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Items: 1 to 20 of 1000

1.

rs1491574936 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    13:39026415 (GRCh38)
    13:39600552 (GRCh37)
    Canonical SPDI:
    NC_000013.11:39026414:GA:
    Gene:
    PROSER1 (Varview)
    Functional Consequence:
    intron_variant
    HGVS:
    2.

    rs1491572161 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      13:39019540 (GRCh38)
      13:39593678 (GRCh37)
      Canonical SPDI:
      NC_000013.11:39019540:GGG:GGGG
      Gene:
      PROSER1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency
      MAF:
      G=0.000015/2 (GnomAD)
      HGVS:
      3.

      rs1491571269 has merged into rs200677404 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        G>-,GG [Show Flanks]
        Chromosome:
        13:39024578 (GRCh38)
        13:39598715 (GRCh37)
        Canonical SPDI:
        NC_000013.11:39024577:GG:G,NC_000013.11:39024577:GG:GGG
        Gene:
        PROSER1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GG=0.0004/9 (ALFA)
        -=0.00302/165 (ExAC)
        -=0.00921/59 (1000Genomes)
        -=0.01226/153 (GoESP)
        HGVS:
        4.

        rs1491532556 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GA>- [Show Flanks]
          Chromosome:
          13:39018473 (GRCh38)
          13:39592610 (GRCh37)
          Canonical SPDI:
          NC_000013.11:39018472:GA:
          Gene:
          PROSER1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.01294/48 (TWINSUK)
          -=0.0192/74 (ALSPAC)
          HGVS:
          5.

          rs1491472023 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            GT>- [Show Flanks]
            Chromosome:
            13:39029246 (GRCh38)
            13:39603383 (GRCh37)
            Canonical SPDI:
            NC_000013.11:39029245:GT:
            Gene:
            PROSER1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.000022/2 (ExAC)
            -=0.000022/3 (GnomAD_exomes)
            -=0.020227/75 (TWINSUK)
            -=0.036066/139 (ALSPAC)
            HGVS:
            6.

            rs1491393684 has merged into rs397933451 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AG>- [Show Flanks]
              Chromosome:
              13:39024577 (GRCh38)
              13:39598714 (GRCh37)
              Canonical SPDI:
              NC_000013.11:39024576:AG:
              Gene:
              PROSER1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by cluster
              MAF:
              -=0.00009/5 (ExAC)
              -=0.01393/174 (GoESP)
              HGVS:
              7.

              rs1491363645 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AG>- [Show Flanks]
                Chromosome:
                13:39019540 (GRCh38)
                13:39593677 (GRCh37)
                Canonical SPDI:
                NC_000013.11:39019539:AG:
                Gene:
                PROSER1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:
                8.

                rs1491328609 has merged into rs1183602451 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  13:39019526 (GRCh38)
                  13:39593663 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:39019516:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  PROSER1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAA=0./0 (ALFA)
                  -=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000013.11:g.39019526_39019540del, NC_000013.11:g.39019527_39019540del, NC_000013.11:g.39019528_39019540del, NC_000013.11:g.39019529_39019540del, NC_000013.11:g.39019530_39019540del, NC_000013.11:g.39019531_39019540del, NC_000013.11:g.39019532_39019540del, NC_000013.11:g.39019533_39019540del, NC_000013.11:g.39019534_39019540del, NC_000013.11:g.39019535_39019540del, NC_000013.11:g.39019536_39019540del, NC_000013.11:g.39019537_39019540del, NC_000013.11:g.39019538_39019540del, NC_000013.11:g.39019539_39019540del, NC_000013.11:g.39019540del, NC_000013.11:g.39019540dup, NC_000013.11:g.39019539_39019540dup, NC_000013.11:g.39019538_39019540dup, NC_000013.11:g.39019537_39019540dup, NC_000013.11:g.39019535_39019540dup, NC_000013.11:g.39019533_39019540dup, NC_000013.11:g.39019531_39019540dup, NC_000013.10:g.39593663_39593677del, NC_000013.10:g.39593664_39593677del, NC_000013.10:g.39593665_39593677del, NC_000013.10:g.39593666_39593677del, NC_000013.10:g.39593667_39593677del, NC_000013.10:g.39593668_39593677del, NC_000013.10:g.39593669_39593677del, NC_000013.10:g.39593670_39593677del, NC_000013.10:g.39593671_39593677del, NC_000013.10:g.39593672_39593677del, NC_000013.10:g.39593673_39593677del, NC_000013.10:g.39593674_39593677del, NC_000013.10:g.39593675_39593677del, NC_000013.10:g.39593676_39593677del, NC_000013.10:g.39593677del, NC_000013.10:g.39593677dup, NC_000013.10:g.39593676_39593677dup, NC_000013.10:g.39593675_39593677dup, NC_000013.10:g.39593674_39593677dup, NC_000013.10:g.39593672_39593677dup, NC_000013.10:g.39593670_39593677dup, NC_000013.10:g.39593668_39593677dup
                  9.

