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Items: 1 to 20 of 3558

1.

rs1491471119 has merged into rs34992073 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    5:80564714 (GRCh38)
    5:79860533 (GRCh37)
    Canonical SPDI:
    NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:80564702:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    ANKRD34B (Varview)
    Functional Consequence:
    5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000005.10:g.80564714_80564722del, NC_000005.10:g.80564716_80564722del, NC_000005.10:g.80564717_80564722del, NC_000005.10:g.80564718_80564722del, NC_000005.10:g.80564719_80564722del, NC_000005.10:g.80564721_80564722del, NC_000005.10:g.80564722del, NC_000005.10:g.80564722dup, NC_000005.10:g.80564721_80564722dup, NC_000005.10:g.80564720_80564722dup, NC_000005.10:g.80564719_80564722dup, NC_000005.10:g.80564718_80564722dup, NC_000005.10:g.80564717_80564722dup, NC_000005.10:g.80564716_80564722dup, NC_000005.10:g.80564714_80564722dup, NC_000005.10:g.80564713_80564722dup, NC_000005.10:g.80564722_80564723insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.79860533_79860541del, NC_000005.9:g.79860535_79860541del, NC_000005.9:g.79860536_79860541del, NC_000005.9:g.79860537_79860541del, NC_000005.9:g.79860538_79860541del, NC_000005.9:g.79860540_79860541del, NC_000005.9:g.79860541del, NC_000005.9:g.79860541dup, NC_000005.9:g.79860540_79860541dup, NC_000005.9:g.79860539_79860541dup, NC_000005.9:g.79860538_79860541dup, NC_000005.9:g.79860537_79860541dup, NC_000005.9:g.79860536_79860541dup, NC_000005.9:g.79860535_79860541dup, NC_000005.9:g.79860533_79860541dup, NC_000005.9:g.79860532_79860541dup, NC_000005.9:g.79860541_79860542insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_047417141.1:c.-1000_-992del, XM_047417141.1:c.-998_-992del, XM_047417141.1:c.-997_-992del, XM_047417141.1:c.-996_-992del, XM_047417141.1:c.-995_-992del, XM_047417141.1:c.-993_-992del, XM_047417141.1:c.-992del, XM_047417141.1:c.-992dup, XM_047417141.1:c.-993_-992dup, XM_047417141.1:c.-994_-992dup, XM_047417141.1:c.-995_-992dup, XM_047417141.1:c.-996_-992dup, XM_047417141.1:c.-997_-992dup, XM_047417141.1:c.-998_-992dup, XM_047417141.1:c.-1000_-992dup, XM_047417141.1:c.-1001_-992dup, XM_047417141.1:c.-992_-991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    2.

    rs1491416768 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      5:80567621 (GRCh38)
      5:79863440 (GRCh37)
      Canonical SPDI:
      NC_000005.10:80567620:CA:
      Gene:
      ANKRD34B (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00017/2 (ALFA)
      HGVS:
      3.

      rs1491138505 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CT [Show Flanks]
        Chromosome:
        5:80564703 (GRCh38)
        5:79860523 (GRCh37)
        Canonical SPDI:
        NC_000005.10:80564703:T:TCT
        Gene:
        ANKRD34B (Varview)
        Functional Consequence:
        5_prime_UTR_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TCT=0./0 (ALFA)
        TC=0.00004/0 (TOMMO)
        TC=0.00024/2 (GnomAD)
        HGVS:
        4.

        rs1491000653 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          5:80556385 (GRCh38)
          5:79852204 (GRCh37)
          Canonical SPDI:
          NC_000005.10:80556384:C:A
          Gene:
          ANKRD34B (Varview)
          Functional Consequence:
          500B_downstream_variant,downstream_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:
          6.
          7.

          rs1489776166 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            5:80570247 (GRCh38)
            5:79866066 (GRCh37)
            Canonical SPDI:
            NC_000005.10:80570246:A:C
            Gene:
            ANKRD34B (Varview)
            Functional Consequence:
            5_prime_UTR_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            C=0.000036/5 (GnomAD)
            HGVS:
            8.

            rs1489665156 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              5:80556546 (GRCh38)
              5:79852365 (GRCh37)
              Canonical SPDI:
              NC_000005.10:80556545:G:A
              Gene:
              ANKRD34B (Varview)
              Functional Consequence:
              500B_downstream_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000015/4 (TOPMED)
              A=0.000021/3 (GnomAD)
              HGVS:
              9.

