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Items: 1 to 20 of 1853

1.

rs1491527408 has merged into rs66751850 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    7:12690307 (GRCh38)
    7:12729932 (GRCh37)
    Canonical SPDI:
    NC_000007.14:12690300:TTTTTTTTTTTTTT:TTTTTT,NC_000007.14:12690300:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:12690300:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:12690300:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:12690300:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:12690300:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:12690300:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:12690300:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:12690300:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:12690300:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    ARL4A (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTT=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.45/18 (GENOME_DK)
    T=0.466019/1728 (TWINSUK)
    T=0.473793/1826 (ALSPAC)
    -=0.478333/287 (NorthernSweden)
    HGVS:
    NC_000007.14:g.12690307_12690314del, NC_000007.14:g.12690310_12690314del, NC_000007.14:g.12690312_12690314del, NC_000007.14:g.12690313_12690314del, NC_000007.14:g.12690314del, NC_000007.14:g.12690314dup, NC_000007.14:g.12690313_12690314dup, NC_000007.14:g.12690308_12690314dup, NC_000007.14:g.12690307_12690314dup, NC_000007.14:g.12690302_12690314dup, NC_000007.13:g.12729932_12729939del, NC_000007.13:g.12729935_12729939del, NC_000007.13:g.12729937_12729939del, NC_000007.13:g.12729938_12729939del, NC_000007.13:g.12729939del, NC_000007.13:g.12729939dup, NC_000007.13:g.12729938_12729939dup, NC_000007.13:g.12729933_12729939dup, NC_000007.13:g.12729932_12729939dup, NC_000007.13:g.12729927_12729939dup, NM_005738.5:c.*1450_*1457del, NM_005738.5:c.*1453_*1457del, NM_005738.5:c.*1455_*1457del, NM_005738.5:c.*1456_*1457del, NM_005738.5:c.*1457del, NM_005738.5:c.*1457dup, NM_005738.5:c.*1456_*1457dup, NM_005738.5:c.*1451_*1457dup, NM_005738.5:c.*1450_*1457dup, NM_005738.5:c.*1445_*1457dup, NM_005738.4:c.*1450_*1457del, NM_005738.4:c.*1453_*1457del, NM_005738.4:c.*1455_*1457del, NM_005738.4:c.*1456_*1457del, NM_005738.4:c.*1457del, NM_005738.4:c.*1457dup, NM_005738.4:c.*1456_*1457dup, NM_005738.4:c.*1451_*1457dup, NM_005738.4:c.*1450_*1457dup, NM_005738.4:c.*1445_*1457dup, NM_212460.4:c.*1450_*1457del, NM_212460.4:c.*1453_*1457del, NM_212460.4:c.*1455_*1457del, NM_212460.4:c.*1456_*1457del, NM_212460.4:c.*1457del, NM_212460.4:c.*1457dup, NM_212460.4:c.*1456_*1457dup, NM_212460.4:c.*1451_*1457dup, NM_212460.4:c.*1450_*1457dup, NM_212460.4:c.*1445_*1457dup, NM_212460.3:c.*1450_*1457del, NM_212460.3:c.*1453_*1457del, NM_212460.3:c.*1455_*1457del, NM_212460.3:c.*1456_*1457del, NM_212460.3:c.*1457del, NM_212460.3:c.*1457dup, NM_212460.3:c.*1456_*1457dup, NM_212460.3:c.*1451_*1457dup, NM_212460.3:c.*1450_*1457dup, NM_212460.3:c.*1445_*1457dup, NM_001037164.3:c.*1450_*1457del, NM_001037164.3:c.*1453_*1457del, NM_001037164.3:c.*1455_*1457del, NM_001037164.3:c.*1456_*1457del, NM_001037164.3:c.*1457del, NM_001037164.3:c.*1457dup, NM_001037164.3:c.*1456_*1457dup, NM_001037164.3:c.*1451_*1457dup, NM_001037164.3:c.*1450_*1457dup, NM_001037164.3:c.*1445_*1457dup, NM_001037164.2:c.*1450_*1457del, NM_001037164.2:c.*1453_*1457del, NM_001037164.2:c.*1455_*1457del, NM_001037164.2:c.*1456_*1457del, NM_001037164.2:c.*1457del, NM_001037164.2:c.*1457dup, NM_001037164.2:c.*1456_*1457dup, NM_001037164.2:c.*1451_*1457dup, NM_001037164.2:c.*1450_*1457dup, NM_001037164.2:c.*1445_*1457dup, NM_001195396.2:c.*1450_*1457del, NM_001195396.2:c.*1453_*1457del, NM_001195396.2:c.*1455_*1457del, NM_001195396.2:c.*1456_*1457del, NM_001195396.2:c.*1457del, NM_001195396.2:c.*1457dup, NM_001195396.2:c.*1456_*1457dup, NM_001195396.2:c.*1451_*1457dup, NM_001195396.2:c.*1450_*1457dup, NM_001195396.2:c.*1445_*1457dup, NM_001195396.1:c.*1450_*1457del, NM_001195396.1:c.*1453_*1457del, NM_001195396.1:c.*1455_*1457del, NM_001195396.1:c.*1456_*1457del, NM_001195396.1:c.*1457del, NM_001195396.1:c.*1457dup, NM_001195396.1:c.*1456_*1457dup, NM_001195396.1:c.*1451_*1457dup, NM_001195396.1:c.*1450_*1457dup, NM_001195396.1:c.*1445_*1457dup
    2.

