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Items: 1 to 20 of 40293

1.

rs1491576674 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    1:74072490 (GRCh38)
    1:74538174 (GRCh37)
    Canonical SPDI:
    NC_000001.11:74072489:CA:
    Gene:
    LRRIQ3 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000045/12 (TOPMED)
    -=0.000086/12 (GnomAD)
    HGVS:
    2.

    rs1491565341 has merged into rs79538213 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GT>- [Show Flanks]
      Chromosome:
      1:74174566 (GRCh38)
      1:74640250 (GRCh37)
      Canonical SPDI:
      NC_000001.11:74174564:TGT:T
      Gene:
      LRRIQ3 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000675/11 (ALFA)
      -=0.000146/18 (GnomAD)
      HGVS:
      3.

      rs1491543531 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        1:74085323 (GRCh38)
        1:74551007 (GRCh37)
        Canonical SPDI:
        NC_000001.11:74085322:CA:
        Gene:
        LRRIQ3 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491513793 has merged into rs1387333088 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GTGT>-,GT,GTGTGT [Show Flanks]
          Chromosome:
          1:74139092 (GRCh38)
          1:74604776 (GRCh37)
          Canonical SPDI:
          NC_000001.11:74139084:TGTGTGTGTGT:TGTGTGT,NC_000001.11:74139084:TGTGTGTGTGT:TGTGTGTGT,NC_000001.11:74139084:TGTGTGTGTGT:TGTGTGTGTGTGT
          Gene:
          LRRIQ3 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TGTGTGTGT=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          TG=0.000106/2 (TOMMO)
          -=0.000546/1 (Korea1K)
          HGVS:
          5.

          rs1491469364 has merged into rs71588822 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
            Chromosome:
            1:74138172 (GRCh38)
            1:74603856 (GRCh37)
            Canonical SPDI:
            NC_000001.11:74138163:AAAAAAAAAAAA:AAAAAAAA,NC_000001.11:74138163:AAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:74138163:AAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:74138163:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:74138163:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:74138163:AAAAAAAAAAAA:AAAAAAAAAAAAAA
            Gene:
            LRRIQ3 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAA=0./0 (ALFA)
            HGVS:
            6.

            rs1491457185 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              1:74116040 (GRCh38)
              1:74581724 (GRCh37)
              Canonical SPDI:
              NC_000001.11:74116038:TCT:T
              Gene:
              LRRIQ3 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              -=0.000057/8 (GnomAD)
              -=0.000098/26 (TOPMED)
              HGVS:
              7.

              rs1491447553 has merged into rs796862229 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CAAAACAAAA>-,CAAAA,CAAAACAAAACAAAA [Show Flanks]
                Chromosome:
                1:74063099 (GRCh38)
                1:74528783 (GRCh37)
                Canonical SPDI:
                NC_000001.11:74063083:CAAAACAAAACAAAACAAAACAAAA:CAAAACAAAACAAAA,NC_000001.11:74063083:CAAAACAAAACAAAACAAAACAAAA:CAAAACAAAACAAAACAAAA,NC_000001.11:74063083:CAAAACAAAACAAAACAAAACAAAA:CAAAACAAAACAAAACAAAACAAAACAAAA
                Gene:
                LRRIQ3 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CAAAACAAAACAAAACAAAA=0./0 (ALFA)
                CAAAA=0.00007/2 (TOMMO)
                -=0.00109/7 (1000Genomes)
                HGVS:
                8.

                rs1491436833 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->GG [Show Flanks]
                  Chromosome:
                  1:74139085 (GRCh38)
                  1:74604770 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:74139085:G:GGG
                  Gene:
                  LRRIQ3 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  GGG=0.000184/3 (ALFA)
                  GG=0.000101/13 (GnomAD)
                  HGVS:
                  9.

                  rs1491378413 has merged into rs753297722 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AA>-,A,AAA,AAAA [Show Flanks]
                    Chromosome:
                    1:74073624 (GRCh38)
                    1:74539308 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:74073610:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:74073610:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:74073610:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:74073610:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
                    Gene:
                    LRRIQ3 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAAAA=0./0 (ALFA)
                    A=0.00022/3 (TOMMO)
                    HGVS:
                    10.

                    rs1491342858 has merged into rs61216155 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      1:74085333 (GRCh38)
                      1:74551017 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74085323:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      LRRIQ3 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAA=0./0 (ALFA)
                      A=0.0735/368 (1000Genomes)
                      HGVS:
                      NC_000001.11:g.74085333_74085340del, NC_000001.11:g.74085335_74085340del, NC_000001.11:g.74085337_74085340del, NC_000001.11:g.74085338_74085340del, NC_000001.11:g.74085339_74085340del, NC_000001.11:g.74085340del, NC_000001.11:g.74085340dup, NC_000001.11:g.74085331_74085340dup, NC_000001.11:g.74085327_74085340dup, NC_000001.11:g.74085325_74085340dup, NC_000001.11:g.74085340_74085341insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.74551017_74551024del, NC_000001.10:g.74551019_74551024del, NC_000001.10:g.74551021_74551024del, NC_000001.10:g.74551022_74551024del, NC_000001.10:g.74551023_74551024del, NC_000001.10:g.74551024del, NC_000001.10:g.74551024dup, NC_000001.10:g.74551015_74551024dup, NC_000001.10:g.74551011_74551024dup, NC_000001.10:g.74551009_74551024dup, NC_000001.10:g.74551024_74551025insAAAAAAAAAAAAAAAAAAA
                      11.

                      rs1491301998 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        1:74073611 (GRCh38)
                        1:74539296 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:74073611::T
                        Gene:
                        LRRIQ3 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000033/1 (GnomAD)
                        HGVS:
                        12.

