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Items: 1 to 20 of 16083

1.

rs1491585388 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GAG [Show Flanks]
    Chromosome:
    22:30019185 (GRCh38)
    22:30415175 (GRCh37)
    Canonical SPDI:
    NC_000022.11:30019185:GAG:GAGGAG
    Gene:
    MTMR3 (Varview), HORMAD2-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    GAGGAG=0./0 (ALFA)
    GAG=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1491552898 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->CCC,CCCTCCCTCCTTCCC,CCG,CCTTCCC [Show Flanks]
      Chromosome:
      22:30015514 (GRCh38)
      22:30411504 (GRCh37)
      Canonical SPDI:
      NC_000022.11:30015514::CCC,NC_000022.11:30015514::CCCTCCCTCCTTCCC,NC_000022.11:30015514::CCG,NC_000022.11:30015514::CCTTCCC
      Gene:
      MTMR3 (Varview), HORMAD2-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CCTTCCC=0.00674/15 (ALFA)
      CCG=0.00008/2 (TOMMO)
      HGVS:
      3.

      rs1491364733 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        22:30060450 (GRCh38)
        22:30456439 (GRCh37)
        Canonical SPDI:
        NC_000022.11:30060449:TA:
        Gene:
        HORMAD2-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00023/1 (ALFA)
        -=0.00001/1 (GnomAD)
        HGVS:
        4.

        rs1491297981 has merged into rs34267180 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          22:30065416 (GRCh38)
          22:30461405 (GRCh37)
          Canonical SPDI:
          NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30065401:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          HORMAD2-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAAA=0./0 (ALFA)
          -=0.4744/2376 (1000Genomes)
          HGVS:
          NC_000022.11:g.30065416_30065420del, NC_000022.11:g.30065417_30065420del, NC_000022.11:g.30065418_30065420del, NC_000022.11:g.30065419_30065420del, NC_000022.11:g.30065420del, NC_000022.11:g.30065420dup, NC_000022.11:g.30065419_30065420dup, NC_000022.11:g.30065418_30065420dup, NC_000022.11:g.30065416_30065420dup, NC_000022.11:g.30065415_30065420dup, NC_000022.11:g.30065414_30065420dup, NC_000022.11:g.30065409_30065420dup, NC_000022.11:g.30065407_30065420dup, NC_000022.11:g.30065420_30065421insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.30461405_30461409del, NC_000022.10:g.30461406_30461409del, NC_000022.10:g.30461407_30461409del, NC_000022.10:g.30461408_30461409del, NC_000022.10:g.30461409del, NC_000022.10:g.30461409dup, NC_000022.10:g.30461408_30461409dup, NC_000022.10:g.30461407_30461409dup, NC_000022.10:g.30461405_30461409dup, NC_000022.10:g.30461404_30461409dup, NC_000022.10:g.30461403_30461409dup, NC_000022.10:g.30461398_30461409dup, NC_000022.10:g.30461396_30461409dup, NC_000022.10:g.30461409_30461410insAAAAAAAAAAAAAAAAAAAAAAAAAA
          6.

          rs1491286274 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            22:30030637 (GRCh38)
            22:30426627 (GRCh37)
            Canonical SPDI:
            NC_000022.11:30030637:C:CC
            Gene:
            MTMR3 (Varview), HORMAD2-AS1 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CC=0.00075/9 (ALFA)
            C=0.00026/4 (TOMMO)
            C=0.00078/5 (1000Genomes)
            C=0.00101/87 (GnomAD)
            HGVS:
            7.

            rs1491262340 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TT>- [Show Flanks]
              Chromosome:
              22:30015514 (GRCh38)
              22:30411503 (GRCh37)
              Canonical SPDI:
              NC_000022.11:30015513:TT:
              Gene:
              MTMR3 (Varview), HORMAD2-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              -=0.00011/2 (TOMMO)
              HGVS:
              8.

              rs1491197639 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AG>- [Show Flanks]
                Chromosome:
                22:30019187 (GRCh38)
                22:30415176 (GRCh37)
                Canonical SPDI:
                NC_000022.11:30019184:AGAG:AG
                Gene:
                MTMR3 (Varview), HORMAD2-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AGAG=0.000214/3 (ALFA)
                -=0.00006/8 (GnomAD)
                -=0.000156/1 (1000Genomes)
                HGVS:
                9.

