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Items: 1 to 20 of 200

1.

rs1481776042 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    6:35470583 (GRCh38)
    6:35438360 (GRCh37)
    Canonical SPDI:
    NC_000006.12:35470582:T:G
    Gene:
    RPL10A (Varview), MIR7111 (Varview)
    Functional Consequence:
    coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1478015879 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      6:35469409 (GRCh38)
      6:35437186 (GRCh37)
      Canonical SPDI:
      NC_000006.12:35469408:T:C
      Gene:
      RPL10A (Varview), MIR7111 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1467619736 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        6:35469519 (GRCh38)
        6:35437296 (GRCh37)
        Canonical SPDI:
        NC_000006.12:35469518:C:T
        Gene:
        RPL10A (Varview), MIR7111 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000008/2 (GnomAD_exomes)
        HGVS:
        4.

        rs1467517938 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          6:35470212 (GRCh38)
          6:35437989 (GRCh37)
          Canonical SPDI:
          NC_000006.12:35470211:C:G
          Gene:
          RPL10A (Varview), MIR7111 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1464606304 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            6:35470589 (GRCh38)
            6:35438366 (GRCh37)
            Canonical SPDI:
            NC_000006.12:35470588:C:T
            Gene:
            RPL10A (Varview), MIR7111 (Varview)
            Functional Consequence:
            500B_downstream_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            T=0.000015/4 (TOPMED)
            HGVS:
            6.

            rs1458718419 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              6:35469477 (GRCh38)
              6:35437254 (GRCh37)
              Canonical SPDI:
              NC_000006.12:35469476:C:T
              Gene:
              RPL10A (Varview), MIR7111 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by cluster
              MAF:
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1449819724 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:35468830 (GRCh38)
                6:35436607 (GRCh37)
                Canonical SPDI:
                NC_000006.12:35468829:G:A
                Gene:
                RPL10A (Varview), MIR7111 (Varview)
                Functional Consequence:
                upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
                HGVS:
                8.

                rs1442498537 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  6:35469394 (GRCh38)
                  6:35437171 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:35469393:CCCC:CCC
                  Gene:
                  RPL10A (Varview), MIR7111 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  CCC=0.000111/1 (ALFA)
                  -=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  9.

                  rs1437307044 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    6:35468837 (GRCh38)
                    6:35436614 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:35468836:G:C
                    Gene:
                    RPL10A (Varview), MIR7111 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1430263677 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      6:35470319 (GRCh38)
                      6:35438096 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:35470318:G:T
                      Gene:
                      RPL10A (Varview), MIR7111 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000111/1 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      11.

                      rs1429980035 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        6:35468951 (GRCh38)
                        6:35436728 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:35468950:C:T
                        Gene:
                        RPL10A (Varview), MIR7111 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1428758317 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          6:35470586 (GRCh38)
                          6:35438363 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:35470585:T:G
                          Gene:
                          RPL10A (Varview), MIR7111 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000224/1 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000223/1 (Estonian)
                          HGVS:
                          13.

                          rs1428125787 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:35468851 (GRCh38)
                            6:35436628 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:35468850:G:A
                            Gene:
                            RPL10A (Varview), MIR7111 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
                            HGVS:
                            14.

                            rs1423418843 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              6:35470204 (GRCh38)
                              6:35437981 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:35470203:C:T
                              Gene:
                              RPL10A (Varview), MIR7111 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1415815395 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:35470203 (GRCh38)
                                6:35437980 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:35470202:C:T
                                Gene:
                                RPL10A (Varview), MIR7111 (Varview)
                                Functional Consequence:
                                missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                                HGVS:
                                16.

                                rs1413516711 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  6:35470617 (GRCh38)
                                  6:35438394 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:35470616:T:A
                                  Gene:
                                  RPL10A (Varview), MIR7111 (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1409686613 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:35469023 (GRCh38)
                                    6:35436800 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:35469022:G:A
                                    Gene:
                                    RPL10A (Varview), MIR7111 (Varview)
                                    Functional Consequence:
                                    missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1408883666 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->CCCTA [Show Flanks]
                                      Chromosome:
                                      6:35469398 (GRCh38)
                                      6:35437176 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:35469398:CCCTA:CCCTACCCTA
                                      Gene:
                                      RPL10A (Varview), MIR7111 (Varview)
                                      Functional Consequence:
                                      frameshift_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      CCCTACCCTA=0./0 (ALFA)
                                      CCCTA=0.000004/1 (TOPMED)
                                      CCCTA=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1406904826 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        6:35468993 (GRCh38)
                                        6:35436770 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:35468992:C:T
                                        Gene:
                                        RPL10A (Varview), MIR7111 (Varview)
                                        Functional Consequence:
                                        missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                                        Validated:
                                        by cluster
                                        HGVS:
                                        20.

                                        rs1406284687 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          6:35468995 (GRCh38)
                                          6:35436772 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:35468994:C:T
                                          Gene:
                                          RPL10A (Varview), MIR7111 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
                                          HGVS:

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