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Items: 1 to 20 of 1000

1.

rs1491556088 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    10:22376635 (GRCh38)
    10:22665564 (GRCh37)
    Canonical SPDI:
    NC_000010.11:22376634:AT:
    Gene:
    SPAG6 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0./0 (ALSPAC)
    -=0.000057/8 (GnomAD)
    -=0.00027/1 (TWINSUK)
    HGVS:
    2.

    rs1491381117 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->TCTTC,TCTTCTTC,TCTTCTTCTTC,TCTTCTTCTTCTTC,TCTTCTTCTTCTTCTTC,TCTTCTTCTTCTTCTTCTTC [Show Flanks]
      Chromosome:
      10:22346499 (GRCh38)
      10:22635429 (GRCh37)
      Canonical SPDI:
      NC_000010.11:22346499::TCTTC,NC_000010.11:22346499::TCTTCTTC,NC_000010.11:22346499::TCTTCTTCTTC,NC_000010.11:22346499::TCTTCTTCTTCTTC,NC_000010.11:22346499::TCTTCTTCTTCTTCTTC,NC_000010.11:22346499::TCTTCTTCTTCTTCTTCTTC
      Gene:
      SPAG6 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by cluster
      MAF:
      TCTTCTTCTTCTTC=0.00004/1 (TOMMO)
      HGVS:
      3.

      rs1491310263 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CTCTTC [Show Flanks]
        Chromosome:
        10:22346437 (GRCh38)
        10:22635367 (GRCh37)
        Canonical SPDI:
        NC_000010.11:22346437:TCTTC:TCTTCCTCTTC
        Gene:
        SPAG6 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TCTTCCTCTTC=0./0 (ALFA)
        TCTTCC=0.000019/2 (GnomAD)
        HGVS:
        4.

        rs1491293007 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TT>- [Show Flanks]
          Chromosome:
          10:22346437 (GRCh38)
          10:22635366 (GRCh37)
          Canonical SPDI:
          NC_000010.11:22346436:TT:
          Gene:
          SPAG6 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          -=0.000536/56 (GnomAD)
          HGVS:
          5.

          rs1491233185 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CT>- [Show Flanks]
            Chromosome:
            10:22346500 (GRCh38)
            10:22635429 (GRCh37)
            Canonical SPDI:
            NC_000010.11:22346498:TCT:T
            Gene:
            SPAG6 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            6.

            rs1491001003 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              10:22361581 (GRCh38)
              10:22650510 (GRCh37)
              Canonical SPDI:
              NC_000010.11:22361580:A:G
              Gene:
              SPAG6 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              7.

              rs1490961782 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                10:22378391 (GRCh38)
                10:22667320 (GRCh37)
                Canonical SPDI:
                NC_000010.11:22378390:A:G
                Gene:
                SPAG6 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000224/1 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000223/1 (Estonian)
                HGVS:
                8.

                rs1490951744 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CTTCTTCTTCTTCTTCTTCT>- [Show Flanks]
                  Chromosome:
                  10:22346472 (GRCh38)
                  10:22635401 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:22346470:TCTTCTTCTTCTTCTTCTTCT:T
                  Gene:
                  SPAG6 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  -=0.000008/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490862555 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    10:22362448 (GRCh38)
                    10:22651377 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:22362447:A:G
                    Gene:
                    SPAG6 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000011/3 (TOPMED)
                    G=0.000014/2 (GnomAD)
                    G=0.000156/1 (1000Genomes)
                    HGVS:
                    10.

                    rs1490850306 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      10:22378965 (GRCh38)
                      10:22667894 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:22378964:A:C
                      Gene:
                      SPAG6 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000014/2 (GnomAD)
                      C=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1490758187 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        10:22358112 (GRCh38)
                        10:22647041 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:22358111:G:A
                        Gene:
                        SPAG6 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000019/5 (TOPMED)
                        A=0.000156/1 (1000Genomes)
                        A=0.000814/14 (TOMMO)
                        A=0.001369/4 (KOREAN)
                        A=0.002183/4 (Korea1K)
                        HGVS:
                        12.

                        rs1490739982 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C,T [Show Flanks]
                          Chromosome:
                          10:22405779 (GRCh38)
                          10:22694708 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:22405778:G:C,NC_000010.11:22405778:G:T
                          Gene:
                          SPAG6 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490730469 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:22345705 (GRCh38)
                            10:22634634 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:22345704:C:T
                            Gene:
                            SPAG6 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            14.

                            rs1490694100 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              10:22404894 (GRCh38)
                              10:22693823 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:22404893:T:G
                              Gene:
                              SPAG6 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1490644638 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                10:22387930 (GRCh38)
                                10:22676859 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:22387929:C:T
                                Gene:
                                SPAG6 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1490641060 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  10:22400108 (GRCh38)
                                  10:22689037 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:22400107:A:G
                                  Gene:
                                  SPAG6 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000447/2 (ALFA)
                                  G=0.000014/2 (GnomAD)
                                  G=0.000446/2 (Estonian)
                                  HGVS:
                                  17.

                                  rs1490599803 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    10:22355495 (GRCh38)
                                    10:22644424 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:22355494:T:C,NC_000010.11:22355494:T:G
                                    Gene:
                                    SPAG6 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    C=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490538906 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CAGAGTAAGTGA>- [Show Flanks]
                                      Chromosome:
                                      10:22361667 (GRCh38)
                                      10:22650596 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:22361662:GTGACAGAGTAAGTGA:GTGA
                                      Gene:
                                      SPAG6 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GTGA=0.000071/1 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000023/6 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490506568 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        10:22397856 (GRCh38)
                                        10:22686785 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:22397855:A:G
                                        Gene:
                                        SPAG6 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000019/5 (TOPMED)
                                        G=0.000029/4 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490386754 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          10:22416316 (GRCh38)
                                          10:22705245 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:22416315:G:C
                                          Gene:
                                          SPAG6 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:

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