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Items: 1 to 20 of 469

1.

rs1488045849 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    14:20326500 (GRCh38)
    14:20794659 (GRCh37)
    Canonical SPDI:
    NC_000014.9:20326499:T:G
    Gene:
    CCNB1IP1 (Varview), SNORD126 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (TOPMED)
    HGVS:
    2.

    rs1481531666 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      14:20326369 (GRCh38)
      14:20794528 (GRCh37)
      Canonical SPDI:
      NC_000014.9:20326368:G:A
      Gene:
      CCNB1IP1 (Varview), SNORD126 (Varview)
      Functional Consequence:
      intron_variant,500B_downstream_variant,downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1476511422 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->G,GATA [Show Flanks]
        Chromosome:
        14:20327968 (GRCh38)
        14:20796128 (GRCh37)
        Canonical SPDI:
        NC_000014.9:20327968::G,NC_000014.9:20327968::GATA
        Gene:
        CCNB1IP1 (Varview), SNORD126 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        GATA=0./0 (ALFA)
        G=0.000021/3 (GnomAD)
        HGVS:
        4.

        rs1474564206 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          14:20328234 (GRCh38)
          14:20796393 (GRCh37)
          Canonical SPDI:
          NC_000014.9:20328233:T:G
          Gene:
          CCNB1IP1 (Varview), SNORD126 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1474459877 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            14:20327128 (GRCh38)
            14:20795287 (GRCh37)
            Canonical SPDI:
            NC_000014.9:20327127:C:A
            Gene:
            CCNB1IP1 (Varview), SNORD126 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000036/5 (GnomAD)
            A=0.000042/11 (TOPMED)
            HGVS:
            6.

            rs1474183557 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              14:20327262 (GRCh38)
              14:20795421 (GRCh37)
              Canonical SPDI:
              NC_000014.9:20327261:G:A,NC_000014.9:20327261:G:T
              Gene:
              CCNB1IP1 (Varview), SNORD126 (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1474090130 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                14:20327776 (GRCh38)
                14:20795935 (GRCh37)
                Canonical SPDI:
                NC_000014.9:20327775:T:G
                Gene:
                CCNB1IP1 (Varview), SNORD126 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1473369461 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  G>- [Show Flanks]
                  Chromosome:
                  14:20328516 (GRCh38)
                  14:20796675 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:20328515:GG:G
                  Gene:
                  CCNB1IP1 (Varview), SNORD126 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GG=0./0 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000035/1 (TOMMO)
                  HGVS:
                  9.

                  rs1470233135 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TA>- [Show Flanks]
                    Chromosome:
                    14:20327994 (GRCh38)
                    14:20796153 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:20327992:ATA:A
                    Gene:
                    CCNB1IP1 (Varview), SNORD126 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1468873006 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      14:20327304 (GRCh38)
                      14:20795463 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:20327303:G:
                      Gene:
                      CCNB1IP1 (Varview), SNORD126 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      -=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1465071263 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        14:20326767 (GRCh38)
                        14:20794926 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:20326766:G:C
                        Gene:
                        CCNB1IP1 (Varview), SNORD126 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000011/3 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        12.

                        rs1463381767 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          14:20326628 (GRCh38)
                          14:20794787 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:20326627:C:T
                          Gene:
                          CCNB1IP1 (Varview), SNORD126 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1462347910 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            14:20326012 (GRCh38)
                            14:20794171 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:20326011:A:G
                            Gene:
                            CCNB1IP1 (Varview), SNORD126 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,intron_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1461402037 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CAAG>- [Show Flanks]
                              Chromosome:
                              14:20328499 (GRCh38)
                              14:20796658 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:20328495:AAGCAAG:AAG
                              Gene:
                              CCNB1IP1 (Varview), SNORD126 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAG=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000015/4 (TOPMED)
                              -=0.000156/1 (1000Genomes)
                              HGVS:
                              15.

                              rs1461320438 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                14:20327115 (GRCh38)
                                14:20795274 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:20327114:A:C
                                Gene:
                                CCNB1IP1 (Varview), SNORD126 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1461277923 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  14:20328070 (GRCh38)
                                  14:20796229 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:20328069:A:G
                                  Gene:
                                  CCNB1IP1 (Varview), SNORD126 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  G=0.000026/7 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1460874020 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    14:20328045 (GRCh38)
                                    14:20796204 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:20328044:G:C
                                    Gene:
                                    CCNB1IP1 (Varview), SNORD126 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000019/5 (TOPMED)
                                    C=0.000029/4 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1460858105 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      14:20328264 (GRCh38)
                                      14:20796423 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:20328263:T:C
                                      Gene:
                                      CCNB1IP1 (Varview), SNORD126 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000026/7 (TOPMED)
                                      C=0.000029/4 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1455690452 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AT>- [Show Flanks]
                                        Chromosome:
                                        14:20328106 (GRCh38)
                                        14:20796265 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:20328104:TAT:T
                                        Gene:
                                        CCNB1IP1 (Varview), SNORD126 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1455059781 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:20326603 (GRCh38)
                                          14:20794762 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:20326602:G:A
                                          Gene:
                                          CCNB1IP1 (Varview), SNORD126 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000023/6 (TOPMED)
                                          A=0.000029/4 (GnomAD)
                                          HGVS:

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