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Items: 1 to 20 of 3467

1.

rs1491300287 has merged into rs35078476 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    C>-,CC [Show Flanks]
    Chromosome:
    17:81720823 (GRCh38)
    17:79687853 (GRCh37)
    Canonical SPDI:
    NC_000017.11:81720822:CCCCCCC:CCCCCC,NC_000017.11:81720822:CCCCCCC:CCCCCCCC
    Gene:
    SLC25A10 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CCCCCCCC=0./0 (ALFA)
    -=0.00006/1 (TOMMO)
    -=0.00031/2 (1000Genomes)
    -=0.00055/1 (Korea1K)
    -=0.06012/60 (GoNL)
    HGVS:
    2.

    rs1490941925 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:81720608 (GRCh38)
      17:79687638 (GRCh37)
      Canonical SPDI:
      NC_000017.11:81720607:G:A
      Gene:
      SLC25A10 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,3_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:
      3.

      rs1490693749 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        G>- [Show Flanks]
        Chromosome:
        17:81718104 (GRCh38)
        17:79685134 (GRCh37)
        Canonical SPDI:
        NC_000017.11:81718103:GGG:GG
        Gene:
        SLC25A10 (Varview)
        Functional Consequence:
        frameshift_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency
        MAF:
        -=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490592293 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:81716987 (GRCh38)
          17:79684017 (GRCh37)
          Canonical SPDI:
          NC_000017.11:81716986:C:T
          Gene:
          SLC25A10 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000007/1 (GnomAD)
          HGVS:
          5.

          rs1490117102 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:81712882 (GRCh38)
            17:79679912 (GRCh37)
            Canonical SPDI:
            NC_000017.11:81712881:T:C
            Gene:
            SLC25A10 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000026/7 (TOPMED)
            C=0.000043/6 (GnomAD)
            HGVS:
            6.

            rs1489989533 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              17:81719133 (GRCh38)
              17:79686163 (GRCh37)
              Canonical SPDI:
              NC_000017.11:81719132:A:G
              Gene:
              SLC25A10 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1489641519 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                17:81718483 (GRCh38)
                17:79685513 (GRCh37)
                Canonical SPDI:
                NC_000017.11:81718482:C:A
                Gene:
                SLC25A10 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1489575366 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:81721030 (GRCh38)
                  17:79688060 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:81721029:G:A
                  Gene:
                  SLC25A10 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000008/2 (TOPMED)
                  A=0.000021/3 (GnomAD)
                  HGVS:
                  9.

                  rs1489555019 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:81721363 (GRCh38)
                    17:79688393 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:81721362:C:T
                    Gene:
                    SLC25A10 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    C=0.5/1 (SGDP_PRJ)
                    HGVS:
                    10.

                    rs1489299019 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      17:81718415 (GRCh38)
                      17:79685445 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:81718414:G:A
                      Gene:
                      SLC25A10 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      11.

                      rs1489104090 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        17:81710403 (GRCh38)
                        17:79677433 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:81710400:CACA:CA
                        Gene:
                        SLC25A10 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CACA=0./0 (ALFA)
                        -=0.000038/10 (TOPMED)
                        -=0.000064/9 (GnomAD)
                        HGVS:
                        12.

                        rs1488995827 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:81721262 (GRCh38)
                          17:79688292 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:81721261:G:A
                          Gene:
                          SLC25A10 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          13.

                          rs1488452099 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:81718154 (GRCh38)
                            17:79685184 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:81718153:T:C
                            Gene:
                            SLC25A10 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,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:
                            14.

                            rs1488080608 has merged into rs1038613889 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              G>-,GG [Show Flanks]
                              Chromosome:
                              17:81712297 (GRCh38)
                              17:79679327 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:81712296:GGGG:GGG,NC_000017.11:81712296:GGGG:GGGGG
                              Gene:
                              SLC25A10 (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GGGGG=0.00005/1 (ALFA)
                              -=0.00022/1 (Estonian)
                              HGVS:
                              15.

                              rs1487999195 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:81718897 (GRCh38)
                                17:79685927 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:81718896:C:T
                                Gene:
                                SLC25A10 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000026/7 (TOPMED)
                                T=0.000029/4 (GnomAD)
                                HGVS:
                                16.

                                rs1487957290 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:81714504 (GRCh38)
                                  17:79681534 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:81714503:C:T
                                  Gene:
                                  SLC25A10 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1487613811 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    17:81712157 (GRCh38)
                                    17:79679187 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:81712156:G:T
                                    Gene:
                                    SLC25A10 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487552993 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      17:81712609 (GRCh38)
                                      17:79679639 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:81712608:G:A,NC_000017.11:81712608:G:C
                                      Gene:
                                      SLC25A10 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1487334491 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        T>- [Show Flanks]
                                        Chromosome:
                                        17:81717609 (GRCh38)
                                        17:79684639 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:81717608:T:
                                        Gene:
                                        SLC25A10 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486707585 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          17:81717347 (GRCh38)
                                          17:79684377 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:81717346:T:A
                                          Gene:
                                          SLC25A10 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000029/4 (GnomAD)
                                          HGVS:

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