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Items: 1 to 20 of 65628

1.

rs1491557982 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GG>- [Show Flanks]
    Chromosome:
    20:16448903 (GRCh38)
    20:16429548 (GRCh37)
    Canonical SPDI:
    NC_000020.11:16448901:GGG:G
    Gene:
    KIF16B (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    HGVS:
    2.

    rs1491534395 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      20:16529709 (GRCh38)
      20:16510355 (GRCh37)
      Canonical SPDI:
      NC_000020.11:16529709:A:AA
      Gene:
      KIF16B (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AA=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000011/3 (TOPMED)
      HGVS:
      3.

      rs1491520882 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->ATACCT [Show Flanks]
        Chromosome:
        20:16566516 (GRCh38)
        20:16547162 (GRCh37)
        Canonical SPDI:
        NC_000020.11:16566516:TATACCT:TATACCTATACCT
        Gene:
        KIF16B (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TATACCTATACCT=0./0 (ALFA)
        TATACC=0.000007/1 (GnomAD)
        TATACC=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1491514946 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->GTAGGTAC,GTAGGTACATATATATATGTAGGTAC,GTAGGTACATATATATATGTAGGTACATATATATATGTAGGTAC,GTTGGTAC [Show Flanks]
          Chromosome:
          20:16409980 (GRCh38)
          20:16390626 (GRCh37)
          Canonical SPDI:
          NC_000020.11:16409980::GTAGGTAC,NC_000020.11:16409980::GTAGGTACATATATATATGTAGGTAC,NC_000020.11:16409980::GTAGGTACATATATATATGTAGGTACATATATATATGTAGGTAC,NC_000020.11:16409980::GTTGGTAC
          Gene:
          KIF16B (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GTTGGTAC=0./0 (ALFA)
          HGVS:
          5.

          rs1491506617 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TC>- [Show Flanks]
            Chromosome:
            20:16549035 (GRCh38)
            20:16529680 (GRCh37)
            Canonical SPDI:
            NC_000020.11:16549034:TC:
            Gene:
            KIF16B (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.000169/2 (ALFA)
            -=0.000016/2 (GnomAD)
            -=0.000072/19 (TOPMED)
            HGVS:
            6.

            rs1491504885 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->ATGTGTGT [Show Flanks]
              Chromosome:
              20:16445420 (GRCh38)
              20:16426066 (GRCh37)
              Canonical SPDI:
              NC_000020.11:16445420:TGTGTGT:TGTGTGTATGTGTGT
              Gene:
              KIF16B (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TGTGTGTATGTGTGT=0.00084/10 (ALFA)
              TGTGTGTA=0.00828/214 (GnomAD)
              HGVS:
              7.

              rs1491504793 has merged into rs201313385 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GCGC>-,GC,GCGCGC,GCGCGCGC [Show Flanks]
                Chromosome:
                20:16440531 (GRCh38)
                20:16421176 (GRCh37)
                Canonical SPDI:
                NC_000020.11:16440526:GCGCGCGC:GCGC,NC_000020.11:16440526:GCGCGCGC:GCGCGC,NC_000020.11:16440526:GCGCGCGC:GCGCGCGCGC,NC_000020.11:16440526:GCGCGCGC:GCGCGCGCGCGC
                Gene:
                KIF16B (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GCGCGCGCGCGC=0./0 (ALFA)
                -=0.00055/1 (Korea1K)
                -=0.02815/141 (1000Genomes)
                HGVS:
                8.

                rs1491502948 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->C [Show Flanks]
                  Chromosome:
                  20:16359653 (GRCh38)
                  20:16340299 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:16359653:C:CC
                  Gene:
                  KIF16B (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  CC=0./0 (ALFA)
                  C=0.00002/2 (GnomAD)
                  HGVS:
                  9.

                  rs1491500973 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    20:16558897 (GRCh38)
                    20:16539542 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:16558896:CA:
                    Gene:
                    KIF16B (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00008/1 (ALFA)
                    HGVS:
                    10.

