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Items: 1 to 20 of 3996

1.

rs1491270784 has merged into rs56101324 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG [Show Flanks]
    Chromosome:
    6:35738295 (GRCh38)
    6:35706072 (GRCh37)
    Canonical SPDI:
    NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000006.12:35738286:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG
    Gene:
    ARMC12 (Varview), LOC285847 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGGGGGG=0./0 (ALFA)
    -=0.2049/1026 (1000Genomes)
    HGVS:
    NC_000006.12:g.35738295_35738296del, NC_000006.12:g.35738296del, NC_000006.12:g.35738296dup, NC_000006.12:g.35738295_35738296dup, NC_000006.12:g.35738294_35738296dup, NC_000006.12:g.35738293_35738296dup, NC_000006.12:g.35738292_35738296dup, NC_000006.12:g.35738291_35738296dup, NC_000006.12:g.35738290_35738296dup, NC_000006.12:g.35738289_35738296dup, NC_000006.12:g.35738288_35738296dup, NC_000006.12:g.35738287_35738296dup, NC_000006.12:g.35738296_35738297insGGGGGGGGGGG, NC_000006.12:g.35738296_35738297insGGGGGGGGGGGG, NC_000006.12:g.35738296_35738297insGGGGGGGGGGGGG, NC_000006.12:g.35738296_35738297insGGGGGGGGGGGGGG, NC_000006.12:g.35738296_35738297insGGGGGGGGGGGGGGG, NC_000006.12:g.35738296_35738297insGGGGGGGGGGGGGGGG, NC_000006.12:g.35738296_35738297insGGGGGGGGGGGGGGGGG, NC_000006.11:g.35706072_35706073del, NC_000006.11:g.35706073del, NC_000006.11:g.35706073dup, NC_000006.11:g.35706072_35706073dup, NC_000006.11:g.35706071_35706073dup, NC_000006.11:g.35706070_35706073dup, NC_000006.11:g.35706069_35706073dup, NC_000006.11:g.35706068_35706073dup, NC_000006.11:g.35706067_35706073dup, NC_000006.11:g.35706066_35706073dup, NC_000006.11:g.35706065_35706073dup, NC_000006.11:g.35706064_35706073dup, NC_000006.11:g.35706073_35706074insGGGGGGGGGGG, NC_000006.11:g.35706073_35706074insGGGGGGGGGGGG, NC_000006.11:g.35706073_35706074insGGGGGGGGGGGGG, NC_000006.11:g.35706073_35706074insGGGGGGGGGGGGGG, NC_000006.11:g.35706073_35706074insGGGGGGGGGGGGGGG, NC_000006.11:g.35706073_35706074insGGGGGGGGGGGGGGGG, NC_000006.11:g.35706073_35706074insGGGGGGGGGGGGGGGGG, NG_052798.1:g.9570_9571del, NG_052798.1:g.9571del, NG_052798.1:g.9571dup, NG_052798.1:g.9570_9571dup, NG_052798.1:g.9569_9571dup, NG_052798.1:g.9568_9571dup, NG_052798.1:g.9567_9571dup, NG_052798.1:g.9566_9571dup, NG_052798.1:g.9565_9571dup, NG_052798.1:g.9564_9571dup, NG_052798.1:g.9563_9571dup, NG_052798.1:g.9562_9571dup, NG_052798.1:g.9571_9572insGGGGGGGGGGG, NG_052798.1:g.9571_9572insGGGGGGGGGGGG, NG_052798.1:g.9571_9572insGGGGGGGGGGGGG, NG_052798.1:g.9571_9572insGGGGGGGGGGGGGG, NG_052798.1:g.9571_9572insGGGGGGGGGGGGGGG, NG_052798.1:g.9571_9572insGGGGGGGGGGGGGGGG, NG_052798.1:g.9571_9572insGGGGGGGGGGGGGGGGG
    2.

    rs1491149796 has merged into rs11365534 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      6:35740912 (GRCh38)
      6:35708689 (GRCh37)
      Canonical SPDI:
      NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:35740897:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      ARMC12 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000006.12:g.35740912_35740917del, NC_000006.12:g.35740913_35740917del, NC_000006.12:g.35740914_35740917del, NC_000006.12:g.35740915_35740917del, NC_000006.12:g.35740916_35740917del, NC_000006.12:g.35740917del, NC_000006.12:g.35740917dup, NC_000006.12:g.35740916_35740917dup, NC_000006.12:g.35740915_35740917dup, NC_000006.12:g.35740914_35740917dup, NC_000006.12:g.35740913_35740917dup, NC_000006.12:g.35740912_35740917dup, NC_000006.12:g.35740911_35740917dup, NC_000006.12:g.35740910_35740917dup, NC_000006.12:g.35740909_35740917dup, NC_000006.12:g.35740908_35740917dup, NC_000006.12:g.35740904_35740917dup, NC_000006.11:g.35708689_35708694del, NC_000006.11:g.35708690_35708694del, NC_000006.11:g.35708691_35708694del, NC_000006.11:g.35708692_35708694del, NC_000006.11:g.35708693_35708694del, NC_000006.11:g.35708694del, NC_000006.11:g.35708694dup, NC_000006.11:g.35708693_35708694dup, NC_000006.11:g.35708692_35708694dup, NC_000006.11:g.35708691_35708694dup, NC_000006.11:g.35708690_35708694dup, NC_000006.11:g.35708689_35708694dup, NC_000006.11:g.35708688_35708694dup, NC_000006.11:g.35708687_35708694dup, NC_000006.11:g.35708686_35708694dup, NC_000006.11:g.35708685_35708694dup, NC_000006.11:g.35708681_35708694dup, NG_052798.1:g.12187_12192del, NG_052798.1:g.12188_12192del, NG_052798.1:g.12189_12192del, NG_052798.1:g.12190_12192del, NG_052798.1:g.12191_12192del, NG_052798.1:g.12192del, NG_052798.1:g.12192dup, NG_052798.1:g.12191_12192dup, NG_052798.1:g.12190_12192dup, NG_052798.1:g.12189_12192dup, NG_052798.1:g.12188_12192dup, NG_052798.1:g.12187_12192dup, NG_052798.1:g.12186_12192dup, NG_052798.1:g.12185_12192dup, NG_052798.1:g.12184_12192dup, NG_052798.1:g.12183_12192dup, NG_052798.1:g.12179_12192dup
      3.