                rs1491192199 has merged into rs5844886 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGGGGG [Show Flanks]
                  Chromosome:
                  22:30030647 (GRCh38)
                  22:30426636 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:30030638:GGGGGGGGGG:GGGGGGGG,NC_000022.11:30030638:GGGGGGGGGG:GGGGGGGGG,NC_000022.11:30030638:GGGGGGGGGG:GGGGGGGGGGG,NC_000022.11:30030638:GGGGGGGGGG:GGGGGGGGGGGG,NC_000022.11:30030638:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000022.11:30030638:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000022.11:30030638:GGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000022.11:30030638:GGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000022.11:30030638:GGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000022.11:30030638:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG
                  Gene:
                  MTMR3 (Varview), HORMAD2-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GGGGGGGGGGGGGGGG=0./0 (ALFA)
                  -=0.05/2 (GENOME_DK)
                  -=0.125/1 (KOREAN)
                  HGVS:
                  NC_000022.11:g.30030647_30030648del, NC_000022.11:g.30030648del, NC_000022.11:g.30030648dup, NC_000022.11:g.30030647_30030648dup, NC_000022.11:g.30030646_30030648dup, NC_000022.11:g.30030645_30030648dup, NC_000022.11:g.30030644_30030648dup, NC_000022.11:g.30030643_30030648dup, NC_000022.11:g.30030642_30030648dup, NC_000022.11:g.30030648_30030649insGGGGGGGGGGG, NC_000022.10:g.30426636_30426637del, NC_000022.10:g.30426637del, NC_000022.10:g.30426637dup, NC_000022.10:g.30426636_30426637dup, NC_000022.10:g.30426635_30426637dup, NC_000022.10:g.30426634_30426637dup, NC_000022.10:g.30426633_30426637dup, NC_000022.10:g.30426632_30426637dup, NC_000022.10:g.30426631_30426637dup, NC_000022.10:g.30426637_30426638insGGGGGGGGGGG, NM_021090.4:c.*4846_*4847del, NM_021090.4:c.*4847del, NM_021090.4:c.*4847dup, NM_021090.4:c.*4846_*4847dup, NM_021090.4:c.*4845_*4847dup, NM_021090.4:c.*4844_*4847dup, NM_021090.4:c.*4843_*4847dup, NM_021090.4:c.*4842_*4847dup, NM_021090.4:c.*4841_*4847dup, NM_021090.4:c.*4847_*4848insGGGGGGGGGGG, NM_021090.3:c.*4846_*4847del, NM_021090.3:c.*4847del, NM_021090.3:c.*4847dup, NM_021090.3:c.*4846_*4847dup, NM_021090.3:c.*4845_*4847dup, NM_021090.3:c.*4844_*4847dup, NM_021090.3:c.*4843_*4847dup, NM_021090.3:c.*4842_*4847dup, NM_021090.3:c.*4841_*4847dup, NM_021090.3:c.*4847_*4848insGGGGGGGGGGG, NM_153050.3:c.*4846_*4847del, NM_153050.3:c.*4847del, NM_153050.3:c.*4847dup, NM_153050.3:c.*4846_*4847dup, NM_153050.3:c.*4845_*4847dup, NM_153050.3:c.*4844_*4847dup, NM_153050.3:c.*4843_*4847dup, NM_153050.3:c.*4842_*4847dup, NM_153050.3:c.*4841_*4847dup, NM_153050.3:c.*4847_*4848insGGGGGGGGGGG, NM_153050.2:c.*4846_*4847del, NM_153050.2:c.*4847del, NM_153050.2:c.*4847dup, NM_153050.2:c.*4846_*4847dup, NM_153050.2:c.*4845_*4847dup, NM_153050.2:c.*4844_*4847dup, NM_153050.2:c.*4843_*4847dup, NM_153050.2:c.*4842_*4847dup, NM_153050.2:c.*4841_*4847dup, NM_153050.2:c.*4847_*4848insGGGGGGGGGGG, NM_153051.3:c.*4846_*4847del, NM_153051.3:c.*4847del, NM_153051.3:c.*4847dup, NM_153051.3:c.*4846_*4847dup, NM_153051.3:c.*4845_*4847dup, NM_153051.3:c.*4844_*4847dup, NM_153051.3:c.*4843_*4847dup, NM_153051.3:c.*4842_*4847dup, NM_153051.3:c.*4841_*4847dup, NM_153051.3:c.*4847_*4848insGGGGGGGGGGG, NM_153051.2:c.*4846_*4847del, NM_153051.2:c.*4847del, NM_153051.2:c.*4847dup, NM_153051.2:c.*4846_*4847dup, NM_153051.2:c.*4845_*4847dup, NM_153051.2:c.*4844_*4847dup, NM_153051.2:c.*4843_*4847dup, NM_153051.2:c.*4842_*4847dup, NM_153051.2:c.*4841_*4847dup, NM_153051.2:c.*4847_*4848insGGGGGGGGGGG
                  10.