    rs1491211998 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GTTTTTT [Show Flanks]
      Chromosome:
      7:12690301 (GRCh38)
      7:12729927 (GRCh37)
      Canonical SPDI:
      NC_000007.14:12690301:TTTTTT:TTTTTTGTTTTTT
      Gene:
      ARL4A (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTGTTTTTT=0.000071/1 (ALFA)
      TTTTTTG=0.000023/6 (TOPMED)
      TTTTTTG=0.000092/4 (GnomAD)
      HGVS:
      3.

      rs1491125189 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TTAA [Show Flanks]
        Chromosome:
        7:12689169 (GRCh38)
        7:12728795 (GRCh37)
        Canonical SPDI:
        NC_000007.14:12689169:AA:AATTAA
        Gene:
        ARL4A (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        AATTAA=0.000071/1 (ALFA)
        AATT=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1491034343 has merged into rs11377439 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
          Chromosome:
          7:12686140 (GRCh38)
          7:12725765 (GRCh37)
          Canonical SPDI:
          NC_000007.14:12686128:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:12686128:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:12686128:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:12686128:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:12686128:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:12686128:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
          Gene:
          ARL4A (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAAA=0./0 (ALFA)
          HGVS:
          5.

          rs1490820588 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TGAA>- [Show Flanks]
            Chromosome:
            7:12691359 (GRCh38)
            7:12730984 (GRCh37)
            Canonical SPDI:
            NC_000007.14:12691356:AATGAA:AA
            Gene:
            ARL4A (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa
            MAF:
            AA=0./0 (ALFA)
            -=0.000011/3 (TOPMED)
            HGVS:
            6.

            rs1490317819 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              7:12686910 (GRCh38)
              7:12726535 (GRCh37)
              Canonical SPDI:
              NC_000007.14:12686909:C:A,NC_000007.14:12686909:C:T
              Gene:
              ARL4A (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000345/1 (KOREAN)
              HGVS:
              7.

              rs1490004459 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                7:12690990 (GRCh38)
                7:12730615 (GRCh37)
                Canonical SPDI:
                NC_000007.14:12690989:T:C
                Gene:
                ARL4A (Varview)
                Functional Consequence:
                downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (TOPMED)
                C=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1489881879 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  7:12686121 (GRCh38)
                  7:12725746 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:12686120:T:A,NC_000007.14:12686120:T:C
                  Gene:
                  ARL4A (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.00033/5 (ALFA)
                  HGVS:
                  9.

                  rs1488594285 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    7:12690643 (GRCh38)
                    7:12730268 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:12690642:C:T
                    Gene:
                    ARL4A (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1488459116 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      7:12689835 (GRCh38)
                      7:12729460 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:12689834:A:C
                      Gene:
                      ARL4A (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1488418447 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        7:12688762 (GRCh38)
                        7:12728387 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:12688761:A:G
                        Gene:
                        ARL4A (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000111/1 (ALFA)
                        G=0.000008/2 (GnomAD_exomes)
                        G=0.000342/1 (KOREAN)
                        HGVS:
                        12.

                        rs1488397252 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          7:12688968 (GRCh38)
                          7:12728593 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:12688967:A:G
                          Gene:
                          ARL4A (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1488333898 has merged into rs1458897046 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GGCGCGCGGGC>-,GGCGCGCGGGCGGCGCGCGGGC [Show Flanks]
                            Chromosome:
                            7:12686843 (GRCh38)
                            7:12726468 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:12686837:CGGGCGGCGCGCGGGC:CGGGC,NC_000007.14:12686837:CGGGCGGCGCGCGGGC:CGGGCGGCGCGCGGGCGGCGCGCGGGC
                            Gene:
                            ARL4A (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CGGGCGGCGCGCGGGCGGCGCGCGGGC=0./0 (ALFA)
                            -=0.000026/7 (TOPMED)
                            CGGGCGGCGCG=0.000156/1 (1000Genomes)
                            HGVS:
                            14.

                            rs1487942019 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              7:12689928 (GRCh38)
                              7:12729554 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:12689928::T
                              Gene:
                              ARL4A (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1487807862 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                7:12688938 (GRCh38)
                                7:12728563 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:12688937:T:G
                                Gene:
                                ARL4A (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1486959429 [Homo sapiens]
                                  Variant type:
                                  SNV:
                                  Alleles:
                                  C>A
                                  Chromosome:
                                  no mapping
                                  Canonical SPDI:
                                  17.

                                  rs1486478797 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    7:12687458 (GRCh38)
                                    7:12727083 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:12687457:G:C
                                    Gene:
                                    ARL4A (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1486428520 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      7:12690977 (GRCh38)
                                      7:12730602 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:12690976:T:C
                                      Gene:
                                      ARL4A (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486405406 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        7:12685712 (GRCh38)
                                        7:12725337 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:12685711:T:C
                                        Gene:
                                        ARL4A (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486163464 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->A [Show Flanks]
                                          Chromosome:
                                          7:12688183 (GRCh38)
                                          7:12727809 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:12688183:A:AA
                                          Gene:
                                          ARL4A (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AA=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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