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Items: 1 to 20 of 4770

1.

rs1491507765 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    1:108449416 (GRCh38)
    1:108992038 (GRCh37)
    Canonical SPDI:
    NC_000001.11:108449415:CT:
    Gene:
    NBPF6 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.00364/34 (GnomAD)
    HGVS:
    2.

    rs1491425526 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->TGT [Show Flanks]
      Chromosome:
      1:108470290 (GRCh38)
      1:109012913 (GRCh37)
      Canonical SPDI:
      NC_000001.11:108470290::TGT
      Gene:
      NBPF6 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency
      MAF:
      TGT=0.000159/17 (GnomAD)
      HGVS:
      3.

      rs1491425424 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        1:108436592 (GRCh38)
        1:108979214 (GRCh37)
        Canonical SPDI:
        NC_000001.11:108436591:CA:
        Gene:
        NBPF6 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.01332/158 (ALFA)
        -=0.00133/12 (TOMMO)
        HGVS:
        4.

        rs1491315269 has merged into rs1165819915 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ATATATATATATATATATATATATATATATATAT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
          Chromosome:
          1:108449428 (GRCh38)
          1:108992050 (GRCh37)
          Canonical SPDI:
          NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:108449416:TATATATATATATATATATATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATATATATATATATAT
          Gene:
          NBPF6 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATATATATATATAT=0./0 (ALFA)
          TATATATATATATATATATATATATA=0.4808/901 (TOMMO)
          HGVS:
          NC_000001.11:g.108449418AT[5], NC_000001.11:g.108449418AT[7], NC_000001.11:g.108449418AT[8], NC_000001.11:g.108449418AT[9], NC_000001.11:g.108449418AT[10], NC_000001.11:g.108449418AT[11], NC_000001.11:g.108449418AT[12], NC_000001.11:g.108449418AT[13], NC_000001.11:g.108449418AT[14], NC_000001.11:g.108449418AT[15], NC_000001.11:g.108449418AT[16], NC_000001.11:g.108449418AT[17], NC_000001.11:g.108449418AT[18], NC_000001.11:g.108449418AT[19], NC_000001.11:g.108449418AT[20], NC_000001.11:g.108449418AT[21], NC_000001.11:g.108449418AT[23], NC_000001.11:g.108449418AT[24], NC_000001.11:g.108449418AT[25], NC_000001.11:g.108449418AT[26], NC_000001.10:g.108992040AT[5], NC_000001.10:g.108992040AT[7], NC_000001.10:g.108992040AT[8], NC_000001.10:g.108992040AT[9], NC_000001.10:g.108992040AT[10], NC_000001.10:g.108992040AT[11], NC_000001.10:g.108992040AT[12], NC_000001.10:g.108992040AT[13], NC_000001.10:g.108992040AT[14], NC_000001.10:g.108992040AT[15], NC_000001.10:g.108992040AT[16], NC_000001.10:g.108992040AT[17], NC_000001.10:g.108992040AT[18], NC_000001.10:g.108992040AT[19], NC_000001.10:g.108992040AT[20], NC_000001.10:g.108992040AT[21], NC_000001.10:g.108992040AT[23], NC_000001.10:g.108992040AT[24], NC_000001.10:g.108992040AT[25], NC_000001.10:g.108992040AT[26], NW_017852928.1:g.256985_256986insATA, NW_017852928.1:g.256956_256986del, NW_017852928.1:g.256960_256986del, NW_017852928.1:g.256962_256986del, NW_017852928.1:g.256964_256986del, NW_017852928.1:g.256966_256986del, NW_017852928.1:g.256968_256986del, NW_017852928.1:g.256970_256986del, NW_017852928.1:g.256972_256986del, NW_017852928.1:g.256974_256986del, NW_017852928.1:g.256976_256986del, NW_017852928.1:g.256978_256986del, NW_017852928.1:g.256980_256986del, NW_017852928.1:g.256982_256986del, NW_017852928.1:g.256984_256986del, NW_017852928.1:g.256987del, NW_017852928.1:g.256985_256986insA, NW_017852928.1:g.256985_256986insATATA, NW_017852928.1:g.256985_256986insATATATA, NW_017852928.1:g.256985_256986insATATATATA, NW_017852928.1:g.256985_256986insATATATATATA
          5.

          rs1491269339 has merged into rs1179619304 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
            Chromosome:
            1:108453016 (GRCh38)
            1:108995638 (GRCh37)
            Canonical SPDI:
            NC_000001.11:108453008:TATATATATATATAT:TATATAT,NC_000001.11:108453008:TATATATATATATAT:TATATATAT,NC_000001.11:108453008:TATATATATATATAT:TATATATATAT,NC_000001.11:108453008:TATATATATATATAT:TATATATATATAT,NC_000001.11:108453008:TATATATATATATAT:TATATATATATATATAT,NC_000001.11:108453008:TATATATATATATAT:TATATATATATATATATAT
            Gene:
            NBPF6 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TATATATAT=0./0 (ALFA)
            TA=0.00781/3 (NorthernSweden)
            HGVS:
            6.

            rs1491237836 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->GC [Show Flanks]
              Chromosome:
              1:108453009 (GRCh38)
              1:108995632 (GRCh37)
              Canonical SPDI:
              NC_000001.11:108453009::GC
              Gene:
              NBPF6 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              GC=0./0 (ALFA)
              GC=0.00037/20 (GnomAD)
              HGVS:
              7.

