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Items: 1 to 20 of 1624

1.

rs1491490068 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GC>- [Show Flanks]
    Chromosome:
    13:30978283 (GRCh38)
    13:31552420 (GRCh37)
    Canonical SPDI:
    NC_000013.11:30978282:GC:
    Gene:
    LOC105370145 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.0008/13 (ALFA)
    -=0.00092/15 (TOMMO)
    -=0.00328/6 (Korea1K)
    HGVS:
    2.

    rs1491452149 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      13:30978255 (GRCh38)
      13:31552392 (GRCh37)
      Canonical SPDI:
      NC_000013.11:30978254:CA:
      Gene:
      LOC105370145 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491341390 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CAA [Show Flanks]
        Chromosome:
        13:30978283 (GRCh38)
        13:31552421 (GRCh37)
        Canonical SPDI:
        NC_000013.11:30978283:CAA:CAACAA
        Gene:
        LOC105370145 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        CAACAA=0./0 (ALFA)
        CAA=0.000004/1 (TOPMED)
        HGVS:
        4.

        rs1491188364 has merged into rs71192672 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          13:30978266 (GRCh38)
          13:31552403 (GRCh37)
          Canonical SPDI:
          NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:30978255:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          LOC105370145 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAA=0./0 (ALFA)
          AAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
          AAAAAAAAAAAAAAAA=0.4956/2482 (1000Genomes)
          HGVS:
          NC_000013.11:g.30978266_30978282del, NC_000013.11:g.30978267_30978282del, NC_000013.11:g.30978268_30978282del, NC_000013.11:g.30978269_30978282del, NC_000013.11:g.30978270_30978282del, NC_000013.11:g.30978271_30978282del, NC_000013.11:g.30978272_30978282del, NC_000013.11:g.30978273_30978282del, NC_000013.11:g.30978274_30978282del, NC_000013.11:g.30978275_30978282del, NC_000013.11:g.30978276_30978282del, NC_000013.11:g.30978277_30978282del, NC_000013.11:g.30978278_30978282del, NC_000013.11:g.30978279_30978282del, NC_000013.11:g.30978280_30978282del, NC_000013.11:g.30978281_30978282del, NC_000013.11:g.30978282del, NC_000013.11:g.30978282dup, NC_000013.11:g.30978281_30978282dup, NC_000013.11:g.30978280_30978282dup, NC_000013.11:g.30978279_30978282dup, NC_000013.11:g.30978278_30978282dup, NC_000013.11:g.30978277_30978282dup, NC_000013.11:g.30978276_30978282dup, NC_000013.11:g.30978275_30978282dup, NC_000013.11:g.30978274_30978282dup, NC_000013.11:g.30978273_30978282dup, NC_000013.11:g.30978272_30978282dup, NC_000013.11:g.30978271_30978282dup, NC_000013.11:g.30978269_30978282dup, NC_000013.11:g.30978268_30978282dup, NC_000013.11:g.30978267_30978282dup, NC_000013.11:g.30978266_30978282dup, NC_000013.11:g.30978265_30978282dup, NC_000013.11:g.30978264_30978282dup, NC_000013.11:g.30978263_30978282dup, NC_000013.11:g.30978262_30978282dup, NC_000013.11:g.30978261_30978282dup, NC_000013.11:g.30978260_30978282dup, NC_000013.11:g.30978259_30978282dup, NC_000013.11:g.30978258_30978282dup, NC_000013.11:g.30978257_30978282dup, NC_000013.11:g.30978256_30978282dup, NC_000013.11:g.30978282_30978283insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.30978282_30978283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.30978282_30978283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.30978282_30978283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.30978282_30978283insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.31552403_31552419del, NC_000013.10:g.31552404_31552419del, NC_000013.10:g.31552405_31552419del, NC_000013.10:g.31552406_31552419del, NC_000013.10:g.31552407_31552419del, NC_000013.10:g.31552408_31552419del, NC_000013.10:g.31552409_31552419del, NC_000013.10:g.31552410_31552419del, NC_000013.10:g.31552411_31552419del, NC_000013.10:g.31552412_31552419del, NC_000013.10:g.31552413_31552419del, NC_000013.10:g.31552414_31552419del, NC_000013.10:g.31552415_31552419del, NC_000013.10:g.31552416_31552419del, NC_000013.10:g.31552417_31552419del, NC_000013.10:g.31552418_31552419del, NC_000013.10:g.31552419del, NC_000013.10:g.31552419dup, NC_000013.10:g.31552418_31552419dup, NC_000013.10:g.31552417_31552419dup, NC_000013.10:g.31552416_31552419dup, NC_000013.10:g.31552415_31552419dup, NC_000013.10:g.31552414_31552419dup, NC_000013.10:g.31552413_31552419dup, NC_000013.10:g.31552412_31552419dup, NC_000013.10:g.31552411_31552419dup, NC_000013.10:g.31552410_31552419dup, NC_000013.10:g.31552409_31552419dup, NC_000013.10:g.31552408_31552419dup, NC_000013.10:g.31552406_31552419dup, NC_000013.10:g.31552405_31552419dup, NC_000013.10:g.31552404_31552419dup, NC_000013.10:g.31552403_31552419dup, NC_000013.10:g.31552402_31552419dup, NC_000013.10:g.31552401_31552419dup, NC_000013.10:g.31552400_31552419dup, NC_000013.10:g.31552399_31552419dup, NC_000013.10:g.31552398_31552419dup, NC_000013.10:g.31552397_31552419dup, NC_000013.10:g.31552396_31552419dup, NC_000013.10:g.31552395_31552419dup, NC_000013.10:g.31552394_31552419dup, NC_000013.10:g.31552393_31552419dup, NC_000013.10:g.31552419_31552420insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.31552419_31552420insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.31552419_31552420insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.31552419_31552420insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.31552419_31552420insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          5.

