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Items: 1 to 20 of 15513

1.

rs1491546227 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TT>- [Show Flanks]
    Chromosome:
    2:233787751 (GRCh38)
    2:234696397 (GRCh37)
    Canonical SPDI:
    NC_000002.12:233787750:TT:
    Gene:
    MROH2A (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491510013 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      2:233787586 (GRCh38)
      2:234696232 (GRCh37)
      Canonical SPDI:
      NC_000002.12:233787584:ACA:A
      Gene:
      MROH2A (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      -=0.01682/187 (TOMMO)
      -=0.03438/33 (Korea1K)
      HGVS:
      3.

      rs1491466821 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        2:233787576 (GRCh38)
        2:234696222 (GRCh37)
        Canonical SPDI:
        NC_000002.12:233787568:TATATATAT:TATATAT
        Gene:
        MROH2A (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        TATATAT=0.00008/1 (ALFA)
        HGVS:
        4.

        rs1491462693 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AA>- [Show Flanks]
          Chromosome:
          2:233787794 (GRCh38)
          2:234696440 (GRCh37)
          Canonical SPDI:
          NC_000002.12:233787793:AA:
          Gene:
          MROH2A (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          HGVS:
          5.

          rs1491440603 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            2:233787827 (GRCh38)
            2:234696473 (GRCh37)
            Canonical SPDI:
            NC_000002.12:233787826:TT:
            Gene:
            MROH2A (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by cluster
            MAF:
            -=0.00015/2 (TOMMO)
            HGVS:
            6.

            rs1491439149 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->TATATAT [Show Flanks]
              Chromosome:
              2:233787587 (GRCh38)
              2:234696234 (GRCh37)
              Canonical SPDI:
              NC_000002.12:233787587:TATATAT:TATATATTATATAT
              Gene:
              MROH2A (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              TATATATTATATAT=0./0 (ALFA)
              HGVS:
              7.

              rs1491424303 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->C [Show Flanks]
                Chromosome:
                2:233833681 (GRCh38)
                2:234742328 (GRCh37)
                Canonical SPDI:
                NC_000002.12:233833681:C:CC
                Gene:
                MROH2A (Varview)
                Functional Consequence:
                500B_downstream_variant,downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                CC=0./0 (ALFA)
                HGVS:
                8.

                rs1491416544 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TG>- [Show Flanks]
                  Chromosome:
                  2:233825943 (GRCh38)
                  2:234734589 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:233825942:TG:
                  Gene:
                  MROH2A (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491404213 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AT>-,ATAT [Show Flanks]
                    Chromosome:
                    2:233787759 (GRCh38)
                    2:234696405 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:233787751:TATATATAT:TATATAT,NC_000002.12:233787751:TATATATAT:TATATATATAT
                    Gene:
                    MROH2A (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TATATAT=0.00017/2 (ALFA)
                    TA=0.00012/2 (TOMMO)
                    HGVS:
                    10.

                    rs1491387564 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->TT,TTAT,TTATAT [Show Flanks]
                      Chromosome:
                      2:233787484 (GRCh38)
                      2:234696131 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:233787484::TT,NC_000002.12:233787484::TTAT,NC_000002.12:233787484::TTATAT
                      Gene:
                      MROH2A (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTATAT=0./0 (ALFA)
                      TT=0.000099/12 (GnomAD)
                      HGVS:
                      11.