              rs1491229731 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->C,CC [Show Flanks]
                Chromosome:
                1:108449417 (GRCh38)
                1:108992040 (GRCh37)
                Canonical SPDI:
                NC_000001.11:108449417::C,NC_000001.11:108449417::CC
                Gene:
                NBPF6 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                CC=0./0 (ALFA)
                HGVS:
                8.

                rs1491203147 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->CA,CATA [Show Flanks]
                  Chromosome:
                  1:108449416 (GRCh38)
                  1:108992039 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:108449416::CA,NC_000001.11:108449416::CATA
                  Gene:
                  NBPF6 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  CATA=0./0 (ALFA)
                  CA=0.00034/3 (GnomAD)
                  HGVS:
                  9.

                  rs1491176134 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AA>- [Show Flanks]
                    Chromosome:
                    1:108470292 (GRCh38)
                    1:109012914 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:108470289:AAAA:AA
                    Gene:
                    NBPF6 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    AAAA=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491140096 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TC>- [Show Flanks]
                      Chromosome:
                      1:108470587 (GRCh38)
                      1:109013209 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:108470578:TCTCTCTCTC:TCTCTCTC
                      Gene:
                      NBPF6 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TCTCTCTC=0.000043/1 (ALFA)
                      -=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1491108983 has merged into rs1184109662 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        1:108436603 (GRCh38)
                        1:108979225 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:108436592:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        NBPF6 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAA=0./0 (ALFA)
                        HGVS:
                        NC_000001.11:g.108436603_108436613del, NC_000001.11:g.108436605_108436613del, NC_000001.11:g.108436606_108436613del, NC_000001.11:g.108436607_108436613del, NC_000001.11:g.108436608_108436613del, NC_000001.11:g.108436609_108436613del, NC_000001.11:g.108436611_108436613del, NC_000001.11:g.108436612_108436613del, NC_000001.11:g.108436613del, NC_000001.11:g.108436613dup, NC_000001.11:g.108436611_108436613dup, NC_000001.11:g.108436610_108436613dup, NC_000001.11:g.108436609_108436613dup, NC_000001.11:g.108436605_108436613dup, NC_000001.11:g.108436604_108436613dup, NC_000001.11:g.108436596_108436613dup, NC_000001.10:g.108979225_108979235del, NC_000001.10:g.108979227_108979235del, NC_000001.10:g.108979228_108979235del, NC_000001.10:g.108979229_108979235del, NC_000001.10:g.108979230_108979235del, NC_000001.10:g.108979231_108979235del, NC_000001.10:g.108979233_108979235del, NC_000001.10:g.108979234_108979235del, NC_000001.10:g.108979235del, NC_000001.10:g.108979235dup, NC_000001.10:g.108979233_108979235dup, NC_000001.10:g.108979232_108979235dup, NC_000001.10:g.108979231_108979235dup, NC_000001.10:g.108979227_108979235dup, NC_000001.10:g.108979226_108979235dup, NC_000001.10:g.108979218_108979235dup, NW_017852928.1:g.269793_269803del, NW_017852928.1:g.269795_269803del, NW_017852928.1:g.269796_269803del, NW_017852928.1:g.269797_269803del, NW_017852928.1:g.269798_269803del, NW_017852928.1:g.269799_269803del, NW_017852928.1:g.269801_269803del, NW_017852928.1:g.269802_269803del, NW_017852928.1:g.269803del, NW_017852928.1:g.269803dup, NW_017852928.1:g.269801_269803dup, NW_017852928.1:g.269800_269803dup, NW_017852928.1:g.269799_269803dup, NW_017852928.1:g.269795_269803dup, NW_017852928.1:g.269794_269803dup, NW_017852928.1:g.269786_269803dup
                        12.

                        rs1490897093 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->ATAT,ATATATGTAT [Show Flanks]
                          Chromosome:
                          1:108452978 (GRCh38)
                          1:108995601 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:108452978:T:TATAT,NC_000001.11:108452978:T:TATATATGTAT
                          Gene:
                          NBPF6 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TATATATGTAT=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1490740043 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CTT>- [Show Flanks]
                            Chromosome:
                            1:108452502 (GRCh38)
                            1:108995124 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:108452497:TCTTCTT:TCTT
                            Gene:
                            NBPF6 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TCTT=0.00135/16 (ALFA)
                            -=0.00125/8 (1000Genomes)
                            -=0.00153/81 (GnomAD)
                            HGVS:
                            14.

                            rs1490656967 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:108469318 (GRCh38)
                              1:109011940 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:108469317:C:T
                              Gene:
                              NBPF6 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490632648 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:108436962 (GRCh38)
                                1:108979584 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:108436961:G:A
                                Gene:
                                NBPF6 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490597705 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  1:108438281 (GRCh38)
                                  1:108980903 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:108438280:C:A
                                  Gene:
                                  NBPF6 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.00003/8 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490583574 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:108458559 (GRCh38)
                                    1:109001181 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:108458558:A:G
                                    Gene:
                                    NBPF6 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.00143/17 (ALFA)
                                    G=0.00116/90 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490407337 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:108452515 (GRCh38)
                                      1:108995137 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:108452514:A:G
                                      Gene:
                                      NBPF6 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1490248311 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        1:108451120 (GRCh38)
                                        1:108993742 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:108451119:T:A,NC_000001.11:108451119:T:C
                                        Gene:
                                        NBPF6 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.00005/2 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490222599 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:108469870 (GRCh38)
                                          1:109012492 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:108469869:A:G
                                          Gene:
                                          NBPF6 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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