                    rs1491495169 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CATA [Show Flanks]
                      Chromosome:
                      20:16442420 (GRCh38)
                      20:16423066 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:16442420:ATA:ATACATA
                      Gene:
                      KIF16B (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ATACATA=0./0 (ALFA)
                      ATAC=0.000004/1 (TOPMED)
                      ATAC=0.000014/1 (GnomAD)
                      HGVS:
                      11.

                      rs1491445028 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CT [Show Flanks]
                        Chromosome:
                        20:16396649 (GRCh38)
                        20:16377295 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:16396649:T:TCT
                        Gene:
                        KIF16B (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TCT=0.00126/15 (ALFA)
                        TC=0.00241/35 (TOMMO)
                        TC=0.00367/263 (GnomAD)
                        HGVS:
                        12.

                        rs1491440809 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->TGTGCA,TGTGTGCA,TGTGTGTGCA,TGTGTGTGTGTGTGCA [Show Flanks]
                          Chromosome:
                          20:16280868 (GRCh38)
                          20:16261514 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:16280868::TGTGCA,NC_000020.11:16280868::TGTGTGCA,NC_000020.11:16280868::TGTGTGTGCA,NC_000020.11:16280868::TGTGTGTGTGTGTGCA
                          Gene:
                          KIF16B (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TGTGTGCA=0.00059/9 (ALFA)
                          HGVS:
                          13.

                          rs1491420170 has merged into rs540602451 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            20:16514593 (GRCh38)
                            20:16495238 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:16514582:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            KIF16B (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAA=0./0 (ALFA)
                            -=0.000023/6 (TOPMED)
                            HGVS:
                            NC_000020.11:g.16514593_16514606del, NC_000020.11:g.16514594_16514606del, NC_000020.11:g.16514595_16514606del, NC_000020.11:g.16514596_16514606del, NC_000020.11:g.16514597_16514606del, NC_000020.11:g.16514598_16514606del, NC_000020.11:g.16514599_16514606del, NC_000020.11:g.16514600_16514606del, NC_000020.11:g.16514601_16514606del, NC_000020.11:g.16514602_16514606del, NC_000020.11:g.16514603_16514606del, NC_000020.11:g.16514604_16514606del, NC_000020.11:g.16514605_16514606del, NC_000020.11:g.16514606del, NC_000020.11:g.16514606dup, NC_000020.11:g.16514605_16514606dup, NC_000020.11:g.16514604_16514606dup, NC_000020.11:g.16514603_16514606dup, NC_000020.11:g.16514602_16514606dup, NC_000020.11:g.16514601_16514606dup, NC_000020.11:g.16514600_16514606dup, NC_000020.11:g.16514599_16514606dup, NC_000020.11:g.16514598_16514606dup, NC_000020.11:g.16514597_16514606dup, NC_000020.11:g.16514596_16514606dup, NC_000020.11:g.16514594_16514606dup, NC_000020.11:g.16514593_16514606dup, NC_000020.11:g.16514589_16514606dup, NC_000020.11:g.16514606_16514607insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.16495238_16495251del, NC_000020.10:g.16495239_16495251del, NC_000020.10:g.16495240_16495251del, NC_000020.10:g.16495241_16495251del, NC_000020.10:g.16495242_16495251del, NC_000020.10:g.16495243_16495251del, NC_000020.10:g.16495244_16495251del, NC_000020.10:g.16495245_16495251del, NC_000020.10:g.16495246_16495251del, NC_000020.10:g.16495247_16495251del, NC_000020.10:g.16495248_16495251del, NC_000020.10:g.16495249_16495251del, NC_000020.10:g.16495250_16495251del, NC_000020.10:g.16495251del, NC_000020.10:g.16495251dup, NC_000020.10:g.16495250_16495251dup, NC_000020.10:g.16495249_16495251dup, NC_000020.10:g.16495248_16495251dup, NC_000020.10:g.16495247_16495251dup, NC_000020.10:g.16495246_16495251dup, NC_000020.10:g.16495245_16495251dup, NC_000020.10:g.16495244_16495251dup, NC_000020.10:g.16495243_16495251dup, NC_000020.10:g.16495242_16495251dup, NC_000020.10:g.16495241_16495251dup, NC_000020.10:g.16495239_16495251dup, NC_000020.10:g.16495238_16495251dup, NC_000020.10:g.16495234_16495251dup, NC_000020.10:g.16495251_16495252insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_028043.2:g.63839_63852del, NG_028043.2:g.63840_63852del, NG_028043.2:g.63841_63852del, NG_028043.2:g.63842_63852del, NG_028043.2:g.63843_63852del, NG_028043.2:g.63844_63852del, NG_028043.2:g.63845_63852del, NG_028043.2:g.63846_63852del, NG_028043.2:g.63847_63852del, NG_028043.2:g.63848_63852del, NG_028043.2:g.63849_63852del, NG_028043.2:g.63850_63852del, NG_028043.2:g.63851_63852del, NG_028043.2:g.63852del, NG_028043.2:g.63852dup, NG_028043.2:g.63851_63852dup, NG_028043.2:g.63850_63852dup, NG_028043.2:g.63849_63852dup, NG_028043.2:g.63848_63852dup, NG_028043.2:g.63847_63852dup, NG_028043.2:g.63846_63852dup, NG_028043.2:g.63845_63852dup, NG_028043.2:g.63844_63852dup, NG_028043.2:g.63843_63852dup, NG_028043.2:g.63842_63852dup, NG_028043.2:g.63840_63852dup, NG_028043.2:g.63839_63852dup, NG_028043.2:g.63835_63852dup, NG_028043.2:g.63852_63853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            14.

