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Items: 1 to 20 of 1000

1.

rs1490794769 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    15:43360112 (GRCh38)
    15:43652310 (GRCh37)
    Canonical SPDI:
    NC_000015.10:43360111:A:G
    Gene:
    ZSCAN29 (Varview)
    Functional Consequence:
    3_prime_UTR_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.000022/3 (GnomAD)
    HGVS:
    2.

    rs1490676537 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>T [Show Flanks]
      Chromosome:
      15:43369187 (GRCh38)
      15:43661385 (GRCh37)
      Canonical SPDI:
      NC_000015.10:43369186:A:T
      Gene:
      TUBGCP4 (Varview), ZSCAN29 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant,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:
      3.

      rs1490605138 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        15:43363579 (GRCh38)
        15:43655777 (GRCh37)
        Canonical SPDI:
        NC_000015.10:43363578:C:T
        Gene:
        ZSCAN29 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490371478 has merged into rs34497135 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
          Chromosome:
          15:43360648 (GRCh38)
          15:43652846 (GRCh37)
          Canonical SPDI:
          NC_000015.10:43360636:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:43360636:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:43360636:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:43360636:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:43360636:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
          Gene:
          ZSCAN29 (Varview)
          Functional Consequence:
          3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAA=0./0 (ALFA)
          A=0.2/8 (GENOME_DK)
          HGVS:
          NC_000015.10:g.43360648_43360650del, NC_000015.10:g.43360649_43360650del, NC_000015.10:g.43360650del, NC_000015.10:g.43360650dup, NC_000015.10:g.43360649_43360650dup, NC_000015.9:g.43652846_43652848del, NC_000015.9:g.43652847_43652848del, NC_000015.9:g.43652848del, NC_000015.9:g.43652848dup, NC_000015.9:g.43652847_43652848dup, NM_152455.4:c.*434_*436del, NM_152455.4:c.*435_*436del, NM_152455.4:c.*436del, NM_152455.4:c.*436dup, NM_152455.4:c.*435_*436dup, NM_152455.3:c.*434_*436del, NM_152455.3:c.*435_*436del, NM_152455.3:c.*436del, NM_152455.3:c.*436dup, NM_152455.3:c.*435_*436dup, XM_047432187.1:c.*434_*436del, XM_047432187.1:c.*435_*436del, XM_047432187.1:c.*436del, XM_047432187.1:c.*436dup, XM_047432187.1:c.*435_*436dup, NM_001372080.1:c.*434_*436del, NM_001372080.1:c.*435_*436del, NM_001372080.1:c.*436del, NM_001372080.1:c.*436dup, NM_001372080.1:c.*435_*436dup, XM_047432188.1:c.*434_*436del, XM_047432188.1:c.*435_*436del, XM_047432188.1:c.*436del, XM_047432188.1:c.*436dup, XM_047432188.1:c.*435_*436dup
          5.

          rs1490346434 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            15:43368297 (GRCh38)
            15:43660495 (GRCh37)
            Canonical SPDI:
            NC_000015.10:43368296:G:A
            Gene:
            ZSCAN29 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            HGVS:
            6.

            rs1489882427 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              15:43360258 (GRCh38)
              15:43652456 (GRCh37)
              Canonical SPDI:
              NC_000015.10:43360257:T:C
              Gene:
              ZSCAN29 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489836171 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                15:43359031 (GRCh38)
                15:43651229 (GRCh37)
                Canonical SPDI:
                NC_000015.10:43359030:C:T
                Gene:
                ZSCAN29 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1489580027 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  15:43370305 (GRCh38)
                  15:43662503 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:43370304:G:C
                  Gene:
                  TUBGCP4 (Varview), ZSCAN29 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1489430992 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    15:43364913 (GRCh38)
                    15:43657111 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:43364912:A:G,NC_000015.10:43364912:A:T
                    Gene:
                    ZSCAN29 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.000061/1 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489330620 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      15:43370303 (GRCh38)
                      15:43662501 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:43370302:A:C
                      Gene:
                      TUBGCP4 (Varview), ZSCAN29 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                      HGVS:
                      11.

                      rs1489040610 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        15:43361000 (GRCh38)
                        15:43653198 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:43360999:T:C
                        Gene:
                        ZSCAN29 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489025572 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          15:43361709 (GRCh38)
                          15:43653907 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:43361708:T:C
                          Gene:
                          ZSCAN29 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000015/4 (TOPMED)
                          HGVS:
                          13.

                          rs1488945594 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            15:43371037 (GRCh38)
                            15:43663235 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:43371036:C:A
                            Gene:
                            TUBGCP4 (Varview), ZSCAN29 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000224/1 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000223/1 (Estonian)
                            HGVS:
                            14.

                            rs1488834373 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              15:43368652 (GRCh38)
                              15:43660850 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:43368651:A:G
                              Gene:
                              ZSCAN29 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000071/1 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1488759617 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                15:43363192 (GRCh38)
                                15:43655390 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:43363191:T:A
                                Gene:
                                ZSCAN29 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                16.

                                rs1488695905 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  15:43362275 (GRCh38)
                                  15:43654473 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:43362274:T:C
                                  Gene:
                                  ZSCAN29 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000026/7 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1488654979 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    15:43366495 (GRCh38)
                                    15:43658693 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:43366494:A:G
                                    Gene:
                                    ZSCAN29 (Varview)
                                    Functional Consequence:
                                    5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    18.

                                    rs1488544029 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      15:43366271 (GRCh38)
                                      15:43658469 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:43366270:C:T
                                      Gene:
                                      ZSCAN29 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (GnomAD_exomes)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1488511895 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        15:43363913 (GRCh38)
                                        15:43656111 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:43363912:A:G
                                        Gene:
                                        ZSCAN29 (Varview)
                                        Functional Consequence:
                                        splice_donor_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        20.

                                        rs1488457504 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          15:43360305 (GRCh38)
                                          15:43652503 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:43360304:C:T
                                          Gene:
                                          ZSCAN29 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.000022/3 (GnomAD)
                                          HGVS:

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