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Items: 1 to 20 of 14937

1.

rs1491574338 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->ATC,CTC,CTCTTCCTC [Show Flanks]
    Chromosome:
    2:26589099 (GRCh38)
    2:26811968 (GRCh37)
    Canonical SPDI:
    NC_000002.12:26589099:TC:TCATC,NC_000002.12:26589099:TC:TCCTC,NC_000002.12:26589099:TC:TCCTCTTCCTC
    Gene:
    CIB4 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TCCTC=0.00658/78 (ALFA)
    TCCTCTTCC=0.00003/2 (GnomAD)
    TCC=0.13529/2172 (TOMMO)
    HGVS:
    2.

    rs1491551752 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      2:26593444 (GRCh38)
      2:26816313 (GRCh37)
      Canonical SPDI:
      NC_000002.12:26593444::A
      Gene:
      CIB4 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency
      MAF:
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1491526224 [Homo sapiens]
        Variant type:
        SNV:
        Alleles:
        TT>-
        Chromosome:
        no mapping
        Canonical SPDI:
        4.

        rs1491513674 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TT>- [Show Flanks]
          Chromosome:
          2:26589075 (GRCh38)
          2:26811943 (GRCh37)
          Canonical SPDI:
          NC_000002.12:26589074:TT:
          Gene:
          CIB4 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency
          MAF:
          -=0.00035/17 (GnomAD)
          HGVS:
          5.

          rs1491476305 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            2:26589093 (GRCh38)
            2:26811961 (GRCh37)
            Canonical SPDI:
            NC_000002.12:26589092:TT:
            Gene:
            CIB4 (Varview)
            Functional Consequence:
            intron_variant
            HGVS:
            6.

            rs1491462287 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CTC [Show Flanks]
              Chromosome:
              2:26589087 (GRCh38)
              2:26811956 (GRCh37)
              Canonical SPDI:
              NC_000002.12:26589087:TC:TCCTC
              Gene:
              CIB4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TCCTC=0./0 (ALFA)
              TCC=0.00013/11 (GnomAD)
              TCC=0.00105/17 (TOMMO)
              HGVS:
              7.

              rs1491449058 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CT>- [Show Flanks]
                Chromosome:
                2:26588990 (GRCh38)
                2:26811858 (GRCh37)
                Canonical SPDI:
                NC_000002.12:26588988:TCT:T
                Gene:
                CIB4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                -=0.03898/590 (TOMMO)
                -=0.10893/61 (NorthernSweden)
                -=0.27586/10086 (GnomAD)
                HGVS:
                8.

                rs1491434954 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->A,ATA [Show Flanks]
                  Chromosome:
                  2:26624855 (GRCh38)
                  2:26847724 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:26624855::A,NC_000002.12:26624855::ATA
                  Gene:
                  CIB4 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ATA=0./0 (ALFA)
                  ATA=0.000008/2 (TOPMED)
                  A=0.00134/6 (Estonian)
                  A=0.002265/38 (TOMMO)
                  HGVS:
                  9.

                  rs1491422228 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    2:26600071 (GRCh38)
                    2:26822939 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:26600070:CA:
                    Gene:
                    CIB4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00152/18 (ALFA)
                    HGVS:
                    10.

                    rs1491401325 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CCT [Show Flanks]
                      Chromosome:
                      2:26588989 (GRCh38)
                      2:26811858 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:26588989:CT:CTCCT
                      Gene:
                      CIB4 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CTCCT=0./0 (ALFA)
                      CTC=0.00971/60 (GnomAD)
                      HGVS:
                      11.

                      rs1491339537 has merged into rs34295840 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        2:26608252 (GRCh38)
                        2:26831120 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26608239:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        CIB4 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAAAA=0./0 (ALFA)
                        AA=0.1034/518 (1000Genomes)
                        HGVS:
                        NC_000002.12:g.26608252_26608257del, NC_000002.12:g.26608253_26608257del, NC_000002.12:g.26608254_26608257del, NC_000002.12:g.26608255_26608257del, NC_000002.12:g.26608256_26608257del, NC_000002.12:g.26608257del, NC_000002.12:g.26608257dup, NC_000002.12:g.26608256_26608257dup, NC_000002.12:g.26608255_26608257dup, NC_000002.12:g.26608254_26608257dup, NC_000002.12:g.26608253_26608257dup, NC_000002.12:g.26608252_26608257dup, NC_000002.12:g.26608245_26608257dup, NC_000002.11:g.26831120_26831125del, NC_000002.11:g.26831121_26831125del, NC_000002.11:g.26831122_26831125del, NC_000002.11:g.26831123_26831125del, NC_000002.11:g.26831124_26831125del, NC_000002.11:g.26831125del, NC_000002.11:g.26831125dup, NC_000002.11:g.26831124_26831125dup, NC_000002.11:g.26831123_26831125dup, NC_000002.11:g.26831122_26831125dup, NC_000002.11:g.26831121_26831125dup, NC_000002.11:g.26831120_26831125dup, NC_000002.11:g.26831113_26831125dup
                        12.

                        rs1491313714 has merged into rs34881604 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
                          Chromosome:
                          2:26600083 (GRCh38)
                          2:26822951 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:26600071:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:26600071:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:26600071:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:26600071:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:26600071:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:26600071:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:26600071:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:26600071:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:26600071:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                          Gene:
                          CIB4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAAAAA=0./0 (ALFA)
                          AA=0.0467/234 (1000Genomes)
                          AA=0.0972/55 (NorthernSweden)
                          HGVS:
                          13.

