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Items: 1 to 20 of 14934

1.

rs1491531984 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GC>- [Show Flanks]
    Chromosome:
    1:204652279 (GRCh38)
    1:204621407 (GRCh37)
    Canonical SPDI:
    NC_000001.11:204652277:CGC:C
    Gene:
    LRRN2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.00079/13 (TOMMO)
    HGVS:
    2.

    rs1491464491 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->AC [Show Flanks]
      Chromosome:
      1:204676173 (GRCh38)
      1:204645302 (GRCh37)
      Canonical SPDI:
      NC_000001.11:204676173:AC:ACAC
      Gene:
      LRRN2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      ACAC=0./0 (ALFA)
      AC=0.000015/2 (GnomAD)
      HGVS:
      3.

      rs1491463383 has merged into rs1042438499 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        T>-,TT,TTT [Show Flanks]
        Chromosome:
        1:204670007 (GRCh38)
        1:204639135 (GRCh37)
        Canonical SPDI:
        NC_000001.11:204670006:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:204670006:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:204670006:TTTTTTTTTTT:TTTTTTTTTTTTT
        Gene:
        LRRN2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTT=0.00007/1 (ALFA)
        T=0.00136/20 (TOMMO)
        -=0.00248/4 (Korea1K)
        HGVS:
        4.

        rs1491403228 has merged into rs11284966 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          1:204647167 (GRCh38)
          1:204616295 (GRCh37)
          Canonical SPDI:
          NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:204647155:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          LRRN2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAAAA=0./0 (ALFA)
          A=0.1048/525 (1000Genomes)
          -=0.1663/641 (ALSPAC)
          HGVS:
          5.

          rs1491401941 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TA>- [Show Flanks]
            Chromosome:
            1:204647155 (GRCh38)
            1:204616283 (GRCh37)
            Canonical SPDI:
            NC_000001.11:204647154:TA:
            Gene:
            LRRN2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:
            6.

            rs1491397399 has merged into rs879629462 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TT>-,TTT [Show Flanks]
              Chromosome:
              1:204671403 (GRCh38)
              1:204640531 (GRCh37)
              Canonical SPDI:
              NC_000001.11:204671401:TTT:T,NC_000001.11:204671401:TTT:TTTT
              Gene:
              LRRN2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.01644/195 (ALFA)
              -=0.0033/55 (TOMMO)
              -=0.01638/30 (Korea1K)
              -=0.02389/2040 (GnomAD)
              HGVS:
              7.

              rs1491339319 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TT>- [Show Flanks]
                Chromosome:
                1:204671395 (GRCh38)
                1:204640523 (GRCh37)
                Canonical SPDI:
                NC_000001.11:204671393:TTT:T
                Gene:
                LRRN2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000084/1 (ALFA)
                -=0.002697/353 (GnomAD)
                HGVS:
                8.

                rs1491326191 has merged into rs79698374 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TATA>-,TA,TATATA [Show Flanks]
                  Chromosome:
                  1:204657339 (GRCh38)
                  1:204626467 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:204657334:TATATATA:TATA,NC_000001.11:204657334:TATATATA:TATATA,NC_000001.11:204657334:TATATATA:TATATATATA
                  Gene:
                  LRRN2 (Varview), LOC124904490 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TATATA=0./0 (ALFA)
                  -=0.00014/4 (TOMMO)
                  TA=0.00045/2 (Estonian)
                  HGVS:
                  9.

                  rs1491297668 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CC>- [Show Flanks]
                    Chromosome:
                    1:204624252 (GRCh38)
                    1:204593380 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:204624251:CC:
                    Gene:
                    LRRN2 (Varview), LOC105371692 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1491296117 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      1:204666962 (GRCh38)
                      1:204636090 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:204666961:CA:
                      Gene:
                      LRRN2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1491213588 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        GT>- [Show Flanks]
                        Chromosome:
                        1:204670006 (GRCh38)
                        1:204639134 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:204670005:GT:
                        Gene:
                        LRRN2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0.00025/3 (ALFA)
                        HGVS:
                        12.