          rs1490630654 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            13:30978672 (GRCh38)
            13:31552809 (GRCh37)
            Canonical SPDI:
            NC_000013.11:30978671:C:A,NC_000013.11:30978671:C:T
            Gene:
            LOC105370145 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            T=0.000071/2 (TOMMO)
            HGVS:
            6.

            rs1490395241 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              13:30979542 (GRCh38)
              13:31553679 (GRCh37)
              Canonical SPDI:
              NC_000013.11:30979541:G:C
              Gene:
              LOC105370145 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000008/2 (TOPMED)
              C=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1489827260 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                13:30977492 (GRCh38)
                13:31551629 (GRCh37)
                Canonical SPDI:
                NC_000013.11:30977491:A:T
                Gene:
                LOC105370145 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1489499837 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  13:30978033 (GRCh38)
                  13:31552170 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:30978032:T:G
                  Gene:
                  LOC105370145 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1488946516 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    13:30972647 (GRCh38)
                    13:31546784 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:30972646:G:
                    Gene:
                    TEX26 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000004/1 (TOPMED)
                    -=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1487909920 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      13:30975909 (GRCh38)
                      13:31550046 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:30975908:G:A
                      Gene:
                      TEX26 (Varview), LOC105370145 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1487865060 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        13:30977585 (GRCh38)
                        13:31551722 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:30977584:G:A,NC_000013.11:30977584:G:T
                        Gene:
                        LOC105370145 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1487567104 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          13:30976213 (GRCh38)
                          13:31550350 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:30976212:A:C
                          Gene:
                          LOC105370145 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1487048123 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            13:30978755 (GRCh38)
                            13:31552892 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:30978754:G:A
                            Gene:
                            LOC105370145 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1486929288 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              13:30976199 (GRCh38)
                              13:31550336 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:30976198:A:T
                              Gene:
                              LOC105370145 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000019/5 (TOPMED)
                              T=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1486458145 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->A [Show Flanks]
                                Chromosome:
                                13:30978087 (GRCh38)
                                13:31552225 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:30978087:AAAAA:AAAAAA
                                Gene:
                                LOC105370145 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAA=0./0 (ALFA)
                                A=0.000019/5 (TOPMED)
                                A=0.000029/4 (GnomAD)
                                HGVS:
                                16.

                                rs1485574091 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  13:30972921 (GRCh38)
                                  13:31547058 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:30972920:G:C
                                  Gene:
                                  TEX26 (Varview), LOC105370145 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1485361046 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    13:30978681 (GRCh38)
                                    13:31552818 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:30978680:C:G,NC_000013.11:30978680:C:T
                                    Gene:
                                    LOC105370145 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485089325 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      13:30978167 (GRCh38)
                                      13:31552304 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:30978166:T:G
                                      Gene:
                                      LOC105370145 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1484998480 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,G [Show Flanks]
                                        Chromosome:
                                        13:30974165 (GRCh38)
                                        13:31548302 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:30974164:T:A,NC_000013.11:30974164:T:G
                                        Gene:
                                        TEX26 (Varview), LOC105370145 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000018/2 (GnomAD)
                                        A=0.001946/33 (TOMMO)
                                        HGVS:
                                        20.

                                        rs1484482745 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          13:30975681 (GRCh38)
                                          13:31549818 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:30975680:T:C
                                          Gene:
                                          TEX26 (Varview), LOC105370145 (Varview)
                                          Functional Consequence:
                                          500B_downstream_variant,downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000021/3 (GnomAD)
                                          HGVS:

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