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Items: 1 to 20 of 2833

1.

rs1491517231 has merged into rs10654228 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
    Chromosome:
    10:102430143 (GRCh38)
    10:104189900 (GRCh37)
    Canonical SPDI:
    NC_000010.11:102430131:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:102430131:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:102430131:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:102430131:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:102430131:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
    Gene:
    CUEDC2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by cluster
    HGVS:
    2.

    rs1491283294 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      10:102430146 (GRCh38)
      10:104189903 (GRCh37)
      Canonical SPDI:
      NC_000010.11:102430145:AT:
      Gene:
      CUEDC2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00152/18 (ALFA)
      -=0.01531/222 (GnomAD)
      HGVS:
      3.

      rs1490972933 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        10:102427011 (GRCh38)
        10:104186768 (GRCh37)
        Canonical SPDI:
        NC_000010.11:102427010:T:A
        Gene:
        CUEDC2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490777640 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          TA>-
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1490620946 has merged into rs57965979 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            10:102434387 (GRCh38)
            10:104194144 (GRCh37)
            Canonical SPDI:
            NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:102434374:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            CUEDC2 (Varview)
            Functional Consequence:
            upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000010.11:g.102434387_102434398del, NC_000010.11:g.102434388_102434398del, NC_000010.11:g.102434389_102434398del, NC_000010.11:g.102434390_102434398del, NC_000010.11:g.102434391_102434398del, NC_000010.11:g.102434392_102434398del, NC_000010.11:g.102434393_102434398del, NC_000010.11:g.102434394_102434398del, NC_000010.11:g.102434395_102434398del, NC_000010.11:g.102434396_102434398del, NC_000010.11:g.102434397_102434398del, NC_000010.11:g.102434398del, NC_000010.11:g.102434398dup, NC_000010.11:g.102434397_102434398dup, NC_000010.11:g.102434396_102434398dup, NC_000010.11:g.102434395_102434398dup, NC_000010.11:g.102434394_102434398dup, NC_000010.11:g.102434393_102434398dup, NC_000010.11:g.102434392_102434398dup, NC_000010.11:g.102434391_102434398dup, NC_000010.11:g.102434390_102434398dup, NC_000010.11:g.102434389_102434398dup, NC_000010.11:g.102434388_102434398dup, NC_000010.11:g.102434387_102434398dup, NC_000010.11:g.102434386_102434398dup, NC_000010.11:g.102434384_102434398dup, NC_000010.11:g.102434383_102434398dup, NC_000010.11:g.102434382_102434398dup, NC_000010.11:g.102434381_102434398dup, NC_000010.11:g.102434380_102434398dup, NC_000010.11:g.102434379_102434398dup, NC_000010.10:g.104194144_104194155del, NC_000010.10:g.104194145_104194155del, NC_000010.10:g.104194146_104194155del, NC_000010.10:g.104194147_104194155del, NC_000010.10:g.104194148_104194155del, NC_000010.10:g.104194149_104194155del, NC_000010.10:g.104194150_104194155del, NC_000010.10:g.104194151_104194155del, NC_000010.10:g.104194152_104194155del, NC_000010.10:g.104194153_104194155del, NC_000010.10:g.104194154_104194155del, NC_000010.10:g.104194155del, NC_000010.10:g.104194155dup, NC_000010.10:g.104194154_104194155dup, NC_000010.10:g.104194153_104194155dup, NC_000010.10:g.104194152_104194155dup, NC_000010.10:g.104194151_104194155dup, NC_000010.10:g.104194150_104194155dup, NC_000010.10:g.104194149_104194155dup, NC_000010.10:g.104194148_104194155dup, NC_000010.10:g.104194147_104194155dup, NC_000010.10:g.104194146_104194155dup, NC_000010.10:g.104194145_104194155dup, NC_000010.10:g.104194144_104194155dup, NC_000010.10:g.104194143_104194155dup, NC_000010.10:g.104194141_104194155dup, NC_000010.10:g.104194140_104194155dup, NC_000010.10:g.104194139_104194155dup, NC_000010.10:g.104194138_104194155dup, NC_000010.10:g.104194137_104194155dup, NC_000010.10:g.104194136_104194155dup
            6.

            rs1490212626 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              10:102428654 (GRCh38)
              10:104188411 (GRCh37)
              Canonical SPDI:
              NC_000010.11:102428653:C:G
              Gene:
              CUEDC2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489657356 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                10:102425878 (GRCh38)
                10:104185635 (GRCh37)
                Canonical SPDI:
                NC_000010.11:102425877:C:G
                Gene:
                CUEDC2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000015/4 (TOPMED)
                G=0.000546/1 (Korea1K)
                HGVS:
                8.

                rs1489608295 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  10:102428153 (GRCh38)
                  10:104187910 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:102428152:C:A
                  Gene:
                  CUEDC2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000043/6 (GnomAD)
                  HGVS:
                  9.

                  rs1489437735 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    10:102429346 (GRCh38)
                    10:104189103 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:102429345:C:T
                    Gene:
                    CUEDC2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1489319647 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      10:102424390 (GRCh38)
                      10:104184147 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:102424389:G:T
                      Gene:
                      CUEDC2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1488960478 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        10:102433485 (GRCh38)
                        10:104193242 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:102433484:T:G
                        Gene:
                        CUEDC2 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1488946366 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          10:102428971 (GRCh38)
                          10:104188728 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:102428970:G:A
                          Gene:
                          CUEDC2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1488828858 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AG>- [Show Flanks]
                            Chromosome:
                            10:102432784 (GRCh38)
                            10:104192541 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:102432780:GAGAG:GAG
                            Gene:
                            CUEDC2 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            GAG=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1488719704 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              A>- [Show Flanks]
                              Chromosome:
                              10:102430335 (GRCh38)
                              10:104190092 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:102430334:AA:A
                              Gene:
                              CUEDC2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AA=0.000071/1 (ALFA)
                              -=0.000011/3 (TOPMED)
                              -=0.000014/2 (GnomAD)
                              HGVS:
                              15.

                              rs1488703692 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                10:102430123 (GRCh38)
                                10:104189880 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:102430122:C:T
                                Gene:
                                CUEDC2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1488458921 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  10:102428113 (GRCh38)
                                  10:104187870 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:102428112:G:A,NC_000010.11:102428112:G:T
                                  Gene:
                                  CUEDC2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1487700333 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    10:102426925 (GRCh38)
                                    10:104186682 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:102426924:A:C
                                    Gene:
                                    CUEDC2 (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:
                                    18.

                                    rs1487578844 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      10:102423365 (GRCh38)
                                      10:104183122 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:102423364:G:A
                                      Gene:
                                      CUEDC2 (Varview), FBXL15 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1486951088 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        10:102422936 (GRCh38)
                                        10:104182693 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:102422935:C:G,NC_000010.11:102422935:C:T
                                        Gene:
                                        CUEDC2 (Varview), FBXL15 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000047/1 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1486779404 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          10:102431164 (GRCh38)
                                          10:104190921 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:102431163:G:T
                                          Gene:
                                          CUEDC2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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