                          rs1491300536 has merged into rs869097756 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            2:26590271 (GRCh38)
                            2:26813139 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26590258:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            CIB4 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAA=0./0 (ALFA)
                            HGVS:
                            NC_000002.12:g.26590271_26590284del, NC_000002.12:g.26590272_26590284del, NC_000002.12:g.26590273_26590284del, NC_000002.12:g.26590274_26590284del, NC_000002.12:g.26590275_26590284del, NC_000002.12:g.26590276_26590284del, NC_000002.12:g.26590277_26590284del, NC_000002.12:g.26590278_26590284del, NC_000002.12:g.26590279_26590284del, NC_000002.12:g.26590280_26590284del, NC_000002.12:g.26590281_26590284del, NC_000002.12:g.26590282_26590284del, NC_000002.12:g.26590283_26590284del, NC_000002.12:g.26590284del, NC_000002.12:g.26590284dup, NC_000002.12:g.26590283_26590284dup, NC_000002.12:g.26590282_26590284dup, NC_000002.12:g.26590281_26590284dup, NC_000002.12:g.26590280_26590284dup, NC_000002.12:g.26590279_26590284dup, NC_000002.12:g.26590278_26590284dup, NC_000002.12:g.26590277_26590284dup, NC_000002.12:g.26590276_26590284dup, NC_000002.12:g.26590275_26590284dup, NC_000002.12:g.26590274_26590284dup, NC_000002.12:g.26590273_26590284dup, NC_000002.12:g.26590269_26590284dup, NC_000002.12:g.26590267_26590284dup, NC_000002.12:g.26590266_26590284dup, NC_000002.12:g.26590265_26590284dup, NC_000002.12:g.26590264_26590284dup, NC_000002.12:g.26590263_26590284dup, NC_000002.12:g.26590261_26590284dup, NC_000002.12:g.26590260_26590284dup, NC_000002.12:g.26590284_26590285insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.26813139_26813152del, NC_000002.11:g.26813140_26813152del, NC_000002.11:g.26813141_26813152del, NC_000002.11:g.26813142_26813152del, NC_000002.11:g.26813143_26813152del, NC_000002.11:g.26813144_26813152del, NC_000002.11:g.26813145_26813152del, NC_000002.11:g.26813146_26813152del, NC_000002.11:g.26813147_26813152del, NC_000002.11:g.26813148_26813152del, NC_000002.11:g.26813149_26813152del, NC_000002.11:g.26813150_26813152del, NC_000002.11:g.26813151_26813152del, NC_000002.11:g.26813152del, NC_000002.11:g.26813152dup, NC_000002.11:g.26813151_26813152dup, NC_000002.11:g.26813150_26813152dup, NC_000002.11:g.26813149_26813152dup, NC_000002.11:g.26813148_26813152dup, NC_000002.11:g.26813147_26813152dup, NC_000002.11:g.26813146_26813152dup, NC_000002.11:g.26813145_26813152dup, NC_000002.11:g.26813144_26813152dup, NC_000002.11:g.26813143_26813152dup, NC_000002.11:g.26813142_26813152dup, NC_000002.11:g.26813141_26813152dup, NC_000002.11:g.26813137_26813152dup, NC_000002.11:g.26813135_26813152dup, NC_000002.11:g.26813134_26813152dup, NC_000002.11:g.26813133_26813152dup, NC_000002.11:g.26813132_26813152dup, NC_000002.11:g.26813131_26813152dup, NC_000002.11:g.26813129_26813152dup, NC_000002.11:g.26813128_26813152dup, NC_000002.11:g.26813152_26813153insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            14.

                            rs1491264761 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->CTC,CTCTTCCTC [Show Flanks]
                              Chromosome:
                              2:26589075 (GRCh38)
                              2:26811944 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:26589075:TC:TCCTC,NC_000002.12:26589075:TC:TCCTCTTCCTC
                              Gene:
                              CIB4 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TCCTC=0.00017/2 (ALFA)
                              TCC=0.00093/15 (TOMMO)
                              HGVS:
                              15.

                              rs1491255625 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CC>- [Show Flanks]
                                Chromosome:
                                2:26593445 (GRCh38)
                                2:26816313 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:26593443:CCC:C
                                Gene:
                                CIB4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000224/1 (ALFA)
                                -=0.000248/34 (GnomAD)
                                HGVS:
                                16.

                                rs1491251724 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CA>- [Show Flanks]
                                  Chromosome:
                                  2:26608239 (GRCh38)
                                  2:26831107 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:26608238:CA:
                                  Gene:
                                  CIB4 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0.00118/14 (ALFA)
                                  HGVS:
                                  17.

                                  rs1491209975 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->TGCA [Show Flanks]
                                    Chromosome:
                                    2:26595893 (GRCh38)
                                    2:26818762 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:26595893::TGCA
                                    Gene:
                                    CIB4 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    TGCA=0./0 (ALFA)
                                    TGCA=0.00012/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491176017 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      TT>- [Show Flanks]
                                      Chromosome:
                                      2:26589099 (GRCh38)
                                      2:26811967 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:26589098:TT:
                                      Gene:
                                      CIB4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      -=0.001647/179 (GnomAD)
                                      -=0.001667/1 (NorthernSweden)
                                      HGVS:
                                      19.

                                      rs1491161798 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->CCTTCTTCT [Show Flanks]
                                        Chromosome:
                                        2:26588983 (GRCh38)
                                        2:26811852 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:26588983:CTTCTTCT:CTTCTTCTCCTTCTTCT
                                        Gene:
                                        CIB4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        HGVS:
                                        20.

                                        rs1491140537 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          GA>- [Show Flanks]
                                          Chromosome:
                                          2:26621252 (GRCh38)
                                          2:26844120 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:26621251:GA:
                                          Gene:
                                          CIB4 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          -=0.0003/1 (TWINSUK)
                                          -=0.001/4 (ALSPAC)
                                          HGVS:

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