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Items: 1 to 20 of 15719

1.

rs1491441515 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    16:84028045 (GRCh38)
    16:84061650 (GRCh37)
    Canonical SPDI:
    NC_000016.10:84028044:AT:
    Gene:
    SLC38A8 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491398549 has merged into rs1221293803 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      16:84013437 (GRCh38)
      16:84047042 (GRCh37)
      Canonical SPDI:
      NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84013424:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      SLC38A8 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000016.10:g.84013437_84013449del, NC_000016.10:g.84013438_84013449del, NC_000016.10:g.84013439_84013449del, NC_000016.10:g.84013440_84013449del, NC_000016.10:g.84013441_84013449del, NC_000016.10:g.84013443_84013449del, NC_000016.10:g.84013444_84013449del, NC_000016.10:g.84013445_84013449del, NC_000016.10:g.84013446_84013449del, NC_000016.10:g.84013447_84013449del, NC_000016.10:g.84013448_84013449del, NC_000016.10:g.84013449del, NC_000016.10:g.84013449dup, NC_000016.10:g.84013448_84013449dup, NC_000016.10:g.84013447_84013449dup, NC_000016.10:g.84013446_84013449dup, NC_000016.10:g.84013445_84013449dup, NC_000016.10:g.84013444_84013449dup, NC_000016.10:g.84013443_84013449dup, NC_000016.10:g.84013442_84013449dup, NC_000016.10:g.84013441_84013449dup, NC_000016.10:g.84013440_84013449dup, NC_000016.10:g.84013439_84013449dup, NC_000016.10:g.84013437_84013449dup, NC_000016.10:g.84013435_84013449dup, NC_000016.10:g.84013449_84013450insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.84047042_84047054del, NC_000016.9:g.84047043_84047054del, NC_000016.9:g.84047044_84047054del, NC_000016.9:g.84047045_84047054del, NC_000016.9:g.84047046_84047054del, NC_000016.9:g.84047048_84047054del, NC_000016.9:g.84047049_84047054del, NC_000016.9:g.84047050_84047054del, NC_000016.9:g.84047051_84047054del, NC_000016.9:g.84047052_84047054del, NC_000016.9:g.84047053_84047054del, NC_000016.9:g.84047054del, NC_000016.9:g.84047054dup, NC_000016.9:g.84047053_84047054dup, NC_000016.9:g.84047052_84047054dup, NC_000016.9:g.84047051_84047054dup, NC_000016.9:g.84047050_84047054dup, NC_000016.9:g.84047049_84047054dup, NC_000016.9:g.84047048_84047054dup, NC_000016.9:g.84047047_84047054dup, NC_000016.9:g.84047046_84047054dup, NC_000016.9:g.84047045_84047054dup, NC_000016.9:g.84047044_84047054dup, NC_000016.9:g.84047042_84047054dup, NC_000016.9:g.84047040_84047054dup, NC_000016.9:g.84047054_84047055insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034136.1:g.33721_33733del, NG_034136.1:g.33722_33733del, NG_034136.1:g.33723_33733del, NG_034136.1:g.33724_33733del, NG_034136.1:g.33725_33733del, NG_034136.1:g.33727_33733del, NG_034136.1:g.33728_33733del, NG_034136.1:g.33729_33733del, NG_034136.1:g.33730_33733del, NG_034136.1:g.33731_33733del, NG_034136.1:g.33732_33733del, NG_034136.1:g.33733del, NG_034136.1:g.33733dup, NG_034136.1:g.33732_33733dup, NG_034136.1:g.33731_33733dup, NG_034136.1:g.33730_33733dup, NG_034136.1:g.33729_33733dup, NG_034136.1:g.33728_33733dup, NG_034136.1:g.33727_33733dup, NG_034136.1:g.33726_33733dup, NG_034136.1:g.33725_33733dup, NG_034136.1:g.33724_33733dup, NG_034136.1:g.33723_33733dup, NG_034136.1:g.33721_33733dup, NG_034136.1:g.33719_33733dup, NG_034136.1:g.33733_33734insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      3.

