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Items: 1 to 20 of 1000

1.

rs1490437176 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    2:241688887 (GRCh38)
    2:242628302 (GRCh37)
    Canonical SPDI:
    NC_000002.12:241688886:C:T
    Gene:
    ING5 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    HGVS:
    2.

    rs1490393733 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      2:241678968 (GRCh38)
      2:242618383 (GRCh37)
      Canonical SPDI:
      NC_000002.12:241678966:TAT:T
      Gene:
      DTYMK (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      -=0.000026/7 (TOPMED)
      -=0.000029/4 (GnomAD)
      HGVS:
      3.

      rs1490380748 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:241678063 (GRCh38)
        2:242617478 (GRCh37)
        Canonical SPDI:
        NC_000002.12:241678062:G:A
        Gene:
        DTYMK (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490101730 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:241678195 (GRCh38)
          2:242617610 (GRCh37)
          Canonical SPDI:
          NC_000002.12:241678194:A:G
          Gene:
          DTYMK (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1489833994 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            2:241684497 (GRCh38)
            2:242623912 (GRCh37)
            Canonical SPDI:
            NC_000002.12:241684496:C:A,NC_000002.12:241684496:C:T
            Gene:
            DTYMK (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1489607165 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:241685230 (GRCh38)
              2:242624645 (GRCh37)
              Canonical SPDI:
              NC_000002.12:241685229:T:C
              Gene:
              DTYMK (Varview), ING5 (Varview)
              Functional Consequence:
              upstream_transcript_variant,intron_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1489336802 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                2:241679526 (GRCh38)
                2:242618941 (GRCh37)
                Canonical SPDI:
                NC_000002.12:241679525:T:C
                Gene:
                DTYMK (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1489263643 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:241686753 (GRCh38)
                  2:242626168 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:241686752:G:A
                  Gene:
                  DTYMK (Varview), ING5 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1489130266 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    2:241682277 (GRCh38)
                    2:242621692 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:241682276:G:C
                    Gene:
                    DTYMK (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000008/1 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1489070025 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:241680668 (GRCh38)
                      2:242620083 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:241680667:A:G
                      Gene:
                      DTYMK (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1489028036 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        TG>- [Show Flanks]
                        Chromosome:
                        2:241679869 (GRCh38)
                        2:242619284 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:241679868:TG:
                        Gene:
                        DTYMK (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1488404573 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->A [Show Flanks]
                          Chromosome:
                          2:241679969 (GRCh38)
                          2:242619385 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:241679969::A
                          Gene:
                          DTYMK (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1488336507 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            2:241687539 (GRCh38)
                            2:242626954 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:241687538:T:G
                            Gene:
                            DTYMK (Varview), ING5 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            G=0.000008/1 (GnomAD)
                            HGVS:
                            14.

                            rs1488286951 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:241682728 (GRCh38)
                              2:242622143 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:241682727:C:T
                              Gene:
                              DTYMK (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1488258625 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GAG>- [Show Flanks]
                                Chromosome:
                                2:241684155 (GRCh38)
                                2:242623570 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:241684152:AGGAG:AG
                                Gene:
                                DTYMK (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AG=0./0 (ALFA)
                                -=0.000007/1 (GnomAD)
                                -=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1488053488 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  2:241679429 (GRCh38)
                                  2:242618844 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:241679428:G:T
                                  Gene:
                                  DTYMK (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1487990465 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:241682072 (GRCh38)
                                    2:242621487 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:241682071:C:T
                                    Gene:
                                    DTYMK (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487915108 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->A [Show Flanks]
                                      Chromosome:
                                      2:241685225 (GRCh38)
                                      2:242624641 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:241685225:A:AA
                                      Gene:
                                      DTYMK (Varview), ING5 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      AA=0.000071/1 (ALFA)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1487830560 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        2:241677057 (GRCh38)
                                        2:242616472 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:241677056:C:A
                                        Gene:
                                        DTYMK (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1487351304 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          2:241687163 (GRCh38)
                                          2:242626578 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:241687162:T:C
                                          Gene:
                                          DTYMK (Varview), ING5 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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