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Items: 1 to 20 of 1000

1.

rs1490931613 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    6:135206834 (GRCh38)
    6:135527972 (GRCh37)
    Canonical SPDI:
    NC_000006.12:135206833:A:C
    Gene:
    MYB (Varview), LOC105378011 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1490683180 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:135191901 (GRCh38)
      6:135513039 (GRCh37)
      Canonical SPDI:
      NC_000006.12:135191900:C:T
      Gene:
      MYB (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1490671095 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:135198957 (GRCh38)
        6:135520095 (GRCh37)
        Canonical SPDI:
        NC_000006.12:135198956:C:T
        Gene:
        MYB (Varview), LOC105378011 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000011/3 (TOPMED)
        HGVS:
        NC_000006.12:g.135198957C>T, NC_000006.11:g.135520095C>T, NG_012330.1:g.22643C>T, NM_005375.4:c.1253C>T, NM_005375.3:c.1253C>T, NM_005375.2:c.1253C>T, NM_001130173.2:c.1616C>T, NM_001130173.1:c.1616C>T, NM_001161656.2:c.1607C>T, NM_001161656.1:c.1607C>T, NM_001161658.2:c.1568C>T, NM_001161658.1:c.1568C>T, NR_134961.2:n.1642C>T, NR_134961.1:n.1635C>T, NR_134965.2:n.1581C>T, NR_134965.1:n.1574C>T, NR_134963.2:n.1459C>T, NR_134963.1:n.1452C>T, NR_134958.2:n.1581C>T, NR_134958.1:n.1574C>T, NR_134959.2:n.1572C>T, NR_134959.1:n.1565C>T, NR_134960.2:n.1459C>T, NR_134960.1:n.1452C>T, NR_134964.2:n.1450C>T, NR_134964.1:n.1443C>T, NM_001130172.2:c.1244C>T, NM_001130172.1:c.1244C>T, NR_134962.2:n.1360C>T, NR_134962.1:n.1353C>T, NM_001161660.2:c.1148C>T, NM_001161660.1:c.1148C>T, NM_001161659.2:c.1253C>T, NM_001161659.1:c.1253C>T, NM_001161657.2:c.998C>T, NM_001161657.1:c.998C>T, XR_942444.3:n.1822C>T, XR_942444.2:n.1774C>T, XR_942444.1:n.2149C>T, XM_047418834.1:c.1556C>T, NP_005366.2:p.Ser418Phe, NP_001123645.1:p.Ser539Phe, NP_001155128.1:p.Ser536Phe, NP_001155130.1:p.Ser523Phe, NP_001123644.1:p.Ser415Phe, NP_001155132.1:p.Ser383Phe, NP_001155131.1:p.Ser418Phe, NP_001155129.1:p.Ser333Phe, XP_047274790.1:p.Ser519Phe
        4.

        rs1490627306 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          6:135215650 (GRCh38)
          6:135536788 (GRCh37)
          Canonical SPDI:
          NC_000006.12:135215649:C:A
          Gene:
          MYB (Varview), LOC105378011 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1490593574 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            6:135179191 (GRCh38)
            6:135500329 (GRCh37)
            Canonical SPDI:
            NC_000006.12:135179190:T:C
            HGVS:
            6.

            rs1490576468 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TT>- [Show Flanks]
              Chromosome:
              6:135216693 (GRCh38)
              6:135537831 (GRCh37)
              Canonical SPDI:
              NC_000006.12:135216691:TTT:T
              Gene:
              MYB (Varview), LOC105378011 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              -=0.000011/3 (TOPMED)
              HGVS:
              7.

              rs1490565148 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                6:135184809 (GRCh38)
                6:135505947 (GRCh37)
                Canonical SPDI:
                NC_000006.12:135184808:A:G
                Gene:
                MYB (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1490489161 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  6:135207942 (GRCh38)
                  6:135529080 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:135207941:G:T
                  Gene:
                  MYB (Varview), LOC105378011 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490111896 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    6:135209830 (GRCh38)
                    6:135530968 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:135209829:A:G
                    Gene:
                    MYB (Varview), LOC105378011 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_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:
                    10.

