124 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  5:97120638 (GRCh38)
                                  5:96456342 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:97120637:G:A
                                  Gene:
                                  LIX1 (Varview), LIX1-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490403741 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    5:97093947 (GRCh38)
                                    5:96429651 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:97093946:G:C
                                    Gene:
                                    LIX1 (Varview), LIX1-AS1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490343674 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      5:97141013 (GRCh38)
                                      5:96476717 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:97141012:T:G
                                      Gene:
                                      LIX1 (Varview), LIX1-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000029/4 (GnomAD)
                                      G=0.000049/13 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490303332 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        5:97137964 (GRCh38)
                                        5:96473668 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:97137963:C:G
                                        Gene:
                                        LIX1 (Varview), LIX1-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490264756 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          5:97095918 (GRCh38)
                                          5:96431622 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:97095917:A:G
                                          Gene:
                                          LIX1 (Varview), LIX1-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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