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Items: 1 to 20 of 1000

1.

rs1491487375 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    1:54042056 (GRCh38)
    1:54507730 (GRCh37)
    Canonical SPDI:
    NC_000001.11:54042056::C
    Gene:
    TMEM59 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    HGVS:
    2.

    rs1491476889 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GAAAAAA [Show Flanks]
      Chromosome:
      1:54044342 (GRCh38)
      1:54510016 (GRCh37)
      Canonical SPDI:
      NC_000001.11:54044342:AAAAAA:AAAAAAGAAAAAA
      Gene:
      TMEM59 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAGAAAAAA=0./0 (ALFA)
      AAAAAAG=0.0001/7 (GnomAD)
      HGVS:
      3.

      rs1491308647 has merged into rs71063899 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        1:54044352 (GRCh38)
        1:54510025 (GRCh37)
        Canonical SPDI:
        NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54044341:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        TMEM59 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000001.11:g.54044352_54044360del, NC_000001.11:g.54044353_54044360del, NC_000001.11:g.54044354_54044360del, NC_000001.11:g.54044355_54044360del, NC_000001.11:g.54044356_54044360del, NC_000001.11:g.54044357_54044360del, NC_000001.11:g.54044358_54044360del, NC_000001.11:g.54044359_54044360del, NC_000001.11:g.54044360del, NC_000001.11:g.54044360dup, NC_000001.11:g.54044359_54044360dup, NC_000001.11:g.54044358_54044360dup, NC_000001.11:g.54044357_54044360dup, NC_000001.11:g.54044356_54044360dup, NC_000001.11:g.54044355_54044360dup, NC_000001.11:g.54044354_54044360dup, NC_000001.11:g.54044353_54044360dup, NC_000001.11:g.54044352_54044360dup, NC_000001.11:g.54044351_54044360dup, NC_000001.11:g.54044350_54044360dup, NC_000001.11:g.54044349_54044360dup, NC_000001.11:g.54044346_54044360dup, NC_000001.10:g.54510025_54510033del, NC_000001.10:g.54510026_54510033del, NC_000001.10:g.54510027_54510033del, NC_000001.10:g.54510028_54510033del, NC_000001.10:g.54510029_54510033del, NC_000001.10:g.54510030_54510033del, NC_000001.10:g.54510031_54510033del, NC_000001.10:g.54510032_54510033del, NC_000001.10:g.54510033del, NC_000001.10:g.54510033dup, NC_000001.10:g.54510032_54510033dup, NC_000001.10:g.54510031_54510033dup, NC_000001.10:g.54510030_54510033dup, NC_000001.10:g.54510029_54510033dup, NC_000001.10:g.54510028_54510033dup, NC_000001.10:g.54510027_54510033dup, NC_000001.10:g.54510026_54510033dup, NC_000001.10:g.54510025_54510033dup, NC_000001.10:g.54510024_54510033dup, NC_000001.10:g.54510023_54510033dup, NC_000001.10:g.54510022_54510033dup, NC_000001.10:g.54510019_54510033dup
        4.

        rs1490844576 has merged into rs76749666 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          1:54034127 (GRCh38)
          1:54499800 (GRCh37)
          Canonical SPDI:
          NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:54034118:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          TMEM59 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAA=0./0 (ALFA)
          -=0.000008/2 (TOPMED)
          -=0.33147/1660 (1000Genomes)
          HGVS:
          NC_000001.11:g.54034127_54034140del, NC_000001.11:g.54034131_54034140del, NC_000001.11:g.54034132_54034140del, NC_000001.11:g.54034133_54034140del, NC_000001.11:g.54034134_54034140del, NC_000001.11:g.54034135_54034140del, NC_000001.11:g.54034136_54034140del, NC_000001.11:g.54034137_54034140del, NC_000001.11:g.54034138_54034140del, NC_000001.11:g.54034139_54034140del, NC_000001.11:g.54034140del, NC_000001.11:g.54034140dup, NC_000001.11:g.54034139_54034140dup, NC_000001.11:g.54034138_54034140dup, NC_000001.11:g.54034137_54034140dup, NC_000001.11:g.54034136_54034140dup, NC_000001.11:g.54034135_54034140dup, NC_000001.11:g.54034133_54034140dup, NC_000001.10:g.54499800_54499813del, NC_000001.10:g.54499804_54499813del, NC_000001.10:g.54499805_54499813del, NC_000001.10:g.54499806_54499813del, NC_000001.10:g.54499807_54499813del, NC_000001.10:g.54499808_54499813del, NC_000001.10:g.54499809_54499813del, NC_000001.10:g.54499810_54499813del, NC_000001.10:g.54499811_54499813del, NC_000001.10:g.54499812_54499813del, NC_000001.10:g.54499813del, NC_000001.10:g.54499813dup, NC_000001.10:g.54499812_54499813dup, NC_000001.10:g.54499811_54499813dup, NC_000001.10:g.54499810_54499813dup, NC_000001.10:g.54499809_54499813dup, NC_000001.10:g.54499808_54499813dup, NC_000001.10:g.54499806_54499813dup
          5.