      rs1490808988 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AGAT>- [Show Flanks]
        Chromosome:
        6:35745514 (GRCh38)
        6:35713291 (GRCh37)
        Canonical SPDI:
        NC_000006.12:35745509:AGATAGAT:AGAT
        Gene:
        ARMC12 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AGATAGAT=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490608625 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C,G [Show Flanks]
          Chromosome:
          6:35743930 (GRCh38)
          6:35711707 (GRCh37)
          Canonical SPDI:
          NC_000006.12:35743929:A:C,NC_000006.12:35743929:A:G
          Gene:
          ARMC12 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490336441 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            6:35736390 (GRCh38)
            6:35704167 (GRCh37)
            Canonical SPDI:
            NC_000006.12:35736389:G:T
            Gene:
            ARMC12 (Varview), LOC285847 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000071/1 (TOMMO)
            T=0.000546/1 (Korea1K)
            HGVS:
            6.

            rs1490160272 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:35744683 (GRCh38)
              6:35712460 (GRCh37)
              Canonical SPDI:
              NC_000006.12:35744682:A:G
              Gene:
              ARMC12 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000026/7 (TOPMED)
              HGVS:
              7.

              rs1490111013 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                6:35746982 (GRCh38)
                6:35714759 (GRCh37)
                Canonical SPDI:
                NC_000006.12:35746981:T:G
                Gene:
                ARMC12 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000015/2 (GnomAD)
                HGVS:
                8.

                rs1489947153 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:35748227 (GRCh38)
                  6:35716004 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:35748226:C:T
                  Gene:
                  ARMC12 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1489895703 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    6:35736794 (GRCh38)
                    6:35704571 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:35736793:G:C
                    Gene:
                    ARMC12 (Varview), LOC285847 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0./0 (GnomAD)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1489066537 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      6:35739637 (GRCh38)
                      6:35707414 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:35739636:G:A,NC_000006.12:35739636:G:C
                      Gene:
                      ARMC12 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0./0 (GnomAD)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1488984823 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C [Show Flanks]
                        Chromosome:
                        6:35738529 (GRCh38)
                        6:35706306 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:35738528:G:C
                        Gene:
                        ARMC12 (Varview), LOC285847 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000015/4 (TOPMED)
                        HGVS:
                        12.

                        rs1488535903 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:35747065 (GRCh38)
                          6:35714842 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:35747064:A:G
                          Gene:
                          ARMC12 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000011/3 (TOPMED)
                          HGVS:
                          13.

                          rs1488519021 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            6:35745978 (GRCh38)
                            6:35713755 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:35745977:A:G
                            Gene:
                            ARMC12 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1488259530 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              6:35745908 (GRCh38)
                              6:35713685 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:35745907:C:T
                              Gene:
                              ARMC12 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              15.

                              rs1487718741 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                6:35732176 (GRCh38)
                                6:35699953 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:35732175:G:C,NC_000006.12:35732175:G:T
                                Gene:
                                ARMC12 (Varview), LOC285847 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1487660371 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:35741097 (GRCh38)
                                  6:35708874 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:35741096:G:A
                                  Gene:
                                  ARMC12 (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.

                                  rs1487458538 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    6:35734524 (GRCh38)
                                    6:35702301 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:35734523:C:G
                                    Gene:
                                    ARMC12 (Varview), LOC285847 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1487400190 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      6:35733243 (GRCh38)
                                      6:35701020 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:35733242:C:G
                                      Gene:
                                      ARMC12 (Varview), LOC285847 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1487347150 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:35746561 (GRCh38)
                                        6:35714338 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:35746560:G:A
                                        Gene:
                                        ARMC12 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000014/2 (GnomAD)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486960068 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->T [Show Flanks]
                                          Chromosome:
                                          6:35734326 (GRCh38)
                                          6:35702104 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:35734326:TTTTT:TTTTTT
                                          Gene:
                                          ARMC12 (Varview), LOC285847 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          TTTTTT=0./0 (ALFA)
                                          HGVS:

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