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Items: 1 to 20 of 1000

1.
3.

rs1490020350 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    1:156740367 (GRCh38)
    1:156710159 (GRCh37)
    Canonical SPDI:
    NC_000001.11:156740366:A:C
    Gene:
    MRPL24 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000071/1 (ALFA)
    C=0.000014/2 (GnomAD)
    C=0.000026/7 (TOPMED)
    HGVS:
    4.

    rs1489924958 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G [Show Flanks]
      Chromosome:
      1:156741211 (GRCh38)
      1:156711003 (GRCh37)
      Canonical SPDI:
      NC_000001.11:156741210:C:A,NC_000001.11:156741210:C:G
      Gene:
      MRPL24 (Varview)
      Functional Consequence:
      upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000023/6 (TOPMED)
      G=0.000029/4 (GnomAD)
      HGVS:
      5.

      rs1489860217 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        1:156741188 (GRCh38)
        1:156710980 (GRCh37)
        Canonical SPDI:
        NC_000001.11:156741187:A:C
        Gene:
        MRPL24 (Varview)
        Functional Consequence:
        upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        6.

        rs1489000231 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          1:156742223 (GRCh38)
          1:156712015 (GRCh37)
          Canonical SPDI:
          NC_000001.11:156742222:G:A,NC_000001.11:156742222:G:C
          Gene:
          HDGF (Varview), MRPL24 (Varview)
          Functional Consequence:
          upstream_transcript_variant,5_prime_UTR_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000001.11:g.156742223G>A, NC_000001.11:g.156742223G>C, NC_000001.10:g.156712015G>A, NC_000001.10:g.156712015G>C, XM_011509454.3:c.*1226C>T, XM_011509454.3:c.*1226C>G, XM_011509454.2:c.*1226C>T, XM_011509454.2:c.*1226C>G, XM_011509454.1:c.*1226C>T, XM_011509454.1:c.*1226C>G, XM_011509982.3:c.-1104C>T, XM_011509982.3:c.-1104C>G, NM_004494.3:c.*1226C>T, NM_004494.3:c.*1226C>G, NM_004494.2:c.*1226C>T, NM_004494.2:c.*1226C>G, XM_011509453.3:c.*1226C>T, XM_011509453.3:c.*1226C>G, XM_011509453.2:c.*1226C>T, XM_011509453.2:c.*1226C>G, XM_011509453.1:c.*1226C>T, XM_011509453.1:c.*1226C>G, XM_011509455.3:c.*1226C>T, XM_011509455.3:c.*1226C>G, XM_011509455.2:c.*1226C>T, XM_011509455.2:c.*1226C>G, XM_011509455.1:c.*1226C>T, XM_011509455.1:c.*1226C>G, NR_135008.2:n.2152C>T, NR_135008.2:n.2152C>G, NR_135008.1:n.2152C>T, NR_135008.1:n.2152C>G, NM_001319186.2:c.*1226C>T, NM_001319186.2:c.*1226C>G, NM_001319186.1:c.*1226C>T, NM_001319186.1:c.*1226C>G, NM_001126050.2:c.*1226C>T, NM_001126050.2:c.*1226C>G, NM_001126050.1:c.*1226C>T, NM_001126050.1:c.*1226C>G, NM_001319188.2:c.*1226C>T, NM_001319188.2:c.*1226C>G, NM_001319188.1:c.*1226C>T, NM_001319188.1:c.*1226C>G, NM_001319187.2:c.*1226C>T, NM_001319187.2:c.*1226C>G, NM_001319187.1:c.*1226C>T, NM_001319187.1:c.*1226C>G, XM_047418831.1:c.*1226C>T, XM_047418831.1:c.*1226C>G, XM_047418832.1:c.*1226C>T, XM_047418832.1:c.*1226C>G, XM_047418833.1:c.*1226C>T, XM_047418833.1:c.*1226C>G, NM_001126051.1:c.*1226C>T, NM_001126051.1:c.*1226C>G
          7.

          rs1488801640 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            1:156740736 (GRCh38)
            1:156710528 (GRCh37)
            Canonical SPDI:
            NC_000001.11:156740735:C:T
            Gene:
            MRPL24 (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:
            8.

