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Items: 1 to 20 of 3407

1.

rs1491325583 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TT>- [Show Flanks]
    Chromosome:
    4:80186457 (GRCh38)
    4:81107611 (GRCh37)
    Canonical SPDI:
    NC_000004.12:80186456:TT:
    Gene:
    PRDM8 (Varview), PRDM8-AS1 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.003001/49 (ALFA)
    -=0.000625/4 (1000Genomes)
    -=0.000885/15 (TOMMO)
    -=0.002735/373 (GnomAD)
    HGVS:
    2.

    rs1491121894 has merged into rs1234830907 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GGG>-,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
      Chromosome:
      4:80187246 (GRCh38)
      4:81108400 (GRCh37)
      Canonical SPDI:
      NC_000004.12:80187244:GGGG:G,NC_000004.12:80187244:GGGG:GGG,NC_000004.12:80187244:GGGG:GGGGG,NC_000004.12:80187244:GGGG:GGGGGG,NC_000004.12:80187244:GGGG:GGGGGGG,NC_000004.12:80187244:GGGG:GGGGGGGG,NC_000004.12:80187244:GGGG:GGGGGGGGG
      Gene:
      PRDM8 (Varview), PRDM8-AS1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      -=0.00096/12 (TOMMO)
      HGVS:
      3.

      rs1491114506 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->ATCTCTCTCTCTCTCTCTCTC [Show Flanks]
        Chromosome:
        4:80186457 (GRCh38)
        4:81107612 (GRCh37)
        Canonical SPDI:
        NC_000004.12:80186457::ATCTCTCTCTCTCTCTCTCTC
        Gene:
        PRDM8 (Varview), PRDM8-AS1 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        HGVS:
        4.

        rs1491022744 has merged into rs1553904276 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GAGAGAGAGAGAGAGA>-,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
          Chromosome:
          4:80195944 (GRCh38)
          4:81117098 (GRCh37)
          Canonical SPDI:
          NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000004.12:80195928:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
          Gene:
          PRDM8 (Varview)
          Functional Consequence:
          intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
          HGVS:
          NC_000004.12:g.80195930GA[7], NC_000004.12:g.80195930GA[9], NC_000004.12:g.80195930GA[10], NC_000004.12:g.80195930GA[11], NC_000004.12:g.80195930GA[12], NC_000004.12:g.80195930GA[13], NC_000004.12:g.80195930GA[14], NC_000004.12:g.80195930GA[16], NC_000004.12:g.80195930GA[17], NC_000004.12:g.80195930GA[18], NC_000004.12:g.80195930GA[19], NC_000004.12:g.80195930GA[20], NC_000004.12:g.80195930GA[21], NC_000004.12:g.80195930GA[22], NC_000004.12:g.80195930GA[23], NC_000004.12:g.80195930GA[24], NC_000004.12:g.80195930GA[25], NC_000004.12:g.80195930GA[26], NC_000004.12:g.80195930GA[27], NC_000004.12:g.80195930GA[28], NC_000004.11:g.81117084GA[7], NC_000004.11:g.81117084GA[9], NC_000004.11:g.81117084GA[10], NC_000004.11:g.81117084GA[11], NC_000004.11:g.81117084GA[12], NC_000004.11:g.81117084GA[13], NC_000004.11:g.81117084GA[14], NC_000004.11:g.81117084GA[16], NC_000004.11:g.81117084GA[17], NC_000004.11:g.81117084GA[18], NC_000004.11:g.81117084GA[19], NC_000004.11:g.81117084GA[20], NC_000004.11:g.81117084GA[21], NC_000004.11:g.81117084GA[22], NC_000004.11:g.81117084GA[23], NC_000004.11:g.81117084GA[24], NC_000004.11:g.81117084GA[25], NC_000004.11:g.81117084GA[26], NC_000004.11:g.81117084GA[27], NC_000004.11:g.81117084GA[28], NG_046725.1:g.15661GA[7], NG_046725.1:g.15661GA[9], NG_046725.1:g.15661GA[10], NG_046725.1:g.15661GA[11], NG_046725.1:g.15661GA[12], NG_046725.1:g.15661GA[13], NG_046725.1:g.15661GA[14], NG_046725.1:g.15661GA[16], NG_046725.1:g.15661GA[17], NG_046725.1:g.15661GA[18], NG_046725.1:g.15661GA[19], NG_046725.1:g.15661GA[20], NG_046725.1:g.15661GA[21], NG_046725.1:g.15661GA[22], NG_046725.1:g.15661GA[23], NG_046725.1:g.15661GA[24], NG_046725.1:g.15661GA[25], NG_046725.1:g.15661GA[26], NG_046725.1:g.15661GA[27], NG_046725.1:g.15661GA[28]
          5.