                            rs1491411894 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              20:16559790 (GRCh38)
                              20:16540436 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:16559790::T
                              Gene:
                              KIF16B (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1491410556 has merged into rs1273160068 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ATATATATATATAC>-,ATATATATATATACATATATATATATAC [Show Flanks]
                                Chromosome:
                                20:16431877 (GRCh38)
                                20:16412522 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:16431862:ATATATATATATACATATATATATATAC:ATATATATATATAC,NC_000020.11:16431862:ATATATATATATACATATATATATATAC:ATATATATATATACATATATATATATACATATATATATATAC
                                Gene:
                                KIF16B (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                ATATATATATATACATATATATATATACATATATATATATAC=0./0 (ALFA)
                                -=0.000008/2 (TOPMED)
                                HGVS:
                                16.

                                rs1491385684 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  GT>- [Show Flanks]
                                  Chromosome:
                                  20:16480809 (GRCh38)
                                  20:16461454 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:16480808:GT:
                                  Gene:
                                  KIF16B (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0.000071/1 (ALFA)
                                  -=0.000007/1 (GnomAD)
                                  -=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1491337641 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->GA [Show Flanks]
                                    Chromosome:
                                    20:16514583 (GRCh38)
                                    20:16495229 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:16514583:A:AGA
                                    Gene:
                                    KIF16B (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    HGVS:
                                    18.

                                    rs1491317775 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      CA>- [Show Flanks]
                                      Chromosome:
                                      20:16529709 (GRCh38)
                                      20:16510354 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:16529708:CA:
                                      Gene:
                                      KIF16B (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0.000224/1 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000223/1 (Estonian)
                                      HGVS:
                                      19.

                                      rs1491302093 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        AG>- [Show Flanks]
                                        Chromosome:
                                        20:16440526 (GRCh38)
                                        20:16421171 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:16440525:AG:
                                        Gene:
                                        KIF16B (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0.00008/1 (ALFA)
                                        HGVS:
                                        20.

                                        rs1491297640 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CA>- [Show Flanks]
                                          Chromosome:
                                          20:16359654 (GRCh38)
                                          20:16340299 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:16359652:ACA:A
                                          Gene:
                                          KIF16B (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.00126/15 (ALFA)
                                          HGVS:

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