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Items: 1 to 20 of 1000

1.

rs1491564833 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    2:27256226 (GRCh38)
    2:27479094 (GRCh37)
    Canonical SPDI:
    NC_000002.12:27256225:AT:
    Gene:
    SLC30A3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0./0 (ALFA)
    -=0.000057/8 (GnomAD)
    -=0.000117/31 (TOPMED)
    HGVS:
    2.

    rs1491487202 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      2:27256241 (GRCh38)
      2:27479110 (GRCh37)
      Canonical SPDI:
      NC_000002.12:27256241:A:AA
      Gene:
      SLC30A3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AA=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1491409662 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        2:27256242 (GRCh38)
        2:27479110 (GRCh37)
        Canonical SPDI:
        NC_000002.12:27256240:TAT:T
        Gene:
        SLC30A3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        -=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490987820 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G,T [Show Flanks]
          Chromosome:
          2:27274717 (GRCh38)
          2:27497585 (GRCh37)
          Canonical SPDI:
          NC_000002.12:27274716:A:G,NC_000002.12:27274716:A:T
          Gene:
          SLC30A3 (Varview), DNAJC5G (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1490749731 has merged into rs1237606332 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
            Chromosome:
            2:27266073 (GRCh38)
            2:27488941 (GRCh37)
            Canonical SPDI:
            NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:27266060:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
            Gene:
            SLC30A3 (Varview)
            Functional Consequence:
            upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            6.

            rs1490693466 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              2:27266185 (GRCh38)
              2:27489053 (GRCh37)
              Canonical SPDI:
              NC_000002.12:27266184:A:G
              Gene:
              SLC30A3 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490600349 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:27275862 (GRCh38)
                2:27498730 (GRCh37)
                Canonical SPDI:
                NC_000002.12:27275861:C:T
                Gene:
                SLC30A3 (Varview), DNAJC5G (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000011/3 (TOPMED)
                T=0.000029/3 (GnomAD)
                HGVS:
                8.

                rs1490553793 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:27275366 (GRCh38)
                  2:27498234 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:27275365:C:T
                  Gene:
                  SLC30A3 (Varview), DNAJC5G (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.00003/8 (TOPMED)
                  HGVS:
                  9.

                  rs1490524873 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    2:27275308 (GRCh38)
                    2:27498176 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:27275307:T:G
                    Gene:
                    SLC30A3 (Varview), DNAJC5G (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1490433694 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->A [Show Flanks]
                      Chromosome:
                      2:27259174 (GRCh38)
                      2:27482043 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:27259174:A:AA
                      Gene:
                      SLC30A3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AA=0.000084/1 (ALFA)
                      A=0.000043/6 (GnomAD)
                      A=0.000136/36 (TOPMED)
                      HGVS:
                      11.

                      rs1490422657 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:27262132 (GRCh38)
                        2:27485000 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:27262131:C:T
                        Gene:
                        SLC30A3 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000071/1 (ALFA)
                        T=0.000019/5 (TOPMED)
                        T=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1490371297 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->A [Show Flanks]
                          Chromosome:
                          2:27259490 (GRCh38)
                          2:27482359 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:27259490::A
                          Gene:
                          SLC30A3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.00006/1 (ALFA)
                          HGVS:
                          13.

                          rs1490203828 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:27265581 (GRCh38)
                            2:27488449 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:27265580:G:A
                            Gene:
                            SLC30A3 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            14.

                            rs1490059936 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:27274849 (GRCh38)
                              2:27497717 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:27274848:T:C
                              Gene:
                              SLC30A3 (Varview), DNAJC5G (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490036822 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                2:27257490 (GRCh38)
                                2:27480358 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:27257489:C:G,NC_000002.12:27257489:C:T
                                Gene:
                                SLC30A3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000066/1 (ALFA)
                                T=0.000004/1 (TOPMED)
                                G=0.000223/1 (Estonian)
                                HGVS:
                                16.

                                rs1490003777 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:27273832 (GRCh38)
                                  2:27496700 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:27273831:G:A
                                  Gene:
                                  SLC30A3 (Varview), DNAJC5G (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_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:
                                  17.

                                  rs1489949362 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:27258712 (GRCh38)
                                    2:27481580 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:27258711:G:A
                                    Gene:
                                    SLC30A3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489879940 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:27260480 (GRCh38)
                                      2:27483348 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:27260479:T:C
                                      Gene:
                                      SLC30A3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489648422 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:27273716 (GRCh38)
                                        2:27496584 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:27273715:C:T
                                        Gene:
                                        SLC30A3 (Varview), DNAJC5G (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489495888 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          2:27269773 (GRCh38)
                                          2:27492641 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:27269772:G:A,NC_000002.12:27269772:G:T
                                          Gene:
                                          SLC30A3 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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