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Items: 1 to 20 of 2334

1.

rs1491552065 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TA [Show Flanks]
    Chromosome:
    3:116366014 (GRCh38)
    3:116084862 (GRCh37)
    Canonical SPDI:
    NC_000003.12:116366014:A:ATA
    Gene:
    LSAMP (Varview), LSAMP-AS1 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    ATA=0./0 (ALFA)
    AT=0.0001/2 (GnomAD)
    HGVS:
    2.

    rs1491334089 has merged into rs67452614 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAATTATGAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      3:116366020 (GRCh38)
      3:116084867 (GRCh37)
      Canonical SPDI:
      NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTATGAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      LSAMP (Varview), LSAMP-AS1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAA=0./0 (ALFA)
      HGVS:
      NC_000003.12:g.116366020_116366039del, NC_000003.12:g.116366025_116366039del, NC_000003.12:g.116366026_116366039del, NC_000003.12:g.116366028_116366039del, NC_000003.12:g.116366029_116366039del, NC_000003.12:g.116366030_116366039del, NC_000003.12:g.116366031_116366039del, NC_000003.12:g.116366032_116366039del, NC_000003.12:g.116366033_116366039del, NC_000003.12:g.116366034_116366039del, NC_000003.12:g.116366035_116366039del, NC_000003.12:g.116366036_116366039del, NC_000003.12:g.116366037_116366039del, NC_000003.12:g.116366038_116366039del, NC_000003.12:g.116366039del, NC_000003.12:g.116366039dup, NC_000003.12:g.116366038_116366039dup, NC_000003.12:g.116366037_116366039dup, NC_000003.12:g.116366036_116366039dup, NC_000003.12:g.116366035_116366039dup, NC_000003.12:g.116366034_116366039dup, NC_000003.12:g.116366033_116366039dup, NC_000003.12:g.116366032_116366039dup, NC_000003.12:g.116366031_116366039dup, NC_000003.12:g.116366030_116366039dup, NC_000003.12:g.116366029_116366039dup, NC_000003.12:g.116366028_116366039dup, NC_000003.12:g.116366027_116366039dup, NC_000003.12:g.116366026_116366039dup, NC_000003.12:g.116366025_116366039dup, NC_000003.12:g.116366024_116366039dup, NC_000003.12:g.116366023_116366039dup, NC_000003.12:g.116366022_116366039dup, NC_000003.12:g.116366039_116366040insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.116366014_116366039A[34]TTATGAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.116084867_116084886del, NC_000003.11:g.116084872_116084886del, NC_000003.11:g.116084873_116084886del, NC_000003.11:g.116084875_116084886del, NC_000003.11:g.116084876_116084886del, NC_000003.11:g.116084877_116084886del, NC_000003.11:g.116084878_116084886del, NC_000003.11:g.116084879_116084886del, NC_000003.11:g.116084880_116084886del, NC_000003.11:g.116084881_116084886del, NC_000003.11:g.116084882_116084886del, NC_000003.11:g.116084883_116084886del, NC_000003.11:g.116084884_116084886del, NC_000003.11:g.116084885_116084886del, NC_000003.11:g.116084886del, NC_000003.11:g.116084886dup, NC_000003.11:g.116084885_116084886dup, NC_000003.11:g.116084884_116084886dup, NC_000003.11:g.116084883_116084886dup, NC_000003.11:g.116084882_116084886dup, NC_000003.11:g.116084881_116084886dup, NC_000003.11:g.116084880_116084886dup, NC_000003.11:g.116084879_116084886dup, NC_000003.11:g.116084878_116084886dup, NC_000003.11:g.116084877_116084886dup, NC_000003.11:g.116084876_116084886dup, NC_000003.11:g.116084875_116084886dup, NC_000003.11:g.116084874_116084886dup, NC_000003.11:g.116084873_116084886dup, NC_000003.11:g.116084872_116084886dup, NC_000003.11:g.116084871_116084886dup, NC_000003.11:g.116084870_116084886dup, NC_000003.11:g.116084869_116084886dup, NC_000003.11:g.116084886_116084887insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.116084861_116084886A[34]TTATGAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
      3.