                  rs1491285092 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    13:39019516 (GRCh38)
                    13:39593653 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:39019515:CA:
                    Gene:
                    PROSER1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.0016/19 (ALFA)
                    -=0.00062/16 (TOMMO)
                    HGVS:
                    10.

                    rs1491272679 has merged into rs35072988 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
                      Chromosome:
                      13:39027094 (GRCh38)
                      13:39601231 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:39027088:TGTGTGTGT:TGTGT,NC_000013.11:39027088:TGTGTGTGT:TGTGTGT,NC_000013.11:39027088:TGTGTGTGT:TGTGTGTGTGT,NC_000013.11:39027088:TGTGTGTGT:TGTGTGTGTGTGT,NC_000013.11:39027088:TGTGTGTGT:TGTGTGTGTGTGTGT
                      Gene:
                      PROSER1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TGTGTGT=0./0 (ALFA)
                      -=0.000015/4 (TOPMED)
                      TGTG=0.1/4 (GENOME_DK)
                      TGTG=0.110045/493 (Estonian)
                      TGTG=0.112224/112 (GoNL)
                      TGTG=0.13/78 (NorthernSweden)
                      TGTG=0.179772/3013 (TOMMO)
                      TGTG=0.191693/960 (1000Genomes)
                      TGTG=0.235849/50 (Vietnamese)
                      HGVS:
                      11.

                      rs1491231428 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->C [Show Flanks]
                        Chromosome:
                        13:39020092 (GRCh38)
                        13:39594230 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:39020092::C
                        Gene:
                        PROSER1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1491140456 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->G [Show Flanks]
                          Chromosome:
                          13:39029269 (GRCh38)
                          13:39603407 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:39029269:G:GG
                          Gene:
                          PROSER1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GG=0./0 (ALFA)
                          G=0.000015/2 (GnomAD)
                          HGVS:
                          13.

                          rs1491115826 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            A>-,AAAAAAAAA [Show Flanks]
                            Chromosome:
                            13:39026416 (GRCh38)
                            13:39600553 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:39026415:AAAAAAA:AAAAAA,NC_000013.11:39026415:AAAAAAA:AAAAAAAAAAAAAAA
                            Gene:
                            PROSER1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            AAAAAA=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1490867876 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              13:39035109 (GRCh38)
                              13:39609246 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:39035108:T:G
                              Gene:
                              PROSER1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1490703361 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                13:39034213 (GRCh38)
                                13:39608350 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:39034212:C:A
                                Gene:
                                PROSER1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.00001/2 (GnomAD_exomes)
                                HGVS:
                                16.

                                rs1490700047 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  13:39009584 (GRCh38)
                                  13:39583721 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:39009583:A:C,NC_000013.11:39009583:A:G
                                  Gene:
                                  PROSER1 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1490645802 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GTTAA>- [Show Flanks]
                                    Chromosome:
                                    13:39011787 (GRCh38)
                                    13:39585924 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:39011784:AAGTTAA:AA
                                    Gene:
                                    PROSER1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AA=0./0 (ALFA)
                                    -=0.000007/1 (GnomAD)
                                    -=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490536681 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      13:39012125 (GRCh38)
                                      13:39586262 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:39012124:T:C
                                      Gene:
                                      PROSER1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490527127 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->A [Show Flanks]
                                        Chromosome:
                                        13:39021840 (GRCh38)
                                        13:39595978 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:39021840:A:AA
                                        Gene:
                                        PROSER1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AA=0./0 (ALFA)
                                        A=0.000021/3 (GnomAD)
                                        A=0.000042/11 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490445185 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          13:39033618 (GRCh38)
                                          13:39607755 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:39033617:T:C
                                          Gene:
                                          PROSER1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:

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