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Items: 1 to 20 of 14023

1.

rs1491548894 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AT [Show Flanks]
    Chromosome:
    14:97642948 (GRCh38)
    14:98109286 (GRCh37)
    Canonical SPDI:
    NC_000014.9:97642948:T:TAT
    Gene:
    LINC02291 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TAT=0./0 (ALFA)
    TA=0.000004/1 (TOPMED)
    TA=0.000097/1 (GnomAD)
    TA=0.000212/3 (TOMMO)
    HGVS:
    2.

    rs1491396059 has merged into rs34055914 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      14:97636368 (GRCh38)
      14:98102705 (GRCh37)
      Canonical SPDI:
      NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      LINC02291 (Varview), LOC124903378 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAA=0./0 (ALFA)
      HGVS:
      NC_000014.9:g.97636368_97636380del, NC_000014.9:g.97636369_97636380del, NC_000014.9:g.97636370_97636380del, NC_000014.9:g.97636371_97636380del, NC_000014.9:g.97636372_97636380del, NC_000014.9:g.97636373_97636380del, NC_000014.9:g.97636374_97636380del, NC_000014.9:g.97636375_97636380del, NC_000014.9:g.97636376_97636380del, NC_000014.9:g.97636377_97636380del, NC_000014.9:g.97636378_97636380del, NC_000014.9:g.97636379_97636380del, NC_000014.9:g.97636380del, NC_000014.9:g.97636380dup, NC_000014.9:g.97636379_97636380dup, NC_000014.9:g.97636378_97636380dup, NC_000014.9:g.97636377_97636380dup, NC_000014.9:g.97636376_97636380dup, NC_000014.9:g.97636375_97636380dup, NC_000014.9:g.97636366_97636380dup, NC_000014.9:g.97636380_97636381insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.98102705_98102717del, NC_000014.8:g.98102706_98102717del, NC_000014.8:g.98102707_98102717del, NC_000014.8:g.98102708_98102717del, NC_000014.8:g.98102709_98102717del, NC_000014.8:g.98102710_98102717del, NC_000014.8:g.98102711_98102717del, NC_000014.8:g.98102712_98102717del, NC_000014.8:g.98102713_98102717del, NC_000014.8:g.98102714_98102717del, NC_000014.8:g.98102715_98102717del, NC_000014.8:g.98102716_98102717del, NC_000014.8:g.98102717del, NC_000014.8:g.98102717dup, NC_000014.8:g.98102716_98102717dup, NC_000014.8:g.98102715_98102717dup, NC_000014.8:g.98102714_98102717dup, NC_000014.8:g.98102713_98102717dup, NC_000014.8:g.98102712_98102717dup, NC_000014.8:g.98102703_98102717dup, NC_000014.8:g.98102717_98102718insAAAAAAAAAAAAAAAAAAAAAAAAA
      3.

      rs1491328349 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        14:97640581 (GRCh38)
        14:98106918 (GRCh37)
        Canonical SPDI:
        NC_000014.9:97640580:AT:
        Gene:
        LINC02291 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.000184/3 (ALFA)
        -=0.000035/1 (TOMMO)
        -=0.000254/31 (GnomAD)
        HGVS:
        4.

        rs1491324159 has merged into rs10628952 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AC>-,ACAC,ACACAC,ACACACAC,ACACACACAC [Show Flanks]
          Chromosome:
          14:97663212 (GRCh38)
          14:98129549 (GRCh37)
          Canonical SPDI:
          NC_000014.9:97663198:CACACACACACACAC:CACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACACACACAC
          Gene:
          LINC02291 (Varview), LOC105370650 (Varview), LOC124903377 (Varview)
          Functional Consequence:
          intron_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CACACACACACACACACACACAC=0./0 (ALFA)
          -=0.32/192 (NorthernSweden)
          HGVS:
          5.

          rs1491247711 has merged into rs1369778969 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GA>- [Show Flanks]
            Chromosome:
            14:97648015 (GRCh38)
            14:98114352 (GRCh37)
            Canonical SPDI:
            NC_000014.9:97648013:AGA:A
            Gene:
            LINC02291 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            -=0.00038/49 (GnomAD)
            HGVS:
            6.

