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Items: 1 to 20 of 3170

1.

rs1491071796 has merged into rs539317022 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    9:94324668 (GRCh38)
    9:97086950 (GRCh37)
    Canonical SPDI:
    NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:94324662:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
    Gene:
    NUTM2F (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAA=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.05021/251 (1000Genomes)
    HGVS:
    2.

    rs1490870365 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      9:94322065 (GRCh38)
      9:97084347 (GRCh37)
      Canonical SPDI:
      NC_000009.12:94322064:G:A
      Gene:
      NUTM2F (Varview), LOC105376154 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1490760820 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAGAAAA>- [Show Flanks]
        Chromosome:
        9:94324674 (GRCh38)
        9:97086956 (GRCh37)
        Canonical SPDI:
        NC_000009.12:94324669:AAAAAAAAAGAAAA:AAAA
        Gene:
        NUTM2F (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        AAAA=0.00008/1 (ALFA)
        HGVS:
        4.

        rs1490633666 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,T [Show Flanks]
          Chromosome:
          9:94322484 (GRCh38)
          9:97084766 (GRCh37)
          Canonical SPDI:
          NC_000009.12:94322483:A:C,NC_000009.12:94322483:A:T
          Gene:
          NUTM2F (Varview), LOC105376154 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000142/2 (ALFA)
          T=0.00003/8 (TOPMED)
          T=0.000043/6 (GnomAD)
          C=0.001092/2 (Korea1K)
          HGVS:
          5.

          rs1490598993 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            9:94324193 (GRCh38)
            9:97086475 (GRCh37)
            Canonical SPDI:
            NC_000009.12:94324192:C:T
            Gene:
            NUTM2F (Varview), LOC105376154 (Varview)
            Functional Consequence:
            500B_downstream_variant,downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.00003/8 (TOPMED)
            T=0.00005/7 (GnomAD)
            HGVS:
            6.

            rs1490404959 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              9:94329351 (GRCh38)
              9:97091633 (GRCh37)
              Canonical SPDI:
              NC_000009.12:94329350:A:G
              Gene:
              NUTM2F (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              G=0.000008/2 (TOPMED)
              G=0.000142/2 (TOMMO)
              HGVS:
              7.

              rs1490325597 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                9:94326870 (GRCh38)
                9:97089152 (GRCh37)
                Canonical SPDI:
                NC_000009.12:94326869:C:T
                Gene:
                NUTM2F (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490253276 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  9:94327690 (GRCh38)
                  9:97089972 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:94327689:T:G
                  Gene:
                  NUTM2F (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.00001/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490054034 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    9:94321715 (GRCh38)
                    9:97083997 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:94321714:G:A
                    Gene:
                    NUTM2F (Varview), LOC105376154 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000015/2 (GnomAD)
                    HGVS:
                    10.

                    rs1490039138 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      9:94322451 (GRCh38)
                      9:97084733 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:94322450:T:C
                      Gene:
                      NUTM2F (Varview), LOC105376154 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1489868949 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:94321305 (GRCh38)
                        9:97083587 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:94321304:A:G
                        Gene:
                        NUTM2F (Varview), LOC105376154 (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.

                        rs1489770022 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          9:94323546 (GRCh38)
                          9:97085828 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:94323545:C:A,NC_000009.12:94323545:C:G,NC_000009.12:94323545:C:T
                          Gene:
                          NUTM2F (Varview), LOC105376154 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1489351634 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            9:94318765 (GRCh38)
                            9:97081047 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:94318764:G:C
                            Gene:
                            NUTM2F (Varview), LOC105376154 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000006/1 (GnomAD_exomes)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1489031281 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              9:94325819 (GRCh38)
                              9:97088101 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:94325818:C:A,NC_000009.12:94325818:C:G
                              Gene:
                              NUTM2F (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              HGVS:
                              15.

                              rs1489024115 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:94323326 (GRCh38)
                                9:97085608 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:94323325:C:T
                                Gene:
                                NUTM2F (Varview), LOC105376154 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1488956391 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  9:94319076 (GRCh38)
                                  9:97081358 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:94319075:T:G
                                  Gene:
                                  NUTM2F (Varview), LOC105376154 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,missense_variant
                                  HGVS:
                                  17.

                                  rs1488847630 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    9:94327838 (GRCh38)
                                    9:97090120 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:94327837:A:C
                                    Gene:
                                    NUTM2F (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000071/1 (ALFA)
                                    C=0.000019/5 (TOPMED)
                                    C=0.000022/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1488644347 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      9:94323731 (GRCh38)
                                      9:97086013 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:94323730:C:G
                                      Gene:
                                      NUTM2F (Varview), LOC105376154 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488024642 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:94327566 (GRCh38)
                                        9:97089848 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:94327565:C:T
                                        Gene:
                                        NUTM2F (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1487761265 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          9:94329218 (GRCh38)
                                          9:97091500 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:94329217:T:G
                                          Gene:
                                          NUTM2F (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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