              rs1489541482 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GT>- [Show Flanks]
                Chromosome:
                5:80567206 (GRCh38)
                5:79863025 (GRCh37)
                Canonical SPDI:
                NC_000005.10:80567200:TGTGTGT:TGTGT
                Gene:
                ANKRD34B (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TGTGT=0.000071/1 (ALFA)
                -=0.000014/2 (GnomAD)
                -=0.000034/9 (TOPMED)
                HGVS:
                10.

                rs1489486832 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  5:80568878 (GRCh38)
                  5:79864697 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:80568877:C:A
                  Gene:
                  ANKRD34B (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  12.

                  rs1488193402 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    5:80564702 (GRCh38)
                    5:79860521 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:80564700:TCT:T
                    Gene:
                    ANKRD34B (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    -=0.00001/1 (GnomAD)
                    HGVS:
                    13.

                    rs1488074129 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      5:80566057 (GRCh38)
                      5:79861876 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:80566056:C:A
                      Gene:
                      ANKRD34B (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      14.

                      rs1488032471 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        5:80563576 (GRCh38)
                        5:79859395 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:80563575:T:C
                        Gene:
                        ANKRD34B (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000064/1 (ALFA)
                        C=0.000008/2 (TOPMED)
                        C=0.000223/1 (Estonian)
                        C=0.000314/44 (GnomAD)
                        HGVS:
                        15.

                        rs1487994691 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          5:80570784 (GRCh38)
                          5:79866603 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:80570783:G:A,NC_000005.10:80570783:G:C
                          Gene:
                          ANKRD34B (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          16.

                          rs1487923658 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            5:80564973 (GRCh38)
                            5:79860792 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:80564972:G:A
                            Gene:
                            ANKRD34B (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            18.

                            rs1487854768 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              5:80569862 (GRCh38)
                              5:79865681 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:80569861:G:A
                              Gene:
                              ANKRD34B (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              19.

                              rs1487549650 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->G [Show Flanks]
                                Chromosome:
                                5:80571136 (GRCh38)
                                5:79866956 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:80571136:GGGG:GGGGG
                                Gene:
                                ANKRD34B (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GGGGG=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                20.

                                rs1487542941 has merged into rs745736258 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
                                  Chromosome:
                                  5:80568907 (GRCh38)
                                  5:79864726 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:80568889:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
                                  Gene:
                                  ANKRD34B (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  ACACACACACACACACACACA=0./0 (ALFA)
                                  HGVS:
                                  NC_000005.10:g.80568891CA[8], NC_000005.10:g.80568891CA[10], NC_000005.10:g.80568891CA[11], NC_000005.10:g.80568891CA[12], NC_000005.10:g.80568891CA[13], NC_000005.10:g.80568891CA[14], NC_000005.10:g.80568891CA[15], NC_000005.10:g.80568891CA[16], NC_000005.10:g.80568891CA[17], NC_000005.10:g.80568891CA[19], NC_000005.10:g.80568891CA[20], NC_000005.10:g.80568891CA[21], NC_000005.10:g.80568891CA[22], NC_000005.10:g.80568891CA[23], NC_000005.10:g.80568891CA[24], NC_000005.10:g.80568891CA[25], NC_000005.10:g.80568891CA[26], NC_000005.10:g.80568891CA[27], NC_000005.10:g.80568891CA[28], NC_000005.10:g.80568891CA[29], NC_000005.10:g.80568891CA[30], NC_000005.10:g.80568891CA[31], NC_000005.10:g.80568891CA[32], NC_000005.9:g.79864710CA[8], NC_000005.9:g.79864710CA[10], NC_000005.9:g.79864710CA[11], NC_000005.9:g.79864710CA[12], NC_000005.9:g.79864710CA[13], NC_000005.9:g.79864710CA[14], NC_000005.9:g.79864710CA[15], NC_000005.9:g.79864710CA[16], NC_000005.9:g.79864710CA[17], NC_000005.9:g.79864710CA[19], NC_000005.9:g.79864710CA[20], NC_000005.9:g.79864710CA[21], NC_000005.9:g.79864710CA[22], NC_000005.9:g.79864710CA[23], NC_000005.9:g.79864710CA[24], NC_000005.9:g.79864710CA[25], NC_000005.9:g.79864710CA[26], NC_000005.9:g.79864710CA[27], NC_000005.9:g.79864710CA[28], NC_000005.9:g.79864710CA[29], NC_000005.9:g.79864710CA[30], NC_000005.9:g.79864710CA[31], NC_000005.9:g.79864710CA[32]

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