            rs1491144344 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              ->CA
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1491094676 has merged into rs10628952 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AC>-,ACAC,ACACAC,ACACACAC,ACACACACAC [Show Flanks]
                Chromosome:
                14:97663212 (GRCh38)
                14:98129549 (GRCh37)
                Canonical SPDI:
                NC_000014.9:97663198:CACACACACACACAC:CACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACACACACAC
                Gene:
                LINC02291 (Varview), LOC105370650 (Varview), LOC124903377 (Varview)
                Functional Consequence:
                intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CACACACACACACACACACACAC=0./0 (ALFA)
                -=0.32/192 (NorthernSweden)
                HGVS:
                8.

                rs1491093887 has merged into rs755655597 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CACACA>-,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA [Show Flanks]
                  Chromosome:
                  14:97648017 (GRCh38)
                  14:98114354 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:97648015:ACACACA:A,NC_000014.9:97648015:ACACACA:ACACA,NC_000014.9:97648015:ACACACA:ACACACACA,NC_000014.9:97648015:ACACACA:ACACACACACA,NC_000014.9:97648015:ACACACA:ACACACACACACA,NC_000014.9:97648015:ACACACA:ACACACACACACACA
                  Gene:
                  LINC02291 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ACACACACA=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491091351 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->G [Show Flanks]
                    Chromosome:
                    14:97636357 (GRCh38)
                    14:98102695 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:97636357::G
                    Gene:
                    LINC02291 (Varview), LOC124903378 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1491053736 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      14:97640651 (GRCh38)
                      14:98106988 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:97640649:ACA:A
                      Gene:
                      LINC02291 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency
                      MAF:
                      -=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1491019686 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->AC [Show Flanks]
                        Chromosome:
                        14:97663214 (GRCh38)
                        14:98129552 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:97663214::AC
                        Gene:
                        LINC02291 (Varview), LOC105370650 (Varview), LOC124903377 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant
                        HGVS:
                        12.

                        rs1490993015 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          14:97686477 (GRCh38)
                          14:98152814 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:97686476:G:A,NC_000014.9:97686476:G:T
                          Gene:
                          LINC02291 (Varview), LOC105370650 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          A=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1490968036 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            14:97687942 (GRCh38)
                            14:98154279 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:97687941:C:T
                            Gene:
                            LINC02291 (Varview), LOC105370650 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000071/1 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000023/6 (TOPMED)
                            HGVS:
                            14.

                            rs1490887481 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GCAC [Show Flanks]
                              Chromosome:
                              14:97663202 (GRCh38)
                              14:98129540 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:97663202:CAC:CACGCAC
                              Gene:
                              LINC02291 (Varview), LOC105370650 (Varview), LOC124903377 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              CACGCAC=0.000084/1 (ALFA)
                              CACG=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1490842710 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                14:97657893 (GRCh38)
                                14:98124230 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:97657892:C:A
                                Gene:
                                LINC02291 (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:
                                16.

                                rs1490822322 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  14:97643356 (GRCh38)
                                  14:98109693 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:97643355:C:A
                                  Gene:
                                  LINC02291 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490799583 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    14:97657256 (GRCh38)
                                    14:98123593 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:97657255:G:A
                                    Gene:
                                    LINC02291 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490638728 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      14:97655869 (GRCh38)
                                      14:98122206 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:97655868:A:G,NC_000014.9:97655868:A:T
                                      Gene:
                                      LINC02291 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490620967 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        14:97671104 (GRCh38)
                                        14:98137441 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:97671103:C:T
                                        Gene:
                                        LINC02291 (Varview), LOC105370650 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000021/3 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490595286 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->AAG [Show Flanks]
                                          Chromosome:
                                          14:97669475 (GRCh38)
                                          14:98135813 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:97669475:AGAAG:AGAAGAAG
                                          Gene:
                                          LINC02291 (Varview), LOC105370650 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AGAAGAAG=0./0 (ALFA)
                                          AGA=0.000007/1 (GnomAD)
                                          AGA=0.000008/2 (TOPMED)
                                          HGVS:

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