                      rs1491380941 has merged into rs5839494 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTATTTATTCTTTTTTATTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTATAGATTCTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        2:233815857 (GRCh38)
                        2:234724503 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTATTTATTCTTTTTTATTTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTATAGATTCTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:233815845:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        MROH2A (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTTTTT=0./0 (ALFA)
                        TTTT=0.1977/990 (1000Genomes)
                        HGVS:
                        NC_000002.12:g.233815857_233815864del, NC_000002.12:g.233815858_233815864del, NC_000002.12:g.233815859_233815864del, NC_000002.12:g.233815860_233815864del, NC_000002.12:g.233815861_233815864del, NC_000002.12:g.233815862_233815864del, NC_000002.12:g.233815863_233815864del, NC_000002.12:g.233815864del, NC_000002.12:g.233815864dup, NC_000002.12:g.233815863_233815864dup, NC_000002.12:g.233815861_233815864dup, NC_000002.12:g.233815860_233815864dup, NC_000002.12:g.233815859_233815864dup, NC_000002.12:g.233815846_233815864T[25]ATTTATTCTTTTTTATTTTGTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.233815857_233815864dup, NC_000002.12:g.233815846_233815864T[27]ATAGATTCTGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.233815856_233815864dup, NC_000002.12:g.233815854_233815864dup, NC_000002.12:g.233815853_233815864dup, NC_000002.12:g.233815846_233815864T[31]ATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.233815846_233815864T[35]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.233815864_233815865insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.233815864_233815865insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.233815864_233815865insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.234724503_234724510del, NC_000002.11:g.234724504_234724510del, NC_000002.11:g.234724505_234724510del, NC_000002.11:g.234724506_234724510del, NC_000002.11:g.234724507_234724510del, NC_000002.11:g.234724508_234724510del, NC_000002.11:g.234724509_234724510del, NC_000002.11:g.234724510del, NC_000002.11:g.234724510dup, NC_000002.11:g.234724509_234724510dup, NC_000002.11:g.234724507_234724510dup, NC_000002.11:g.234724506_234724510dup, NC_000002.11:g.234724505_234724510dup, NC_000002.11:g.234724492_234724510T[25]ATTTATTCTTTTTTATTTTGTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.234724503_234724510dup, NC_000002.11:g.234724492_234724510T[27]ATAGATTCTGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.234724502_234724510dup, NC_000002.11:g.234724500_234724510dup, NC_000002.11:g.234724499_234724510dup, NC_000002.11:g.234724492_234724510T[31]ATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.234724492_234724510T[35]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.234724510_234724511insTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.234724510_234724511insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.234724510_234724511insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051337.1:g.45196_45203del, NG_051337.1:g.45197_45203del, NG_051337.1:g.45198_45203del, NG_051337.1:g.45199_45203del, NG_051337.1:g.45200_45203del, NG_051337.1:g.45201_45203del, NG_051337.1:g.45202_45203del, NG_051337.1:g.45203del, NG_051337.1:g.45203dup, NG_051337.1:g.45202_45203dup, NG_051337.1:g.45200_45203dup, NG_051337.1:g.45199_45203dup, NG_051337.1:g.45198_45203dup, NG_051337.1:g.45185_45203T[25]ATTTATTCTTTTTTATTTTGTTTTTTTTTTTTTTTTTTTT[1], NG_051337.1:g.45196_45203dup, NG_051337.1:g.45185_45203T[27]ATAGATTCTGTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_051337.1:g.45195_45203dup, NG_051337.1:g.45193_45203dup, NG_051337.1:g.45192_45203dup, NG_051337.1:g.45185_45203T[31]ATTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_051337.1:g.45185_45203T[35]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_051337.1:g.45203_45204insTTTTTTTTTTTTTTTTTTTTTT, NG_051337.1:g.45203_45204insTTTTTTTTTTTTTTTTTTTTTTTT, NG_051337.1:g.45203_45204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        12.

                        rs1491376765 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TC>- [Show Flanks]
                          Chromosome:
                          2:233787647 (GRCh38)
                          2:234696293 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:233787646:TC:
                          Gene:
                          MROH2A (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491363411 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AT>- [Show Flanks]
                            Chromosome:
                            2:233787750 (GRCh38)
                            2:234696396 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:233787742:TATATATAT:TATATAT
                            Gene:
                            MROH2A (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TATATAT=0.00008/1 (ALFA)
                            -=0.0001/4 (GnomAD)
                            HGVS:
                            14.

                            rs1491353957 has merged into rs1314852834 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TATA>-,TA,TATATA [Show Flanks]
                              Chromosome:
                              2:233788053 (GRCh38)
                              2:234696699 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:233788048:TATATATA:TATA,NC_000002.12:233788048:TATATATA:TATATA,NC_000002.12:233788048:TATATATA:TATATATATA
                              Gene:
                              MROH2A (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TATATA=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491342655 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TA>-,TATA [Show Flanks]
                                Chromosome:
                                2:233787902 (GRCh38)
                                2:234696548 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:233787895:TATATATA:TATATA,NC_000002.12:233787895:TATATATA:TATATATATA
                                Gene:
                                MROH2A (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TATATATATA=0./0 (ALFA)
                                -=0.00035/4 (TOMMO)
                                HGVS:
                                16.

                                rs1491337590 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  TT>- [Show Flanks]
                                  Chromosome:
                                  2:233787878 (GRCh38)
                                  2:234696524 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:233787877:TT:
                                  Gene:
                                  MROH2A (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1491331036 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->A,ACA,CA,CACATATACATATA,CATATATA [Show Flanks]
                                    Chromosome:
                                    2:233787751 (GRCh38)
                                    2:234696398 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:233787751::A,NC_000002.12:233787751::ACA,NC_000002.12:233787751::CA,NC_000002.12:233787751::CACATATACATATA,NC_000002.12:233787751::CATATATA
                                    Gene:
                                    MROH2A (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    ACA=0./0 (ALFA)
                                    CA=0.00012/2 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1491330853 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CT>- [Show Flanks]
                                      Chromosome:
                                      2:233833682 (GRCh38)
                                      2:234742328 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:233833680:TCT:T
                                      Gene:
                                      MROH2A (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000084/1 (ALFA)
                                      -=0.000056/6 (GnomAD)
                                      -=0.000072/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1491326270 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        AA>- [Show Flanks]
                                        Chromosome:
                                        2:233788145 (GRCh38)
                                        2:234696791 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:233788144:AA:
                                        Gene:
                                        MROH2A (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        HGVS:
                                        20.

                                        rs1491312864 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          TT>- [Show Flanks]
                                          Chromosome:
                                          2:233787895 (GRCh38)
                                          2:234696541 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:233787894:TT:
                                          Gene:
                                          MROH2A (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0./0 (ALFA)
                                          HGVS:

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