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Items: 1 to 20 of 1000

1.

rs1491568161 has merged into rs34644413 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    5:157754702 (GRCh38)
    5:157181710 (GRCh37)
    Canonical SPDI:
    NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:157754692:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    LSM11 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAAA=0./0 (ALFA)
    AA=0.473/2369 (1000Genomes)
    HGVS:
    NC_000005.10:g.157754702_157754713del, NC_000005.10:g.157754708_157754713del, NC_000005.10:g.157754709_157754713del, NC_000005.10:g.157754710_157754713del, NC_000005.10:g.157754711_157754713del, NC_000005.10:g.157754712_157754713del, NC_000005.10:g.157754713del, NC_000005.10:g.157754713dup, NC_000005.10:g.157754712_157754713dup, NC_000005.10:g.157754711_157754713dup, NC_000005.10:g.157754710_157754713dup, NC_000005.10:g.157754709_157754713dup, NC_000005.9:g.157181710_157181721del, NC_000005.9:g.157181716_157181721del, NC_000005.9:g.157181717_157181721del, NC_000005.9:g.157181718_157181721del, NC_000005.9:g.157181719_157181721del, NC_000005.9:g.157181720_157181721del, NC_000005.9:g.157181721del, NC_000005.9:g.157181721dup, NC_000005.9:g.157181720_157181721dup, NC_000005.9:g.157181719_157181721dup, NC_000005.9:g.157181718_157181721dup, NC_000005.9:g.157181717_157181721dup
    2.

    rs1491430655 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      5:157754692 (GRCh38)
      5:157181700 (GRCh37)
      Canonical SPDI:
      NC_000005.10:157754691:CA:
      Gene:
      LSM11 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.01104/131 (ALFA)
      -=0.00102/45 (GnomAD)
      -=0.00149/42 (TOMMO)
      HGVS:
      3.

      rs1491151814 has merged into rs35074350 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>-,T,TTT,TTTT,TTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        5:157753932 (GRCh38)
        5:157180940 (GRCh37)
        Canonical SPDI:
        NC_000005.10:157753922:TTTTTTTTTTT:TTTTTTTTT,NC_000005.10:157753922:TTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:157753922:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:157753922:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:157753922:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:157753922:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
        Gene:
        LSM11 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTT=0./0 (ALFA)
        -=0.003/7 (1000Genomes)
        HGVS:
        4.

        rs1491135725 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GA>- [Show Flanks]
          Chromosome:
          5:157752866 (GRCh38)
          5:157179874 (GRCh37)
          Canonical SPDI:
          NC_000005.10:157752864:AGA:A
          Gene:
          LSM11 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000084/1 (ALFA)
          -=0.000008/1 (GnomAD)
          HGVS:
          5.

          rs1490834514 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            5:157746635 (GRCh38)
            5:157173643 (GRCh37)
            Canonical SPDI:
            NC_000005.10:157746634:C:T
            Gene:
            LSM11 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000014/2 (GnomAD)
            T=0.000042/11 (TOPMED)
            HGVS:
            6.

            rs1490686323 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              5:157750917 (GRCh38)
              5:157177925 (GRCh37)
              Canonical SPDI:
              NC_000005.10:157750916:G:A
              Gene:
              LSM11 (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:
              7.

              rs1490615406 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                5:157748211 (GRCh38)
                5:157175219 (GRCh37)
                Canonical SPDI:
                NC_000005.10:157748210:T:C
                Gene:
                LSM11 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1490598344 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  5:157756369 (GRCh38)
                  5:157183377 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:157756368:A:G
                  Gene:
                  LSM11 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000045/12 (TOPMED)
                  G=0.00005/7 (GnomAD)
                  HGVS:
                  9.

                  rs1489867718 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    5:157754158 (GRCh38)
                    5:157181166 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:157754157:C:T
                    Gene:
                    LSM11 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1489436263 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:157758385 (GRCh38)
                      5:157185393 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:157758384:C:T
                      Gene:
                      LSM11 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000224/1 (ALFA)
                      T=0.000007/1 (GnomAD)
                      T=0.000223/1 (Estonian)
                      HGVS:
                      11.

                      rs1489282576 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        5:157752990 (GRCh38)
                        5:157179998 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:157752989:T:A
                        Gene:
                        LSM11 (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:
                        12.

                        rs1488967227 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          5:157744946 (GRCh38)
                          5:157171954 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:157744945:G:A
                          Gene:
                          LSM11 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1488854225 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            5:157746143 (GRCh38)
                            5:157173151 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:157746142:T:
                            Gene:
                            LSM11 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000007/1 (GnomAD)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1488796176 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              5:157744150 (GRCh38)
                              5:157171158 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:157744149:C:A,NC_000005.10:157744149:C:T
                              Gene:
                              LSM11 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1488689683 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                5:157742256 (GRCh38)
                                5:157169264 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:157742255:C:G,NC_000005.10:157742255:C:T
                                Gene:
                                LSM11 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                T=0.000156/1 (1000Genomes)
                                HGVS:
                                16.

                                rs1488667232 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  5:157743605 (GRCh38)
                                  5:157170613 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:157743604:C:T
                                  Gene:
                                  LSM11 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1488343609 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    5:157744634 (GRCh38)
                                    5:157171642 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:157744633:G:A
                                    Gene:
                                    LSM11 (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.

                                    rs1488202004 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      5:157758828 (GRCh38)
                                      5:157185836 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:157758827:A:G,NC_000005.10:157758827:A:T
                                      Gene:
                                      LSM11 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      G=0.000035/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1488157768 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        5:157744145 (GRCh38)
                                        5:157171153 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:157744144:G:A,NC_000005.10:157744144:G:C
                                        Gene:
                                        LSM11 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1488114479 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          5:157754665 (GRCh38)
                                          5:157181673 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:157754664:C:G
                                          Gene:
                                          LSM11 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000008/2 (TOPMED)
                                          HGVS:

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