                        rs1491294826 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->C [Show Flanks]
                          Chromosome:
                          1:74174565 (GRCh38)
                          1:74640250 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:74174565::C
                          Gene:
                          LRRIQ3 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000018/2 (GnomAD)
                          HGVS:
                          13.

                          rs1491283137 has merged into rs143015235 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT [Show Flanks]
                            Chromosome:
                            1:74054754 (GRCh38)
                            1:74520438 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000001.11:74054739:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT
                            Gene:
                            LRRIQ3 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            ATATATATATATATAT=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            -=0.125/5 (GENOME_DK)
                            HGVS:
                            14.

                            rs1491233534 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->TACA,TATACA,TATATACA,TATATATACA,TATATATATACA [Show Flanks]
                              Chromosome:
                              1:74055211 (GRCh38)
                              1:74520896 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:74055211:A:ATACA,NC_000001.11:74055211:A:ATATACA,NC_000001.11:74055211:A:ATATATACA,NC_000001.11:74055211:A:ATATATATACA,NC_000001.11:74055211:A:ATATATATATACA
                              Gene:
                              LRRIQ3 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ATATACA=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491210643 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TC>- [Show Flanks]
                                Chromosome:
                                1:74063083 (GRCh38)
                                1:74528767 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:74063082:TC:
                                Gene:
                                LRRIQ3 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0.004698/21 (ALFA)
                                -=0.00064/11 (TOMMO)
                                -=0.001066/149 (GnomAD)
                                -=0.005/3 (NorthernSweden)
                                HGVS:
                                16.

                                rs1491144914 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CT>- [Show Flanks]
                                  Chromosome:
                                  1:74049925 (GRCh38)
                                  1:74515609 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:74049923:TCT:T
                                  Gene:
                                  LRRIQ3 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  -=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491126084 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->AACT [Show Flanks]
                                    Chromosome:
                                    1:74116039 (GRCh38)
                                    1:74581724 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:74116039:CT:CTAACT
                                    Gene:
                                    LRRIQ3 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    CTAACT=0.000071/1 (ALFA)
                                    CTAA=0.000029/4 (GnomAD)
                                    CTAA=0.000045/12 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1491106400 has merged into rs112600827 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CT>-,CTCT [Show Flanks]
                                      Chromosome:
                                      1:74054758 (GRCh38)
                                      1:74520442 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:74054756:TCT:T,NC_000001.11:74054756:TCT:TCTCT
                                      Gene:
                                      LRRIQ3 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.01234/188 (ALFA)
                                      -=0.02877/482 (TOMMO)
                                      -=0.04207/156 (TWINSUK)
                                      -=0.045/27 (NorthernSweden)
                                      -=0.05345/206 (ALSPAC)
                                      -=0.13712/246 (Korea1K)
                                      HGVS:
                                      19.

                                      rs1491088016 has merged into rs71772871 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                        Chromosome:
                                        1:74066201 (GRCh38)
                                        1:74531885 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:74066187:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                        Gene:
                                        LRRIQ3 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AAAAAAAAAAAAAAA=0./0 (ALFA)
                                        -=0.0867/334 (ALSPAC)
                                        A=0.2/8 (GENOME_DK)
                                        A=0.4483/2245 (1000Genomes)
                                        HGVS:
                                        NC_000001.11:g.74066201_74066204del, NC_000001.11:g.74066202_74066204del, NC_000001.11:g.74066203_74066204del, NC_000001.11:g.74066204del, NC_000001.11:g.74066204dup, NC_000001.11:g.74066203_74066204dup, NC_000001.11:g.74066201_74066204dup, NC_000001.11:g.74066200_74066204dup, NC_000001.11:g.74066198_74066204dup, NC_000001.11:g.74066190_74066204dup, NC_000001.11:g.74066204_74066205insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.74531885_74531888del, NC_000001.10:g.74531886_74531888del, NC_000001.10:g.74531887_74531888del, NC_000001.10:g.74531888del, NC_000001.10:g.74531888dup, NC_000001.10:g.74531887_74531888dup, NC_000001.10:g.74531885_74531888dup, NC_000001.10:g.74531884_74531888dup, NC_000001.10:g.74531882_74531888dup, NC_000001.10:g.74531874_74531888dup, NC_000001.10:g.74531888_74531889insAAAAAAAAAAAAAAAAAAAAAAAAA
                                        20.

                                        rs1491084228 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->T [Show Flanks]
                                          Chromosome:
                                          1:74139128 (GRCh38)
                                          1:74604813 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:74139128:T:TT
                                          Gene:
                                          LRRIQ3 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TT=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000188/1 (GnomAD)
                                          HGVS:

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