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Items: 1 to 20 of 5893

1.

rs1491385044 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GT>- [Show Flanks]
    Chromosome:
    8:27251286 (GRCh38)
    8:27108803 (GRCh37)
    Canonical SPDI:
    NC_000008.11:27251285:GT:
    Gene:
    STMN4 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.00002/2 (GnomAD)
    -=0.000035/1 (TOMMO)
    HGVS:
    2.

    rs1491215901 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      8:27259483 (GRCh38)
      8:27117001 (GRCh37)
      Canonical SPDI:
      NC_000008.11:27259483:T:TT
      Gene:
      STMN4 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      TT=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      HGVS:
      3.

      rs1491059771 has merged into rs150260843 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        8:27247264 (GRCh38)
        8:27104781 (GRCh37)
        Canonical SPDI:
        NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:27247254:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        STMN4 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000008.11:g.27247264_27247273del, NC_000008.11:g.27247266_27247273del, NC_000008.11:g.27247268_27247273del, NC_000008.11:g.27247269_27247273del, NC_000008.11:g.27247270_27247273del, NC_000008.11:g.27247271_27247273del, NC_000008.11:g.27247272_27247273del, NC_000008.11:g.27247273del, NC_000008.11:g.27247273dup, NC_000008.11:g.27247272_27247273dup, NC_000008.11:g.27247271_27247273dup, NC_000008.11:g.27247270_27247273dup, NC_000008.11:g.27247269_27247273dup, NC_000008.11:g.27247268_27247273dup, NC_000008.10:g.27104781_27104790del, NC_000008.10:g.27104783_27104790del, NC_000008.10:g.27104785_27104790del, NC_000008.10:g.27104786_27104790del, NC_000008.10:g.27104787_27104790del, NC_000008.10:g.27104788_27104790del, NC_000008.10:g.27104789_27104790del, NC_000008.10:g.27104790del, NC_000008.10:g.27104790dup, NC_000008.10:g.27104789_27104790dup, NC_000008.10:g.27104788_27104790dup, NC_000008.10:g.27104787_27104790dup, NC_000008.10:g.27104786_27104790dup, NC_000008.10:g.27104785_27104790dup
        4.

        rs1490969317 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          8:27248276 (GRCh38)
          8:27105793 (GRCh37)
          Canonical SPDI:
          NC_000008.11:27248275:T:C
          Gene:
          STMN4 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490750590 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            8:27240321 (GRCh38)
            8:27097838 (GRCh37)
            Canonical SPDI:
            NC_000008.11:27240320:C:T
            Gene:
            STMN4 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1490736885 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              8:27238330 (GRCh38)
              8:27095847 (GRCh37)
              Canonical SPDI:
              NC_000008.11:27238329:C:T
              Gene:
              STMN4 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490605462 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                8:27255860 (GRCh38)
                8:27113377 (GRCh37)
                Canonical SPDI:
                NC_000008.11:27255859:C:T
                Gene:
                STMN4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1490601580 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  8:27235331 (GRCh38)
                  8:27092848 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:27235330:T:C
                  Gene:
                  STMN4 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490587487 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->T [Show Flanks]
                    Chromosome:
                    8:27240802 (GRCh38)
                    8:27098320 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:27240802:T:TT
                    Gene:
                    STMN4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    TT=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490362063 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      8:27249327 (GRCh38)
                      8:27106844 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:27249326:C:T
                      Gene:
                      STMN4 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490301714 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        8:27237129 (GRCh38)
                        8:27094646 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:27237128:G:A,NC_000008.11:27237128:G:T
                        Gene:
                        STMN4 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1489992476 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          8:27249206 (GRCh38)
                          8:27106723 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:27249205:C:A,NC_000008.11:27249205:C:T
                          Gene:
                          STMN4 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.00007/1 (TOMMO)
                          HGVS:
                          13.

                          rs1489777458 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:27256339 (GRCh38)
                            8:27113856 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:27256338:G:A
                            Gene:
                            STMN4 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000011/3 (TOPMED)
                            A=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1489693283 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              8:27246424 (GRCh38)
                              8:27103941 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:27246423:C:T
                              Gene:
                              STMN4 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1489595130 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                8:27257723 (GRCh38)
                                8:27115240 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:27257722:G:A
                                Gene:
                                STMN4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1489573954 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:27236849 (GRCh38)
                                  8:27094366 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:27236848:C:T
                                  Gene:
                                  STMN4 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  17.

                                  rs1489543854 has merged into rs59516183 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CACACACACACACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
                                    Chromosome:
                                    8:27257473 (GRCh38)
                                    8:27114990 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000008.11:27257459:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
                                    Gene:
                                    STMN4 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    ACACACACACACACACA=0./0 (ALFA)
                                    ACACACACACAC=0.5/20 (GENOME_DK)
                                    HGVS:
                                    NC_000008.11:g.27257461CA[6], NC_000008.11:g.27257461CA[8], NC_000008.11:g.27257461CA[9], NC_000008.11:g.27257461CA[10], NC_000008.11:g.27257461CA[11], NC_000008.11:g.27257461CA[12], NC_000008.11:g.27257461CA[13], NC_000008.11:g.27257461CA[14], NC_000008.11:g.27257461CA[15], NC_000008.11:g.27257461CA[16], NC_000008.11:g.27257461CA[17], NC_000008.11:g.27257461CA[18], NC_000008.11:g.27257461CA[19], NC_000008.11:g.27257461CA[20], NC_000008.11:g.27257461CA[22], NC_000008.11:g.27257461CA[23], NC_000008.11:g.27257461CA[24], NC_000008.11:g.27257461CA[25], NC_000008.11:g.27257461CA[26], NC_000008.11:g.27257461CA[27], NC_000008.11:g.27257461CA[28], NC_000008.11:g.27257461CA[29], NC_000008.10:g.27114978CA[6], NC_000008.10:g.27114978CA[8], NC_000008.10:g.27114978CA[9], NC_000008.10:g.27114978CA[10], NC_000008.10:g.27114978CA[11], NC_000008.10:g.27114978CA[12], NC_000008.10:g.27114978CA[13], NC_000008.10:g.27114978CA[14], NC_000008.10:g.27114978CA[15], NC_000008.10:g.27114978CA[16], NC_000008.10:g.27114978CA[17], NC_000008.10:g.27114978CA[18], NC_000008.10:g.27114978CA[19], NC_000008.10:g.27114978CA[20], NC_000008.10:g.27114978CA[22], NC_000008.10:g.27114978CA[23], NC_000008.10:g.27114978CA[24], NC_000008.10:g.27114978CA[25], NC_000008.10:g.27114978CA[26], NC_000008.10:g.27114978CA[27], NC_000008.10:g.27114978CA[28], NC_000008.10:g.27114978CA[29]
                                    18.

                                    rs1489403243 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAA>- [Show Flanks]
                                      Chromosome:
                                      8:27243408 (GRCh38)
                                      8:27100925 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:27243405:AAAAA:AA
                                      Gene:
                                      STMN4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      AA=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489340349 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        8:27247035 (GRCh38)
                                        8:27104552 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:27247034:C:G,NC_000008.11:27247034:C:T
                                        Gene:
                                        STMN4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489280306 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          8:27254073 (GRCh38)
                                          8:27111590 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:27254072:G:A,NC_000008.11:27254072:G:C
                                          Gene:
                                          STMN4 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          A=0.003333/2 (NorthernSweden)
                                          HGVS:

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