      rs1491251762 has merged into rs1555556895 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GA>-,GAGA,GAGAGA [Show Flanks]
        Chromosome:
        16:84037775 (GRCh38)
        16:84071380 (GRCh37)
        Canonical SPDI:
        NC_000016.10:84037771:AGAGA:AGA,NC_000016.10:84037771:AGAGA:AGAGAGA,NC_000016.10:84037771:AGAGA:AGAGAGAGA
        Gene:
        SLC38A8 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AGAGAGA=0./0 (ALFA)
        AG=0.00546/10 (Korea1K)
        AG=0.01055/177 (TOMMO)
        HGVS:
        4.

        rs1491225960 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->CG,GG,TG [Show Flanks]
          Chromosome:
          16:84037772 (GRCh38)
          16:84071378 (GRCh37)
          Canonical SPDI:
          NC_000016.10:84037772:G:GCG,NC_000016.10:84037772:G:GGG,NC_000016.10:84037772:G:GTG
          Gene:
          SLC38A8 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by cluster
          HGVS:
          5.

          rs1491212071 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TG>- [Show Flanks]
            Chromosome:
            16:84018250 (GRCh38)
            16:84051855 (GRCh37)
            Canonical SPDI:
            NC_000016.10:84018249:TG:
            Gene:
            SLC38A8 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.001096/13 (ALFA)
            -=0.000065/8 (GnomAD)
            HGVS:
            6.

            rs1491102812 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->G,GG,GTG [Show Flanks]
              Chromosome:
              16:84013425 (GRCh38)
              16:84047031 (GRCh37)
              Canonical SPDI:
              NC_000016.10:84013425::G,NC_000016.10:84013425::GG,NC_000016.10:84013425::GTG
              Gene:
              SLC38A8 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GG=0./0 (ALFA)
              G=0.00049/11 (TOMMO)
              G=0.00143/55 (GnomAD)
              HGVS:
              7.

              rs1491050958 has merged into rs376247461 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                16:84037817 (GRCh38)
                16:84071422 (GRCh37)
                Canonical SPDI:
                NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:84037806:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                SLC38A8 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTT=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                NC_000016.10:g.84037817_84037825del, NC_000016.10:g.84037819_84037825del, NC_000016.10:g.84037821_84037825del, NC_000016.10:g.84037822_84037825del, NC_000016.10:g.84037823_84037825del, NC_000016.10:g.84037824_84037825del, NC_000016.10:g.84037825del, NC_000016.10:g.84037825dup, NC_000016.10:g.84037824_84037825dup, NC_000016.10:g.84037823_84037825dup, NC_000016.10:g.84037822_84037825dup, NC_000016.10:g.84037821_84037825dup, NC_000016.10:g.84037820_84037825dup, NC_000016.10:g.84037819_84037825dup, NC_000016.10:g.84037818_84037825dup, NC_000016.10:g.84037817_84037825dup, NC_000016.10:g.84037816_84037825dup, NC_000016.10:g.84037815_84037825dup, NC_000016.10:g.84037814_84037825dup, NC_000016.10:g.84037813_84037825dup, NC_000016.10:g.84037809_84037825dup, NC_000016.9:g.84071422_84071430del, NC_000016.9:g.84071424_84071430del, NC_000016.9:g.84071426_84071430del, NC_000016.9:g.84071427_84071430del, NC_000016.9:g.84071428_84071430del, NC_000016.9:g.84071429_84071430del, NC_000016.9:g.84071430del, NC_000016.9:g.84071430dup, NC_000016.9:g.84071429_84071430dup, NC_000016.9:g.84071428_84071430dup, NC_000016.9:g.84071427_84071430dup, NC_000016.9:g.84071426_84071430dup, NC_000016.9:g.84071425_84071430dup, NC_000016.9:g.84071424_84071430dup, NC_000016.9:g.84071423_84071430dup, NC_000016.9:g.84071422_84071430dup, NC_000016.9:g.84071421_84071430dup, NC_000016.9:g.84071420_84071430dup, NC_000016.9:g.84071419_84071430dup, NC_000016.9:g.84071418_84071430dup, NC_000016.9:g.84071414_84071430dup, NG_034136.1:g.9343_9351del, NG_034136.1:g.9345_9351del, NG_034136.1:g.9347_9351del, NG_034136.1:g.9348_9351del, NG_034136.1:g.9349_9351del, NG_034136.1:g.9350_9351del, NG_034136.1:g.9351del, NG_034136.1:g.9351dup, NG_034136.1:g.9350_9351dup, NG_034136.1:g.9349_9351dup, NG_034136.1:g.9348_9351dup, NG_034136.1:g.9347_9351dup, NG_034136.1:g.9346_9351dup, NG_034136.1:g.9345_9351dup, NG_034136.1:g.9344_9351dup, NG_034136.1:g.9343_9351dup, NG_034136.1:g.9342_9351dup, NG_034136.1:g.9341_9351dup, NG_034136.1:g.9340_9351dup, NG_034136.1:g.9339_9351dup, NG_034136.1:g.9335_9351dup
                8.

