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Items: 1 to 20 of 1000

1.

rs1491560944 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    1:26997318 (GRCh38)
    1:27323809 (GRCh37)
    Canonical SPDI:
    NC_000001.11:26997316:AGA:A
    Gene:
    TRNP1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    2.

    rs1491455826 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      1:26997317 (GRCh38)
      1:27323809 (GRCh37)
      Canonical SPDI:
      NC_000001.11:26997317:G:GG
      Gene:
      TRNP1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GG=0./0 (ALFA)
      G=0.00004/1 (TOMMO)
      HGVS:
      3.

      rs1491385589 has merged into rs1415430706 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GGG>-,GG,GGGG [Show Flanks]
        Chromosome:
        1:26998233 (GRCh38)
        1:27324724 (GRCh37)
        Canonical SPDI:
        NC_000001.11:26998229:GGGGGG:GGG,NC_000001.11:26998229:GGGGGG:GGGGG,NC_000001.11:26998229:GGGGGG:GGGGGGG
        Gene:
        TRNP1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGGGG=0./0 (ALFA)
        -=0.00003/8 (TOPMED)
        -=0.000035/1 (TOMMO)
        HGVS:
        4.

        rs1491105269 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          1:26993691 (GRCh38)
          1:27320183 (GRCh37)
          Canonical SPDI:
          NC_000001.11:26993691:GGGG:GGGGG
          Gene:
          TRNP1 (Varview)
          Functional Consequence:
          5_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          GGGGG=0./0 (ALFA)
          G=0.000011/3 (TOPMED)
          HGVS:
          5.

          rs1489937444 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:26993663 (GRCh38)
            1:27320154 (GRCh37)
            Canonical SPDI:
            NC_000001.11:26993662:T:C
            Gene:
            TRNP1 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1489817991 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:27001139 (GRCh38)
              1:27327630 (GRCh37)
              Canonical SPDI:
              NC_000001.11:27001138:C:T
              Gene:
              TRNP1 (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              7.

              rs1489764454 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->A,CCCCCCCCCTT,CCCCCCCCCTTT,CCCCCCCCT,CCCCCCCCTTTT,CCCCCCTT [Show Flanks]
                Chromosome:
                1:26992645 (GRCh38)
                1:27319137 (GRCh37)
                Canonical SPDI:
                NC_000001.11:26992645::A,NC_000001.11:26992645::CCCCCCCCCTT,NC_000001.11:26992645::CCCCCCCCCTTT,NC_000001.11:26992645::CCCCCCCCT,NC_000001.11:26992645::CCCCCCCCTTTT,NC_000001.11:26992645::CCCCCCTT
                Gene:
                TRNP1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                HGVS:
                8.

                rs1489255045 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  1:26999644 (GRCh38)
                  1:27326135 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:26999643:T:A
                  Gene:
                  TRNP1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1489099691 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:27000572 (GRCh38)
                    1:27327063 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:27000571:T:C
                    Gene:
                    TRNP1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1488684231 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:26993891 (GRCh38)
                      1:27320382 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:26993890:C:T
                      Gene:
                      TRNP1 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488589303 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        A>-,AA [Show Flanks]
                        Chromosome:
                        1:26992109 (GRCh38)
                        1:27318600 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:26992108:AAA:AA,NC_000001.11:26992108:AAA:AAAA
                        Gene:
                        TRNP1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AA=0.00022/4 (ALFA)
                        -=0.00067/3 (Estonian)
                        HGVS:
                        12.

                        rs1488321214 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          1:26994617 (GRCh38)
                          1:27321108 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:26994616:G:C
                          Gene:
                          TRNP1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1488198236 has merged into rs1334916790 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AGTGTGACT>-,AGTGTGACTAGTGTGACT [Show Flanks]
                            Chromosome:
                            1:27000990 (GRCh38)
                            1:27327481 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:27000981:GTGTGACTAGTGTGACT:GTGTGACT,NC_000001.11:27000981:GTGTGACTAGTGTGACT:GTGTGACTAGTGTGACTAGTGTGACT
                            Gene:
                            TRNP1 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GTGTGACTAGTGTGACTAGTGTGACT=0./0 (ALFA)
                            -=0.000011/3 (TOPMED)
                            HGVS:
                            14.

                            rs1488023010 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              1:26995005 (GRCh38)
                              1:27321496 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:26995004:A:C
                              Gene:
                              TRNP1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1488016873 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                1:26993036 (GRCh38)
                                1:27319527 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:26993035:G:A,NC_000001.11:26993035:G:C
                                Gene:
                                TRNP1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1487786250 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CTGG>- [Show Flanks]
                                  Chromosome:
                                  1:26996355 (GRCh38)
                                  1:27322846 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:26996351:TGGCTGG:TGG
                                  Gene:
                                  TRNP1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TGG=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487297737 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:26996781 (GRCh38)
                                    1:27323272 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:26996780:G:A
                                    Gene:
                                    TRNP1 (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:
                                    18.

                                    rs1487042622 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      1:26995562 (GRCh38)
                                      1:27322053 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:26995561:G:T
                                      Gene:
                                      TRNP1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486923145 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        T>- [Show Flanks]
                                        Chromosome:
                                        1:26998901 (GRCh38)
                                        1:27325392 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:26998900:TTT:TT
                                        Gene:
                                        TRNP1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        TT=0./0 (ALFA)
                                        -=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486738857 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:26994123 (GRCh38)
                                          1:27320614 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:26994122:G:A
                                          Gene:
                                          TRNP1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000015/4 (TOPMED)
                                          HGVS:

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