      rs1490879979 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        3:116370560 (GRCh38)
        3:116089407 (GRCh37)
        Canonical SPDI:
        NC_000003.12:116370559:T:C,NC_000003.12:116370559:T:G
        Gene:
        LSAMP (Varview), LSAMP-AS1 (Varview)
        Functional Consequence:
        500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        C=0.000014/2 (GnomAD)
        HGVS:
        4.

        rs1490785465 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:116362695 (GRCh38)
          3:116081542 (GRCh37)
          Canonical SPDI:
          NC_000003.12:116362694:G:A
          Gene:
          LSAMP (Varview), LSAMP-AS1 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          HGVS:
          5.

          rs1490780634 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C,T [Show Flanks]
            Chromosome:
            3:116364484 (GRCh38)
            3:116083331 (GRCh37)
            Canonical SPDI:
            NC_000003.12:116364483:A:C,NC_000003.12:116364483:A:T
            Gene:
            LSAMP (Varview), LSAMP-AS1 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0./0 (SGDP_PRJ)
            T=0.00009/2 (GnomAD)
            HGVS:
            6.

            rs1490760659 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              3:116362758 (GRCh38)
              3:116081605 (GRCh37)
              Canonical SPDI:
              NC_000003.12:116362757:C:A
              Gene:
              LSAMP (Varview), LSAMP-AS1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              7.

              rs1490674853 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                3:116365370 (GRCh38)
                3:116084217 (GRCh37)
                Canonical SPDI:
                NC_000003.12:116365369:C:G
                Gene:
                LSAMP (Varview), LSAMP-AS1 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.00008/1 (ALFA)
                HGVS:
                8.

                rs1490616184 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  3:116363731 (GRCh38)
                  3:116082578 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:116363730:C:T
                  Gene:
                  LSAMP (Varview), LSAMP-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0.0013/6 (ALFA)
                  HGVS:
                  9.

                  rs1490290862 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    3:116365870 (GRCh38)
                    3:116084717 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:116365869:G:A
                    Gene:
                    LSAMP (Varview), LSAMP-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1489806702 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      A>- [Show Flanks]
                      Chromosome:
                      3:116364201 (GRCh38)
                      3:116083048 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:116364200:A:
                      Gene:
                      LSAMP (Varview), LSAMP-AS1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1489701534 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,G [Show Flanks]
                        Chromosome:
                        3:116368276 (GRCh38)
                        3:116087123 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:116368275:C:A,NC_000003.12:116368275:C:G
                        Gene:
                        LSAMP (Varview), LSAMP-AS1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1489204988 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          T>A
                          Chromosome:
                          no mapping
                          Canonical SPDI:
                          13.

                          rs1489162734 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            3:116365878 (GRCh38)
                            3:116084725 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:116365877:G:T
                            Gene:
                            LSAMP (Varview), LSAMP-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1488919792 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              3:116366028 (GRCh38)
                              3:116084875 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:116366027:A:T
                              Gene:
                              LSAMP (Varview), LSAMP-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1488894356 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                3:116366846 (GRCh38)
                                3:116085693 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:116366845:G:A
                                Gene:
                                LSAMP (Varview), LSAMP-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_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.

                                rs1488679589 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  T>- [Show Flanks]
                                  Chromosome:
                                  3:116369446 (GRCh38)
                                  3:116088293 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:116369445:TT:T
                                  Gene:
                                  LSAMP (Varview), LSAMP-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TT=0./0 (ALFA)
                                  -=0.000064/9 (GnomAD)
                                  -=0.000079/21 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488316355 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    3:116362687 (GRCh38)
                                    3:116081534 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:116362686:G:C
                                    Gene:
                                    LSAMP (Varview), LSAMP-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1488127656 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      3:116360309 (GRCh38)
                                      3:116079156 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:116360308:G:A
                                      Gene:
                                      LSAMP (Varview), LSAMP-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      G=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      19.

                                      rs1487791734 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        3:116362740 (GRCh38)
                                        3:116081587 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:116362739:C:A
                                        Gene:
                                        LSAMP (Varview), LSAMP-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.00002/2 (GnomAD)
                                        A=0.0007/2 (KOREAN)
                                        A=0.00168/3 (Korea1K)
                                        A=0.00407/68 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1487224429 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          3:116361137 (GRCh38)
                                          3:116079984 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:116361136:G:C
                                          Gene:
                                          LSAMP (Varview), LSAMP-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0.0003/3 (TOMMO)
                                          HGVS:

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