                  rs1491188610 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CG>- [Show Flanks]
                    Chromosome:
                    22:30030638 (GRCh38)
                    22:30426627 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:30030636:GCG:G
                    Gene:
                    MTMR3 (Varview), HORMAD2-AS1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    11.

                    rs1491153155 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      22:30045836 (GRCh38)
                      22:30441826 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:30045836::A
                      Gene:
                      HORMAD2-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      12.

                      rs1491104654 has merged into rs11340475 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        22:30060456 (GRCh38)
                        22:30456445 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:30060450:AAAAAAAAAAAAAA:AAAAA,NC_000022.11:30060450:AAAAAAAAAAAAAA:AAAAAAA,NC_000022.11:30060450:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:30060450:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:30060450:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:30060450:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:30060450:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:30060450:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
                        Gene:
                        HORMAD2-AS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAA=0./0 (ALFA)
                        -=0.2103/1053 (1000Genomes)
                        -=0.2651/158 (NorthernSweden)
                        -=0.3394/1308 (ALSPAC)
                        -=0.3565/1322 (TWINSUK)
                        -=0.425/17 (GENOME_DK)
                        HGVS:
                        13.

                        rs1491085397 has merged into rs35663209 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAAAAAAAAAA>-,AA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
                          Chromosome:
                          22:30049993 (GRCh38)
                          22:30445982 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30049986:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          HORMAD2-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAA=0./0 (ALFA)
                          -=0.3368/1298 (ALSPAC)
                          A=0.3828/1917 (1000Genomes)
                          HGVS:
                          NC_000022.11:g.30049993_30050005del, NC_000022.11:g.30049995_30050005del, NC_000022.11:g.30049998_30050005del, NC_000022.11:g.30049999_30050005del, NC_000022.11:g.30050001_30050005del, NC_000022.11:g.30050002_30050005del, NC_000022.11:g.30050003_30050005del, NC_000022.11:g.30050004_30050005del, NC_000022.11:g.30050005del, NC_000022.11:g.30050005dup, NC_000022.11:g.30050004_30050005dup, NC_000022.11:g.30050003_30050005dup, NC_000022.11:g.30050001_30050005dup, NC_000022.11:g.30050000_30050005dup, NC_000022.11:g.30049999_30050005dup, NC_000022.10:g.30445982_30445994del, NC_000022.10:g.30445984_30445994del, NC_000022.10:g.30445987_30445994del, NC_000022.10:g.30445988_30445994del, NC_000022.10:g.30445990_30445994del, NC_000022.10:g.30445991_30445994del, NC_000022.10:g.30445992_30445994del, NC_000022.10:g.30445993_30445994del, NC_000022.10:g.30445994del, NC_000022.10:g.30445994dup, NC_000022.10:g.30445993_30445994dup, NC_000022.10:g.30445992_30445994dup, NC_000022.10:g.30445990_30445994dup, NC_000022.10:g.30445989_30445994dup, NC_000022.10:g.30445988_30445994dup
                          14.