                    rs1490049758 has merged into rs3071602 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      6:135183019 (GRCh38)
                      6:135504157 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:135183006:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      MYB (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTT=0./0 (ALFA)
                      HGVS:
                      NC_000006.12:g.135183019_135183028del, NC_000006.12:g.135183020_135183028del, NC_000006.12:g.135183021_135183028del, NC_000006.12:g.135183022_135183028del, NC_000006.12:g.135183023_135183028del, NC_000006.12:g.135183024_135183028del, NC_000006.12:g.135183025_135183028del, NC_000006.12:g.135183026_135183028del, NC_000006.12:g.135183027_135183028del, NC_000006.12:g.135183028del, NC_000006.12:g.135183028dup, NC_000006.12:g.135183027_135183028dup, NC_000006.12:g.135183026_135183028dup, NC_000006.12:g.135183025_135183028dup, NC_000006.11:g.135504157_135504166del, NC_000006.11:g.135504158_135504166del, NC_000006.11:g.135504159_135504166del, NC_000006.11:g.135504160_135504166del, NC_000006.11:g.135504161_135504166del, NC_000006.11:g.135504162_135504166del, NC_000006.11:g.135504163_135504166del, NC_000006.11:g.135504164_135504166del, NC_000006.11:g.135504165_135504166del, NC_000006.11:g.135504166del, NC_000006.11:g.135504166dup, NC_000006.11:g.135504165_135504166dup, NC_000006.11:g.135504164_135504166dup, NC_000006.11:g.135504163_135504166dup, NG_012330.1:g.6705_6714del, NG_012330.1:g.6706_6714del, NG_012330.1:g.6707_6714del, NG_012330.1:g.6708_6714del, NG_012330.1:g.6709_6714del, NG_012330.1:g.6710_6714del, NG_012330.1:g.6711_6714del, NG_012330.1:g.6712_6714del, NG_012330.1:g.6713_6714del, NG_012330.1:g.6714del, NG_012330.1:g.6714dup, NG_012330.1:g.6713_6714dup, NG_012330.1:g.6712_6714dup, NG_012330.1:g.6711_6714dup
                      11.

                      rs1489926202 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        6:135191315 (GRCh38)
                        6:135512453 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:135191314:A:G
                        Gene:
                        MYB (Varview)
                        Functional Consequence:
                        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:
                        12.

                        rs1489783184 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          6:135200815 (GRCh38)
                          6:135521953 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:135200814:A:C,NC_000006.12:135200814:A:G
                          Gene:
                          MYB (Varview), LOC105378011 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1489778337 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:135209436 (GRCh38)
                            6:135530574 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:135209435:G:A
                            Gene:
                            MYB (Varview), LOC105378011 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000015/4 (TOPMED)
                            HGVS:
                            14.

                            rs1489702781 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              6:135183662 (GRCh38)
                              6:135504800 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:135183661:C:A
                              Gene:
                              MYB (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000029/4 (GnomAD)
                              A=0.000035/1 (TOMMO)
                              HGVS:
                              15.

                              rs1489564032 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                6:135181032 (GRCh38)
                                6:135502170 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:135181031:A:T
                                Gene:
                                MYB (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1489491079 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  6:135180715 (GRCh38)
                                  6:135501853 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:135180714:T:C
                                  Gene:
                                  MYB (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1489471826 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    6:135211756 (GRCh38)
                                    6:135532894 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:135211755:G:A,NC_000006.12:135211755:G:C
                                    Gene:
                                    MYB (Varview), LOC105378011 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    A=0.000021/3 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1489443834 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:135188353 (GRCh38)
                                      6:135509491 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:135188352:G:A
                                      Gene:
                                      MYB (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000026/7 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1489406493 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ACTG>- [Show Flanks]
                                        Chromosome:
                                        6:135218935 (GRCh38)
                                        6:135540073 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:135218931:CTGACTG:CTG
                                        Gene:
                                        MYB (Varview), LOC105378011 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CTG=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000006.12:g.135218935_135218938del, NC_000006.11:g.135540073_135540076del, NG_012330.1:g.42621_42624del, NM_005375.4:c.*955_*958del, NM_005375.3:c.*955_*958del, NM_005375.2:c.*955_*958del, NM_001130173.2:c.*955_*958del, NM_001130173.1:c.*955_*958del, NM_001161656.2:c.*955_*958del, NM_001161656.1:c.*955_*958del, NM_001161658.2:c.*955_*958del, NM_001161658.1:c.*955_*958del, NR_134961.2:n.3267_3270del, NR_134961.1:n.3260_3263del, NR_134965.2:n.3262_3265del, NR_134965.1:n.3255_3258del, NR_134963.2:n.3226_3229del, NR_134963.1:n.3219_3222del, NR_134958.2:n.3206_3209del, NR_134958.1:n.3199_3202del, NR_134959.2:n.3197_3200del, NR_134959.1:n.3190_3193del, NR_134960.2:n.3140_3143del, NR_134960.1:n.3133_3136del, NR_134964.2:n.3131_3134del, NR_134964.1:n.3124_3127del, NM_001130172.2:c.*955_*958del, NM_001130172.1:c.*955_*958del, NR_134962.2:n.2985_2988del, NR_134962.1:n.2978_2981del, NM_001161660.2:c.*955_*958del, NM_001161660.1:c.*955_*958del, NM_001161659.2:c.*955_*958del, NM_001161659.1:c.*955_*958del, NM_001161657.2:c.*955_*958del, NM_001161657.1:c.*955_*958del, XM_047418834.1:c.*955_*958del

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