            rs1488747136 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:156739749 (GRCh38)
              1:156709541 (GRCh37)
              Canonical SPDI:
              NC_000001.11:156739748:C:T
              Gene:
              MRPL24 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000011/3 (TOPMED)
              HGVS:
              10.

              rs1488246826 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                1:156739291 (GRCh38)
                1:156709083 (GRCh37)
                Canonical SPDI:
                NC_000001.11:156739290:C:A
                Gene:
                MRPL24 (Varview)
                Functional Consequence:
                intron_variant
                HGVS:
                12.

                rs1487992411 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:156741485 (GRCh38)
                  1:156711277 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:156741484:G:A
                  Gene:
                  MRPL24 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  13.

                  rs1487908993 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:156740214 (GRCh38)
                    1:156710006 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:156740213:T:C
                    Gene:
                    MRPL24 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    14.

                    rs1486551605 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      1:156737022 (GRCh38)
                      1:156706814 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:156737020:ACA:A
                      Gene:
                      METTL25B (Varview), MRPL24 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      -=0.000007/1 (GnomAD)
                      -=0.000019/5 (TOPMED)
                      HGVS:
                      15.

                      rs1486253605 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        1:156742653 (GRCh38)
                        1:156712445 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:156742652:G:A,NC_000001.11:156742652:G:T
                        Gene:
                        HDGF (Varview), MRPL24 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,5_prime_UTR_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        NC_000001.11:g.156742653G>A, NC_000001.11:g.156742653G>T, NC_000001.10:g.156712445G>A, NC_000001.10:g.156712445G>T, XM_011509454.3:c.*796C>T, XM_011509454.3:c.*796C>A, XM_011509454.2:c.*796C>T, XM_011509454.2:c.*796C>A, XM_011509454.1:c.*796C>T, XM_011509454.1:c.*796C>A, XM_011509982.3:c.-1534C>T, XM_011509982.3:c.-1534C>A, NM_004494.3:c.*796C>T, NM_004494.3:c.*796C>A, NM_004494.2:c.*796C>T, NM_004494.2:c.*796C>A, XM_011509453.3:c.*796C>T, XM_011509453.3:c.*796C>A, XM_011509453.2:c.*796C>T, XM_011509453.2:c.*796C>A, XM_011509453.1:c.*796C>T, XM_011509453.1:c.*796C>A, XM_011509455.3:c.*796C>T, XM_011509455.3:c.*796C>A, XM_011509455.2:c.*796C>T, XM_011509455.2:c.*796C>A, XM_011509455.1:c.*796C>T, XM_011509455.1:c.*796C>A, NR_135008.2:n.1722C>T, NR_135008.2:n.1722C>A, NR_135008.1:n.1722C>T, NR_135008.1:n.1722C>A, NM_001319186.2:c.*796C>T, NM_001319186.2:c.*796C>A, NM_001319186.1:c.*796C>T, NM_001319186.1:c.*796C>A, NM_001126050.2:c.*796C>T, NM_001126050.2:c.*796C>A, NM_001126050.1:c.*796C>T, NM_001126050.1:c.*796C>A, NM_001319188.2:c.*796C>T, NM_001319188.2:c.*796C>A, NM_001319188.1:c.*796C>T, NM_001319188.1:c.*796C>A, NM_001319187.2:c.*796C>T, NM_001319187.2:c.*796C>A, NM_001319187.1:c.*796C>T, NM_001319187.1:c.*796C>A, XM_047418831.1:c.*796C>T, XM_047418831.1:c.*796C>A, XM_047418832.1:c.*796C>T, XM_047418832.1:c.*796C>A, XM_047418833.1:c.*796C>T, XM_047418833.1:c.*796C>A, NM_001126051.1:c.*796C>T, NM_001126051.1:c.*796C>A
                        16.
                        17.

                        rs1484378764 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          1:156738103 (GRCh38)
                          1:156707895 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:156738102:T:A
                          Gene:
                          MRPL24 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          18.

                          rs1484328118 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:156739373 (GRCh38)
                            1:156709165 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:156739372:G:A
                            Gene:
                            MRPL24 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            19.

                            rs1484150833 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:156740474 (GRCh38)
                              1:156710266 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:156740473:G:A
                              Gene:
                              MRPL24 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000214/3 (ALFA)
                              A=0.000049/13 (TOPMED)
                              A=0.00005/7 (GnomAD)
                              HGVS:

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