                          rs1491061998 has merged into rs59328862 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            22:30056805 (GRCh38)
                            22:30452794 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:30056793:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            HORMAD2-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAA=0./0 (ALFA)
                            AAAAAAAAAAAAAA=0./0 (GENOME_DK)
                            AAAAAA=0.477/2389 (1000Genomes)
                            HGVS:
                            NC_000022.11:g.30056805_30056822del, NC_000022.11:g.30056806_30056822del, NC_000022.11:g.30056807_30056822del, NC_000022.11:g.30056808_30056822del, NC_000022.11:g.30056809_30056822del, NC_000022.11:g.30056810_30056822del, NC_000022.11:g.30056811_30056822del, NC_000022.11:g.30056812_30056822del, NC_000022.11:g.30056813_30056822del, NC_000022.11:g.30056814_30056822del, NC_000022.11:g.30056815_30056822del, NC_000022.11:g.30056816_30056822del, NC_000022.11:g.30056817_30056822del, NC_000022.11:g.30056818_30056822del, NC_000022.11:g.30056819_30056822del, NC_000022.11:g.30056820_30056822del, NC_000022.11:g.30056821_30056822del, NC_000022.11:g.30056822del, NC_000022.11:g.30056822dup, NC_000022.11:g.30056821_30056822dup, NC_000022.11:g.30056820_30056822dup, NC_000022.11:g.30056819_30056822dup, NC_000022.11:g.30056818_30056822dup, NC_000022.11:g.30056817_30056822dup, NC_000022.11:g.30056816_30056822dup, NC_000022.11:g.30056815_30056822dup, NC_000022.11:g.30056814_30056822dup, NC_000022.11:g.30056813_30056822dup, NC_000022.11:g.30056812_30056822dup, NC_000022.11:g.30056811_30056822dup, NC_000022.11:g.30056810_30056822dup, NC_000022.11:g.30056809_30056822dup, NC_000022.11:g.30056808_30056822dup, NC_000022.11:g.30056807_30056822dup, NC_000022.11:g.30056806_30056822dup, NC_000022.11:g.30056805_30056822dup, NC_000022.11:g.30056794_30056822A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000022.10:g.30452794_30452811del, NC_000022.10:g.30452795_30452811del, NC_000022.10:g.30452796_30452811del, NC_000022.10:g.30452797_30452811del, NC_000022.10:g.30452798_30452811del, NC_000022.10:g.30452799_30452811del, NC_000022.10:g.30452800_30452811del, NC_000022.10:g.30452801_30452811del, NC_000022.10:g.30452802_30452811del, NC_000022.10:g.30452803_30452811del, NC_000022.10:g.30452804_30452811del, NC_000022.10:g.30452805_30452811del, NC_000022.10:g.30452806_30452811del, NC_000022.10:g.30452807_30452811del, NC_000022.10:g.30452808_30452811del, NC_000022.10:g.30452809_30452811del, NC_000022.10:g.30452810_30452811del, NC_000022.10:g.30452811del, NC_000022.10:g.30452811dup, NC_000022.10:g.30452810_30452811dup, NC_000022.10:g.30452809_30452811dup, NC_000022.10:g.30452808_30452811dup, NC_000022.10:g.30452807_30452811dup, NC_000022.10:g.30452806_30452811dup, NC_000022.10:g.30452805_30452811dup, NC_000022.10:g.30452804_30452811dup, NC_000022.10:g.30452803_30452811dup, NC_000022.10:g.30452802_30452811dup, NC_000022.10:g.30452801_30452811dup, NC_000022.10:g.30452800_30452811dup, NC_000022.10:g.30452799_30452811dup, NC_000022.10:g.30452798_30452811dup, NC_000022.10:g.30452797_30452811dup, NC_000022.10:g.30452796_30452811dup, NC_000022.10:g.30452795_30452811dup, NC_000022.10:g.30452794_30452811dup, NC_000022.10:g.30452783_30452811A[33]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
                            15.

                            rs1491025886 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TG>- [Show Flanks]
                              Chromosome:
                              22:30019189 (GRCh38)
                              22:30415178 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:30019187:GTG:G
                              Gene:
                              MTMR3 (Varview), HORMAD2-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:
                              16.

                              rs1491003672 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                22:30045618 (GRCh38)
                                22:30441607 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:30045617:G:A
                                Gene:
                                HORMAD2-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000068/18 (TOPMED)
                                A=0.000086/12 (GnomAD)
                                A=0.000156/1 (1000Genomes)
                                HGVS:
                                17.

                                rs1490942223 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->ATATAACTACAAAGCTAAA [Show Flanks]
                                  Chromosome:
                                  22:30064969 (GRCh38)
                                  22:30460959 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:30064969:TAACTACAAAGCTAAA:TAACTACAAAGCTAAAATATAACTACAAAGCTAAA
                                  Gene:
                                  HORMAD2-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TAACTACAAAGCTAAAATATAACTACAAAGCTAAA=0./0 (ALFA)
                                  TAACTACAAAGCTAAAATA=0.000004/1 (TOPMED)
                                  TAACTACAAAGCTAAAATA=0.000007/1 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1490925136 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:30049313 (GRCh38)
                                    22:30445302 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:30049312:G:A
                                    Gene:
                                    HORMAD2-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1490911984 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      22:30065931 (GRCh38)
                                      22:30461920 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:30065930:A:G
                                      Gene:
                                      HORMAD2-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1490891506 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        22:30019654 (GRCh38)
                                        22:30415643 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:30019653:C:T
                                        Gene:
                                        MTMR3 (Varview), HORMAD2-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,synonymous_variant
                                        HGVS:

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