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Items: 1 to 20 of 779

1.

rs1489317232 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    22:46112710 (GRCh38)
    22:46508590 (GRCh37)
    Canonical SPDI:
    NC_000022.11:46112709:C:T
    Gene:
    MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1486931666 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      22:46112590 (GRCh38)
      22:46508470 (GRCh37)
      Canonical SPDI:
      NC_000022.11:46112589:G:A,NC_000022.11:46112589:G:T
      Gene:
      MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      A=0.000021/3 (GnomAD)
      A=0.000035/1 (TOMMO)
      HGVS:
      3.

      rs1484781456 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        22:46112055 (GRCh38)
        22:46507936 (GRCh37)
        Canonical SPDI:
        NC_000022.11:46112055::C
        Gene:
        MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000061/1 (ALFA)
        C=0.000207/29 (GnomAD)
        C=0.000223/1 (Estonian)
        HGVS:
        4.

        rs1480838632 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          22:46111705 (GRCh38)
          22:46507585 (GRCh37)
          Canonical SPDI:
          NC_000022.11:46111704:G:A,NC_000022.11:46111704:G:T
          Gene:
          MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000015/2 (GnomAD)
          T=0.001092/2 (Korea1K)
          HGVS:
          5.

          rs1480815050 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            22:46112173 (GRCh38)
            22:46508053 (GRCh37)
            Canonical SPDI:
            NC_000022.11:46112172:G:T
            Gene:
            MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            T=0.000035/1 (TOMMO)
            T=0.000342/1 (KOREAN)
            T=0.000546/1 (Korea1K)
            HGVS:
            6.

            rs1478732627 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              22:46111274 (GRCh38)
              22:46507154 (GRCh37)
              Canonical SPDI:
              NC_000022.11:46111273:G:A
              Gene:
              MIRLET7BHG (Varview), MIRLET7A3 (Varview), LOC124905135 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000008/2 (TOPMED)
              A=0.000021/3 (GnomAD)
              HGVS:
              7.

              rs1477914588 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                22:46112510 (GRCh38)
                22:46508390 (GRCh37)
                Canonical SPDI:
                NC_000022.11:46112509:G:T
                Gene:
                MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1475467590 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  C>- [Show Flanks]
                  Chromosome:
                  22:46112462 (GRCh38)
                  22:46508342 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:46112461:C:
                  Gene:
                  MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.000071/1 (ALFA)
                  -=0.000004/1 (TOPMED)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1475246642 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->AA [Show Flanks]
                    Chromosome:
                    22:46111202 (GRCh38)
                    22:46507083 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:46111202::AA
                    Gene:
                    MIRLET7BHG (Varview), MIRLET7A3 (Varview), LOC124905135 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency
                    MAF:
                    AA=0.000014/2 (GnomAD)
                    HGVS:
                    10.

                    rs1472770422 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      22:46112893 (GRCh38)
                      22:46508773 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:46112892:GGGGG:GGGG
                      Gene:
                      MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      GGGG=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1472248518 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        22:46112971 (GRCh38)
                        22:46508851 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:46112970:G:A
                        Gene:
                        MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,3_prime_UTR_variant,downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1472112503 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          22:46112282 (GRCh38)
                          22:46508162 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:46112281:GGGG:GGG
                          Gene:
                          MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GGG=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1471807945 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            22:46112321 (GRCh38)
                            22:46508201 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:46112320:C:T
                            Gene:
                            MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,3_prime_UTR_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)
                            T=0.000156/1 (1000Genomes)
                            HGVS:
                            14.

                            rs1471791953 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              22:46112576 (GRCh38)
                              22:46508456 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:46112575:T:C
                              Gene:
                              MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1467804929 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                22:46111873 (GRCh38)
                                22:46507753 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:46111872:G:C
                                Gene:
                                MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1467620597 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  22:46111402 (GRCh38)
                                  22:46507282 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:46111401:G:A
                                  Gene:
                                  MIRLET7BHG (Varview), MIRLET7A3 (Varview), LOC124905135 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1466961441 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:46111054 (GRCh38)
                                    22:46506934 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:46111053:G:A
                                    Gene:
                                    MIRLET7BHG (Varview), MIRLET7A3 (Varview), LOC124905135 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000142/2 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1465972731 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      22:46113000 (GRCh38)
                                      22:46508880 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:46112999:GGG:GG
                                      Gene:
                                      MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GG=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1464604146 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        22:46112652 (GRCh38)
                                        22:46508532 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:46112651:A:G
                                        Gene:
                                        MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1463374439 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          22:46112942 (GRCh38)
                                          22:46508822 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:46112941:G:A,NC_000022.11:46112941:G:C
                                          Gene:
                                          MIRLET7BHG (Varview), MIRLET7A3 (Varview), MIRLET7B (Varview), MIR4763 (Varview), LOC124905135 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000198/3 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.00067/3 (Estonian)
                                          HGVS:

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