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Items: 1 to 20 of 2085

1.

rs1491513099 has merged into rs533115992 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    16:57811929 (GRCh38)
    16:57845841 (GRCh37)
    Canonical SPDI:
    NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57811918:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    KIFC3 (Varview), LOC388282 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAA=0./0 (ALFA)
    AA=0.1587/795 (1000Genomes)
    HGVS:
    NC_000016.10:g.57811929_57811936del, NC_000016.10:g.57811930_57811936del, NC_000016.10:g.57811931_57811936del, NC_000016.10:g.57811932_57811936del, NC_000016.10:g.57811933_57811936del, NC_000016.10:g.57811934_57811936del, NC_000016.10:g.57811935_57811936del, NC_000016.10:g.57811936del, NC_000016.10:g.57811936dup, NC_000016.10:g.57811935_57811936dup, NC_000016.10:g.57811934_57811936dup, NC_000016.10:g.57811930_57811936dup, NC_000016.9:g.57845841_57845848del, NC_000016.9:g.57845842_57845848del, NC_000016.9:g.57845843_57845848del, NC_000016.9:g.57845844_57845848del, NC_000016.9:g.57845845_57845848del, NC_000016.9:g.57845846_57845848del, NC_000016.9:g.57845847_57845848del, NC_000016.9:g.57845848del, NC_000016.9:g.57845848dup, NC_000016.9:g.57845847_57845848dup, NC_000016.9:g.57845846_57845848dup, NC_000016.9:g.57845842_57845848dup, NW_003871085.1:g.71820_71827del, NW_003871085.1:g.71821_71827del, NW_003871085.1:g.71822_71827del, NW_003871085.1:g.71823_71827del, NW_003871085.1:g.71824_71827del, NW_003871085.1:g.71825_71827del, NW_003871085.1:g.71826_71827del, NW_003871085.1:g.71827del, NW_003871085.1:g.71827dup, NW_003871085.1:g.71826_71827dup, NW_003871085.1:g.71825_71827dup, NW_003871085.1:g.71821_71827dup
    2.

    rs1491385011 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      16:57811918 (GRCh38)
      16:57845830 (GRCh37)
      Canonical SPDI:
      NC_000016.10:57811917:CA:
      Gene:
      KIFC3 (Varview), LOC388282 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.05985/710 (ALFA)
      -=0.00092/15 (TOMMO)
      HGVS:
      3.

      rs1491136028 has merged into rs374744837 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AGAG>-,AG,AGAGAG [Show Flanks]
        Chromosome:
        16:57808593 (GRCh38)
        16:57842505 (GRCh37)
        Canonical SPDI:
        NC_000016.10:57808586:AGAGAGAGAG:AGAGAG,NC_000016.10:57808586:AGAGAGAGAG:AGAGAGAG,NC_000016.10:57808586:AGAGAGAGAG:AGAGAGAGAGAG
        Gene:
        KIFC3 (Varview), LOC388282 (Varview)
        Functional Consequence:
        2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AGAGAGAG=0./0 (ALFA)
        -=0.000035/1 (TOMMO)
        -=0.0002/53 (TOPMED)
        -=0.003195/16 (1000Genomes)
        HGVS:
        4.

        rs1491082928 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->AC [Show Flanks]
          Chromosome:
          16:57807958 (GRCh38)
          16:57841871 (GRCh37)
          Canonical SPDI:
          NC_000016.10:57807958:AC:ACAC
          Gene:
          KIFC3 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          ACAC=0./0 (ALFA)
          AC=0.00017/23 (GnomAD)
          HGVS:
          5.

          rs1490855206 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            16:57811669 (GRCh38)
            16:57845581 (GRCh37)
            Canonical SPDI:
            NC_000016.10:57811668:A:G
            Gene:
            KIFC3 (Varview), LOC388282 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1490309280 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:57812738 (GRCh38)
              16:57846650 (GRCh37)
              Canonical SPDI:
              NC_000016.10:57812737:C:T
              Gene:
              KIFC3 (Varview), LOC388282 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1490283803 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:57813551 (GRCh38)
                16:57847463 (GRCh37)
                Canonical SPDI:
                NC_000016.10:57813550:G:A
                Gene:
                KIFC3 (Varview), LOC388282 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489823851 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  16:57813158 (GRCh38)
                  16:57847070 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:57813157:T:A,NC_000016.10:57813157:T:C
                  Gene:
                  KIFC3 (Varview), LOC388282 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489797437 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    16:57814022 (GRCh38)
                    16:57847926 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:57814021:A:G
                    Gene:
                    KIFC3 (Varview), LOC388282 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1488869944 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      16:57813475 (GRCh38)
                      16:57847387 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:57813474:C:T
                      Gene:
                      KIFC3 (Varview), LOC388282 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1488634783 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        16:57811023 (GRCh38)
                        16:57844935 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:57811022:G:T
                        Gene:
                        KIFC3 (Varview), LOC388282 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        12.

                        rs1487837233 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          16:57814913 (GRCh38)
                          16:57848817 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:57814912:T:C
                          Gene:
                          KIFC3 (Varview), LOC388282 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000008/1 (GnomAD)
                          C=0.000026/7 (TOPMED)
                          HGVS:
                          13.

                          rs1487456528 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:57807763 (GRCh38)
                            16:57841675 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:57807762:C:T
                            Gene:
                            KIFC3 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1487328332 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              16:57808501 (GRCh38)
                              16:57842413 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:57808500:C:T
                              Gene:
                              KIFC3 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000015/4 (TOPMED)
                              T=0.000043/6 (GnomAD)
                              HGVS:
                              15.

                              rs1486676765 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                G>- [Show Flanks]
                                Chromosome:
                                16:57811937 (GRCh38)
                                16:57845849 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:57811936:G:
                                Gene:
                                KIFC3 (Varview), LOC388282 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1486345431 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  16:57808989 (GRCh38)
                                  16:57842901 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:57808988:T:C
                                  Gene:
                                  KIFC3 (Varview), LOC388282 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000026/7 (TOPMED)
                                  C=0.000029/4 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1485318745 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    16:57815932 (GRCh38)
                                    16:57849836 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:57815931:T:C,NC_000016.10:57815931:T:G
                                    Gene:
                                    KIFC3 (Varview), LOC388282 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000029/4 (GnomAD)
                                    G=0.000034/9 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1484943534 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->T [Show Flanks]
                                      Chromosome:
                                      16:57809686 (GRCh38)
                                      16:57843599 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:57809686:T:TT
                                      Gene:
                                      KIFC3 (Varview), LOC388282 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      TT=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1484796147 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        16:57817150 (GRCh38)
                                        16:57851054 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:57817149:G:C
                                        Gene:
                                        KIFC3 (Varview), LOC388282 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484510161 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AGATGTAAATTG>- [Show Flanks]
                                          Chromosome:
                                          16:57808861 (GRCh38)
                                          16:57842773 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:57808858:TGAGATGTAAATTG:TG
                                          Gene:
                                          KIFC3 (Varview), LOC388282 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TG=0./0 (ALFA)
                                          -=0.000023/6 (TOPMED)
                                          -=0.000057/8 (GnomAD)
                                          HGVS:

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