          rs1490905377 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            4:80194418 (GRCh38)
            4:81115572 (GRCh37)
            Canonical SPDI:
            NC_000004.12:80194417:T:C
            Gene:
            PRDM8 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1490636965 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              C>- [Show Flanks]
              Chromosome:
              4:80187249 (GRCh38)
              4:81108403 (GRCh37)
              Canonical SPDI:
              NC_000004.12:80187248:C:
              Gene:
              PRDM8 (Varview), PRDM8-AS1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.00009/8 (GnomAD)
              HGVS:
              7.

              rs1489926502 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                4:80193450 (GRCh38)
                4:81114604 (GRCh37)
                Canonical SPDI:
                NC_000004.12:80193449:C:A,NC_000004.12:80193449:C:T
                Gene:
                PRDM8 (Varview), PRDM8-AS1 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1489819091 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G,T [Show Flanks]
                  Chromosome:
                  4:80192364 (GRCh38)
                  4:81113518 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:80192363:C:G,NC_000004.12:80192363:C:T
                  Gene:
                  PRDM8 (Varview), PRDM8-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1489295486 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    4:80185985 (GRCh38)
                    4:81107139 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:80185984:A:G
                    Gene:
                    PRDM8 (Varview), PRDM8-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1489025355 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      4:80192495 (GRCh38)
                      4:81113649 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:80192494:C:T
                      Gene:
                      PRDM8 (Varview), PRDM8-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1488960520 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        4:80185857 (GRCh38)
                        4:81107011 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:80185856:C:A
                        Gene:
                        PRDM8 (Varview), PRDM8-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1488694775 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          4:80184821 (GRCh38)
                          4:81105975 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:80184820:T:C
                          Gene:
                          PRDM8 (Varview), PRDM8-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1488437679 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            4:80184483 (GRCh38)
                            4:81105637 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:80184482:T:C
                            Gene:
                            PRDM8 (Varview), PRDM8-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1488133839 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              4:80194335 (GRCh38)
                              4:81115489 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:80194334:G:A,NC_000004.12:80194334:G:T
                              Gene:
                              PRDM8 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1487895584 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:80192750 (GRCh38)
                                4:81113904 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:80192749:A:G
                                Gene:
                                PRDM8 (Varview), PRDM8-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1487607732 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  4:80194536 (GRCh38)
                                  4:81115690 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:80194535:C:T
                                  Gene:
                                  PRDM8 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000023/6 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1487454326 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CG>- [Show Flanks]
                                    Chromosome:
                                    4:80184168 (GRCh38)
                                    4:81105322 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:80184164:GCGCG:GCG
                                    Gene:
                                    PRDM8 (Varview), PRDM8-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GCG=0./0 (ALFA)
                                    -=0.000007/1 (GnomAD)
                                    -=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487382092 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      4:80193515 (GRCh38)
                                      4:81114669 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:80193514:T:C
                                      Gene:
                                      PRDM8 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      C=0.000036/5 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1487321487 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:80185049 (GRCh38)
                                        4:81106203 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:80185048:C:T
                                        Gene:
                                        PRDM8 (Varview), PRDM8-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0./0 (GnomAD)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1487101036 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          4:80186671 (GRCh38)
                                          4:81107825 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:80186670:A:G
                                          Gene:
                                          PRDM8 (Varview), PRDM8-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000011/3 (TOPMED)
                                          HGVS:

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