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Items: 1 to 20 of 1000

1.

rs1491566378 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    11:43379458 (GRCh38)
    11:43401008 (GRCh37)
    Canonical SPDI:
    NC_000011.10:43379457:AT:
    Gene:
    TTC17 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.000108/2 (ALFA)
    -=0.00006/8 (GnomAD)
    HGVS:
    2.

    rs1491426051 has merged into rs35337370 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTT>-,TTT,TTTTTTT [Show Flanks]
      Chromosome:
      11:43379482 (GRCh38)
      11:43401032 (GRCh37)
      Canonical SPDI:
      NC_000011.10:43379480:TTTTTT:T,NC_000011.10:43379480:TTTTTT:TTTT,NC_000011.10:43379480:TTTTTT:TTTTTTTT
      Gene:
      TTC17 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTT=0./0 (ALFA)
      TT=0.000004/1 (TOPMED)
      -=0.000036/5 (GnomAD)
      HGVS:
      3.

      rs1491425451 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        11:43374765 (GRCh38)
        11:43396316 (GRCh37)
        Canonical SPDI:
        NC_000011.10:43374765::C
        Gene:
        TTC17 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        4.

        rs1491405362 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TT>-,T,TTTT [Show Flanks]
          Chromosome:
          11:43362149 (GRCh38)
          11:43383699 (GRCh37)
          Canonical SPDI:
          NC_000011.10:43362147:TTT:T,NC_000011.10:43362147:TTT:TT,NC_000011.10:43362147:TTT:TTTTT
          Gene:
          TTC17 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.00001/1 (GnomAD)
          HGVS:
          5.

          rs1491249283 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            11:43397956 (GRCh38)
            11:43419506 (GRCh37)
            Canonical SPDI:
            NC_000011.10:43397954:TTT:T
            Gene:
            TTC17 (Varview)
            Functional Consequence:
            intron_variant
            HGVS:
            6.

            rs1491138768 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AA>- [Show Flanks]
              Chromosome:
              11:43456179 (GRCh38)
              11:43477729 (GRCh37)
              Canonical SPDI:
              NC_000011.10:43456178:AA:
              Gene:
              TTC17 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000018/2 (GnomAD)
              HGVS:
              7.

              rs1491119455 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->AT [Show Flanks]
                Chromosome:
                11:43362148 (GRCh38)
                11:43383699 (GRCh37)
                Canonical SPDI:
                NC_000011.10:43362148:T:TAT
                Gene:
                TTC17 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by cluster
                MAF:
                TA=0./0 (GnomAD)
                TA=0.00031/2 (1000Genomes)
                HGVS:
                8.

                rs1491040455 has merged into rs140936007 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  11:43472853 (GRCh38)
                  11:43494403 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:43472841:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  TTC17 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAA=0./0 (ALFA)
                  -=0.0559/280 (1000Genomes)
                  A=0.25/2 (KOREAN)
                  A=0.35/14 (GENOME_DK)
                  HGVS:
                  9.

                  rs1491018145 has merged into rs10638143 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CACACACACACACACACACACACACA>-,CA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
                    Chromosome:
                    11:43444734 (GRCh38)
                    11:43466284 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:43444722:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
                    Gene:
                    TTC17 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ACACACACACACA=0./0 (ALFA)
                    -=0.375/3 (KOREAN)
                    AC=0.4986/2497 (1000Genomes)
                    HGVS:
                    NC_000011.10:g.43444724CA[5], NC_000011.10:g.43444724CA[6], NC_000011.10:g.43444724CA[8], NC_000011.10:g.43444724CA[9], NC_000011.10:g.43444724CA[10], NC_000011.10:g.43444724CA[11], NC_000011.10:g.43444724CA[12], NC_000011.10:g.43444724CA[13], NC_000011.10:g.43444724CA[14], NC_000011.10:g.43444724CA[15], NC_000011.10:g.43444724CA[16], NC_000011.10:g.43444724CA[17], NC_000011.10:g.43444724CA[19], NC_000011.10:g.43444724CA[20], NC_000011.10:g.43444724CA[21], NC_000011.10:g.43444724CA[22], NC_000011.10:g.43444724CA[23], NC_000011.10:g.43444724CA[24], NC_000011.10:g.43444724CA[25], NC_000011.10:g.43444724CA[26], NC_000011.10:g.43444724CA[27], NC_000011.10:g.43444724CA[30], NC_000011.9:g.43466274CA[5], NC_000011.9:g.43466274CA[6], NC_000011.9:g.43466274CA[8], NC_000011.9:g.43466274CA[9], NC_000011.9:g.43466274CA[10], NC_000011.9:g.43466274CA[11], NC_000011.9:g.43466274CA[12], NC_000011.9:g.43466274CA[13], NC_000011.9:g.43466274CA[14], NC_000011.9:g.43466274CA[15], NC_000011.9:g.43466274CA[16], NC_000011.9:g.43466274CA[17], NC_000011.9:g.43466274CA[19], NC_000011.9:g.43466274CA[20], NC_000011.9:g.43466274CA[21], NC_000011.9:g.43466274CA[22], NC_000011.9:g.43466274CA[23], NC_000011.9:g.43466274CA[24], NC_000011.9:g.43466274CA[25], NC_000011.9:g.43466274CA[26], NC_000011.9:g.43466274CA[27], NC_000011.9:g.43466274CA[30]
                    10.

                    rs1491000734 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      11:43408240 (GRCh38)
                      11:43429790 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:43408239:G:T
                      Gene:
                      TTC17 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000015/4 (TOPMED)
                      HGVS:
                      11.

                      rs1490997358 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        11:43478615 (GRCh38)
                        11:43500165 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:43478614:T:C,NC_000011.10:43478614:T:G
                        Gene:
                        TTC17 (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1490832551 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:43376661 (GRCh38)
                          11:43398211 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:43376660:T:C
                          Gene:
                          TTC17 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000011/3 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1490830099 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            11:43431946 (GRCh38)
                            11:43453496 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:43431945:G:C
                            Gene:
                            TTC17 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490812890 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:43362728 (GRCh38)
                              11:43384278 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:43362727:G:A
                              Gene:
                              TTC17 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490775810 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:43485282 (GRCh38)
                                11:43506832 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:43485281:A:G
                                Gene:
                                TTC17 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490763175 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  11:43430860 (GRCh38)
                                  11:43452410 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:43430859:A:G
                                  Gene:
                                  TTC17 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490752303 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    11:43450501 (GRCh38)
                                    11:43472051 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:43450500:A:G
                                    Gene:
                                    TTC17 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000011/3 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490743280 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAATA>- [Show Flanks]
                                      Chromosome:
                                      11:43485622 (GRCh38)
                                      11:43507172 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:43485617:AATAAAATA:AATA
                                      Gene:
                                      TTC17 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AATA=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000011/3 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490741076 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        11:43362071 (GRCh38)
                                        11:43383621 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:43362070:C:G
                                        Gene:
                                        TTC17 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490719646 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          11:43470714 (GRCh38)
                                          11:43492264 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:43470713:A:T
                                          Gene:
                                          TTC17 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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