          rs1490771859 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            1:54042271 (GRCh38)
            1:54507944 (GRCh37)
            Canonical SPDI:
            NC_000001.11:54042270:T:G
            Gene:
            TMEM59 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000023/6 (TOPMED)
            HGVS:
            6.

            rs1490700051 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->CGGCAAGCTCCCA [Show Flanks]
              Chromosome:
              1:54052711 (GRCh38)
              1:54518385 (GRCh37)
              Canonical SPDI:
              NC_000001.11:54052711::CGGCAAGCTCCCA
              Gene:
              TMEM59 (Varview), TCEANC2 (Varview), MIR4781 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,2KB_upstream_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CGGCAAGCTCCCA=0.000447/2 (ALFA)
              CGGCAAGCTCCCA=0.000007/1 (GnomAD)
              CGGCAAGCTCCCA=0.000446/2 (Estonian)
              HGVS:
              7.

              rs1490556762 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:54034686 (GRCh38)
                1:54500359 (GRCh37)
                Canonical SPDI:
                NC_000001.11:54034685:A:G
                Gene:
                TMEM59 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                HGVS:
                8.

                rs1490308359 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  1:54026300 (GRCh38)
                  1:54491973 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:54026299:A:T
                  Gene:
                  TMEM59 (Varview)
                  Functional Consequence:
                  500B_downstream_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490274988 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:54042911 (GRCh38)
                    1:54508584 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:54042910:G:A
                    Gene:
                    TMEM59 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490076068 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      1:54044125 (GRCh38)
                      1:54509798 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:54044124:G:A,NC_000001.11:54044124:G:C
                      Gene:
                      TMEM59 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      A=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1489971845 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        1:54052789 (GRCh38)
                        1:54518462 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:54052788:C:A
                        Gene:
                        TMEM59 (Varview), TCEANC2 (Varview), MIR4781 (Varview)
                        Functional Consequence:
                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489912742 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:54034081 (GRCh38)
                          1:54499754 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:54034080:T:C
                          Gene:
                          TMEM59 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000008/1 (GnomAD)
                          C=0.000546/1 (Korea1K)
                          HGVS:
                          13.

                          rs1489884475 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:54053604 (GRCh38)
                            1:54519277 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:54053603:G:A
                            Gene:
                            TMEM59 (Varview), TCEANC2 (Varview), MIR4781 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000019/5 (TOPMED)
                            A=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1489867059 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:54035142 (GRCh38)
                              1:54500815 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:54035141:T:C
                              Gene:
                              TMEM59 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000019/5 (TOPMED)
                              HGVS:
                              15.

                              rs1489817736 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                AA>- [Show Flanks]
                                Chromosome:
                                1:54026857 (GRCh38)
                                1:54492530 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:54026856:AA:
                                Gene:
                                TMEM59 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1489807473 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:54033418 (GRCh38)
                                  1:54499091 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:54033417:T:C
                                  Gene:
                                  TMEM59 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000029/4 (GnomAD)
                                  C=0.000071/2 (TOMMO)
                                  HGVS:
                                  17.

                                  rs1489373852 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,G [Show Flanks]
                                    Chromosome:
                                    1:54044394 (GRCh38)
                                    1:54510067 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:54044393:T:A,NC_000001.11:54044393:T:G
                                    Gene:
                                    TMEM59 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    A=0.000029/4 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489357170 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:54048211 (GRCh38)
                                      1:54513884 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:54048210:C:T
                                      Gene:
                                      TMEM59 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489269323 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:54052269 (GRCh38)
                                        1:54517942 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:54052268:A:G
                                        Gene:
                                        TMEM59 (Varview), TCEANC2 (Varview), MIR4781 (Varview)
                                        Functional Consequence:
                                        intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489225124 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          1:54036852 (GRCh38)
                                          1:54502525 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:54036851:A:G
                                          Gene:
                                          TMEM59 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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