                rs1490957165 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  16:84012877 (GRCh38)
                  16:84046482 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:84012876:G:A,NC_000016.10:84012876:G:T
                  Gene:
                  SLC38A8 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490916638 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    16:84017830 (GRCh38)
                    16:84051435 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:84017829:G:C
                    Gene:
                    SLC38A8 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490820541 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      T>- [Show Flanks]
                      Chromosome:
                      16:84032796 (GRCh38)
                      16:84066401 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:84032795:TT:T
                      Gene:
                      SLC38A8 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TT=0./0 (ALFA)
                      -=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490709851 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        16:84042314 (GRCh38)
                        16:84075919 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:84042313:G:A
                        Gene:
                        SLC38A8 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000014/2 (GnomAD)
                        A=0.000019/5 (TOPMED)
                        HGVS:
                        12.

                        rs1490694706 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          16:84015945 (GRCh38)
                          16:84049550 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:84015944:C:G,NC_000016.10:84015944:C:T
                          Gene:
                          SLC38A8 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000026/7 (TOPMED)
                          HGVS:
                          13.

                          rs1490664319 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            16:84025194 (GRCh38)
                            16:84058799 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:84025193:T:G
                            Gene:
                            SLC38A8 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490634890 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              16:84039747 (GRCh38)
                              16:84073352 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:84039746:A:C
                              Gene:
                              SLC38A8 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.10875/1290 (ALFA)
                              C=0.01079/6 (NorthernSweden)
                              C=0.04661/136 (KOREAN)
                              C=0.26318/3582 (TOMMO)
                              A=0.5/10 (SGDP_PRJ)
                              HGVS:
                              15.

                              rs1490592979 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                16:84017199 (GRCh38)
                                16:84050804 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:84017198:G:A,NC_000016.10:84017198:G:C
                                Gene:
                                SLC38A8 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000054/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                A=0.000223/1 (Estonian)
                                HGVS:
                                16.

                                rs1490589024 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  16:84022430 (GRCh38)
                                  16:84056035 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:84022429:A:C
                                  Gene:
                                  SLC38A8 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490546666 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    16:84015306 (GRCh38)
                                    16:84048911 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:84015305:A:G
                                    Gene:
                                    SLC38A8 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490529835 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      16:84015708 (GRCh38)
                                      16:84049313 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:84015707:T:A
                                      Gene:
                                      SLC38A8 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000019/5 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490434326 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        16:84028641 (GRCh38)
                                        16:84062246 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:84028640:T:G
                                        Gene:
                                        SLC38A8 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1490422436 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G [Show Flanks]
                                          Chromosome:
                                          16:84017347 (GRCh38)
                                          16:84050952 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:84017346:C:A,NC_000016.10:84017346:C:G
                                          Gene:
                                          SLC38A8 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000054/1 (ALFA)
                                          A=0.000026/7 (TOPMED)
                                          A=0.000029/4 (GnomAD)
                                          A=0.000223/1 (Estonian)
                                          G=0.004673/1 (Vietnamese)
                                          HGVS:

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