                        rs1491199868 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->CACACACA,CACACACACA [Show Flanks]
                          Chromosome:
                          1:204657335 (GRCh38)
                          1:204626464 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:204657335:A:ACACACACA,NC_000001.11:204657335:A:ACACACACACA
                          Gene:
                          LRRN2 (Varview), LOC124904490 (Varview)
                          Functional Consequence:
                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          ACACACACACA=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491177041 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CCCCAGCC [Show Flanks]
                            Chromosome:
                            1:204652278 (GRCh38)
                            1:204621407 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:204652278:GCC:GCCCCCCAGCC
                            Gene:
                            LRRN2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GCCCCCCAGCC=0./0 (ALFA)
                            GCCCCCCA=0.000036/1 (TOMMO)
                            GCCCCCCA=0.00004/5 (GnomAD)
                            HGVS:
                            14.

                            rs1491153204 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->CT [Show Flanks]
                              Chromosome:
                              1:204624252 (GRCh38)
                              1:204593381 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:204624252:CT:CTCT
                              Gene:
                              LRRN2 (Varview), LOC105371692 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CTCT=0./0 (ALFA)
                              CT=0.000007/1 (GnomAD)
                              CT=0.000015/4 (TOPMED)
                              HGVS:
                              15.

                              rs1491117253 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TA>- [Show Flanks]
                                Chromosome:
                                1:204676173 (GRCh38)
                                1:204645301 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:204676172:TA:
                                Gene:
                                LRRN2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491078163 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->GA [Show Flanks]
                                  Chromosome:
                                  1:204659639 (GRCh38)
                                  1:204628768 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:204659639:GA:GAGA
                                  Gene:
                                  LRRN2 (Varview), LOC124904490 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GAGA=0./0 (ALFA)
                                  GA=0.000015/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491068494 has merged into rs34779515 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC [Show Flanks]
                                    Chromosome:
                                    1:204657356 (GRCh38)
                                    1:204626484 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:204657341:ACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC
                                    Gene:
                                    LRRN2 (Varview), LOC124904490 (Varview)
                                    Functional Consequence:
                                    intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    ACACACACACACACACAC=0./0 (ALFA)
                                    -=0.4493/1666 (TWINSUK)
                                    -=0.4642/1789 (ALSPAC)
                                    HGVS:
                                    NC_000001.11:g.204657342AC[7], NC_000001.11:g.204657342AC[9], NC_000001.11:g.204657342AC[10], NC_000001.11:g.204657342AC[11], NC_000001.11:g.204657342AC[12], NC_000001.11:g.204657342AC[14], NC_000001.11:g.204657342AC[15], NC_000001.11:g.204657342AC[16], NC_000001.11:g.204657342AC[17], NC_000001.11:g.204657342AC[18], NC_000001.11:g.204657342AC[19], NC_000001.11:g.204657342AC[20], NC_000001.11:g.204657342AC[21], NC_000001.11:g.204657342AC[22], NC_000001.11:g.204657342AC[23], NC_000001.11:g.204657342AC[24], NC_000001.11:g.204657342AC[25], NC_000001.11:g.204657342AC[26], NC_000001.10:g.204626470AC[7], NC_000001.10:g.204626470AC[9], NC_000001.10:g.204626470AC[10], NC_000001.10:g.204626470AC[11], NC_000001.10:g.204626470AC[12], NC_000001.10:g.204626470AC[14], NC_000001.10:g.204626470AC[15], NC_000001.10:g.204626470AC[16], NC_000001.10:g.204626470AC[17], NC_000001.10:g.204626470AC[18], NC_000001.10:g.204626470AC[19], NC_000001.10:g.204626470AC[20], NC_000001.10:g.204626470AC[21], NC_000001.10:g.204626470AC[22], NC_000001.10:g.204626470AC[23], NC_000001.10:g.204626470AC[24], NC_000001.10:g.204626470AC[25], NC_000001.10:g.204626470AC[26]
                                    18.

                                    rs1490997564 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      1:204680731 (GRCh38)
                                      1:204649859 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:204680730:G:C
                                      Gene:
                                      LRRN2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490987589 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        1:204680572 (GRCh38)
                                        1:204649700 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:204680571:A:T
                                        Gene:
                                        LRRN2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490927839 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          1:204624085 (GRCh38)
                                          1:204593213 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:204624084:T:G
                                          Gene:
                                          LRRN2 (Varview), LOC105371692 (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:

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