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1.

rs1491584811 has merged into rs374144791 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
    Chromosome:
    12:50924524 (GRCh38)
    12:51318307 (GRCh37)
    Canonical SPDI:
    NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:50924516:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
    Gene:
    METTL7A (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTT=0./0 (ALFA)
    HGVS:
    2.

    rs1491501985 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CT>- [Show Flanks]
      Chromosome:
      12:50923452 (GRCh38)
      12:51317235 (GRCh37)
      Canonical SPDI:
      NC_000012.12:50923450:TCT:T
      Gene:
      METTL7A (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      3.

      rs1491329768 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        12:50924529 (GRCh38)
        12:51318312 (GRCh37)
        Canonical SPDI:
        NC_000012.12:50924528:TA:
        Gene:
        METTL7A (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00042/5 (ALFA)
        -=0.00044/24 (GnomAD)
        HGVS:
        4.

        rs1491313815 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->TA,TAA,TAAA,TAAAA [Show Flanks]
          Chromosome:
          12:50924529 (GRCh38)
          12:51318313 (GRCh37)
          Canonical SPDI:
          NC_000012.12:50924529::TA,NC_000012.12:50924529::TAA,NC_000012.12:50924529::TAAA,NC_000012.12:50924529::TAAAA
          Gene:
          METTL7A (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TAAA=0./0 (ALFA)
          TAAA=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1491223461 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TA>- [Show Flanks]
            Chromosome:
            12:50923472 (GRCh38)
            12:51317255 (GRCh37)
            Canonical SPDI:
            NC_000012.12:50923471:TA:
            Gene:
            METTL7A (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:
            6.

            rs1491217642 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              12:50924516 (GRCh38)
              12:51318299 (GRCh37)
              Canonical SPDI:
              NC_000012.12:50924515:CT:
              Gene:
              METTL7A (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              HGVS:
              7.

              rs1491203006 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                12:50923034 (GRCh38)
                12:51316818 (GRCh37)
                Canonical SPDI:
                NC_000012.12:50923034::T
                Gene:
                METTL7A (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1491128475 has merged into rs72460124 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  12:50923460 (GRCh38)
                  12:51317243 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:50923452:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  METTL7A (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTT=0./0 (ALFA)
                  T=0.3536/1771 (1000Genomes)
                  HGVS:
                  NC_000012.12:g.50923460_50923472del, NC_000012.12:g.50923464_50923472del, NC_000012.12:g.50923465_50923472del, NC_000012.12:g.50923466_50923472del, NC_000012.12:g.50923467_50923472del, NC_000012.12:g.50923468_50923472del, NC_000012.12:g.50923469_50923472del, NC_000012.12:g.50923470_50923472del, NC_000012.12:g.50923471_50923472del, NC_000012.12:g.50923472del, NC_000012.12:g.50923472dup, NC_000012.12:g.50923471_50923472dup, NC_000012.12:g.50923472_50923473insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.51317243_51317255del, NC_000012.11:g.51317247_51317255del, NC_000012.11:g.51317248_51317255del, NC_000012.11:g.51317249_51317255del, NC_000012.11:g.51317250_51317255del, NC_000012.11:g.51317251_51317255del, NC_000012.11:g.51317252_51317255del, NC_000012.11:g.51317253_51317255del, NC_000012.11:g.51317254_51317255del, NC_000012.11:g.51317255del, NC_000012.11:g.51317255dup, NC_000012.11:g.51317254_51317255dup, NC_000012.11:g.51317255_51317256insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  9.

                  rs1491110335 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->C [Show Flanks]
                    Chromosome:
                    12:50923451 (GRCh38)
                    12:51317235 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:50923451:C:CC
                    Gene:
                    METTL7A (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CC=0./0 (ALFA)
                    C=0.00002/2 (GnomAD)
                    HGVS:
                    10.

                    rs1490298170 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      12:50929146 (GRCh38)
                      12:51322929 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:50929145:G:A
                      Gene:
                      METTL7A (Varview), HIGD1C (Varview)
                      Functional Consequence:
                      intron_variant,2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1490104860 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        12:50928145 (GRCh38)
                        12:51321928 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:50928144:T:G
                        Gene:
                        METTL7A (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000071/1 (ALFA)
                        G=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489824434 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          12:50925677 (GRCh38)
                          12:51319460 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:50925676:C:T
                          Gene:
                          METTL7A (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489763985 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            12:50925665 (GRCh38)
                            12:51319448 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:50925664:T:A
                            Gene:
                            METTL7A (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489669884 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              12:50922437 (GRCh38)
                              12:51316220 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:50922436:C:A,NC_000012.12:50922436:C:T
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000142/2 (ALFA)
                              T=0.000036/5 (GnomAD)
                              T=0.000038/10 (TOPMED)
                              A=0.00006/1 (TOMMO)
                              HGVS:
                              15.

                              rs1489290132 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                12:50929337 (GRCh38)
                                12:51323120 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:50929336:A:G
                                Gene:
                                METTL7A (Varview), HIGD1C (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489209250 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  12:50921821 (GRCh38)
                                  12:51315604 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:50921820:C:G,NC_000012.12:50921820:C:T
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489168790 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:50929727 (GRCh38)
                                    12:51323510 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:50929726:C:T
                                    Gene:
                                    METTL7A (Varview), HIGD1C (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489025190 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      12:50930415 (GRCh38)
                                      12:51324198 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:50930414:G:T
                                      Gene:
                                      METTL7A (Varview), HIGD1C (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1488761519 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        12:50928676 (GRCh38)
                                        12:51322459 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:50928675:T:G
                                        Gene:
                                        METTL7A (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1488468604 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,G [Show Flanks]
                                          Chromosome:
                                          12:50930277 (GRCh38)
                                          12:51324060 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:50930276:T:A,NC_000012.12:50930276:T:G
                                          Gene:
                                          METTL7A (Varview), HIGD1C (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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