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Items: 1 to 20 of 1000

1.

rs1491505269 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    6:169714637 (GRCh38)
    6:170114733 (GRCh37)
    Canonical SPDI:
    NC_000006.12:169714634:ATAT:AT
    Gene:
    PHF10 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATAT=0./0 (ALFA)
    -=0.000007/1 (GnomAD)
    -=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1491405595 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TTAT [Show Flanks]
      Chromosome:
      6:169709843 (GRCh38)
      6:170109940 (GRCh37)
      Canonical SPDI:
      NC_000006.12:169709843:TTTAT:TTTATTTAT
      Gene:
      PHF10 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTATTTAT=0./0 (ALFA)
      TTTA=0.000004/1 (TOPMED)
      TTTA=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1491148749 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        6:169709843 (GRCh38)
        6:170109939 (GRCh37)
        Canonical SPDI:
        NC_000006.12:169709842:CT:
        Gene:
        PHF10 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490968995 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          6:169722834 (GRCh38)
          6:170122930 (GRCh37)
          Canonical SPDI:
          NC_000006.12:169722833:G:A
          Gene:
          PHF10 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          5.

          rs1490953137 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:169721543 (GRCh38)
            6:170121639 (GRCh37)
            Canonical SPDI:
            NC_000006.12:169721542:G:A
            Gene:
            PHF10 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.00003/8 (TOPMED)
            A=0.000035/1 (TOMMO)
            A=0.000036/5 (GnomAD)
            HGVS:
            6.

            rs1490461694 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              6:169722441 (GRCh38)
              6:170122537 (GRCh37)
              Canonical SPDI:
              NC_000006.12:169722440:A:G
              Gene:
              PHF10 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490361797 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G,T [Show Flanks]
                Chromosome:
                6:169715242 (GRCh38)
                6:170115338 (GRCh37)
                Canonical SPDI:
                NC_000006.12:169715241:A:G,NC_000006.12:169715241:A:T
                Gene:
                PHF10 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                8.

                rs1490215248 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  6:169714672 (GRCh38)
                  6:170114768 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:169714671:A:C
                  Gene:
                  PHF10 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000008/2 (TOPMED)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1490152838 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    6:169722455 (GRCh38)
                    6:170122551 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:169722454:A:G
                    Gene:
                    PHF10 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1490058527 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:169706486 (GRCh38)
                      6:170106582 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:169706485:C:T
                      Gene:
                      PHF10 (Varview), C6orf120 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,500B_downstream_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)
                      T=0.000035/1 (TOMMO)
                      HGVS:
                      11.

                      rs1489933663 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        6:169720290 (GRCh38)
                        6:170120386 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:169720289:A:G
                        Gene:
                        PHF10 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        13.

                        rs1489679104 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          6:169708221 (GRCh38)
                          6:170108317 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:169708220:A:G
                          Gene:
                          PHF10 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000021/3 (GnomAD)
                          HGVS:
                          14.

                          rs1489609324 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            6:169721262 (GRCh38)
                            6:170121358 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:169721261:A:G
                            Gene:
                            PHF10 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            HGVS:
                            15.

                            rs1489597614 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              6:169705097 (GRCh38)
                              6:170105193 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:169705096:C:T
                              Gene:
                              PHF10 (Varview), C6orf120 (Varview)
                              Functional Consequence:
                              3_prime_UTR_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)
                              T=0.00001/2 (GnomAD_exomes)
                              HGVS:
                              16.

                              rs1489159216 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                6:169723620 (GRCh38)
                                6:170123716 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:169723619:G:A
                                Gene:
                                PHF10 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                17.

                                rs1489056839 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TT>- [Show Flanks]
                                  Chromosome:
                                  6:169713274 (GRCh38)
                                  6:170113370 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:169713271:TTTT:TT
                                  Gene:
                                  PHF10 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTT=0./0 (ALFA)
                                  -=0.000011/3 (TOPMED)
                                  -=0.000021/3 (GnomAD)
                                  -=0.000035/1 (TOMMO)
                                  HGVS:
                                  18.

                                  rs1488957582 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:169725146 (GRCh38)
                                    6:170125242 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:169725145:G:A
                                    Gene:
                                    DYNLT2 (Varview), PHF10 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    19.

                                    rs1488841100 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTATT>- [Show Flanks]
                                      Chromosome:
                                      6:169717724 (GRCh38)
                                      6:170117820 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:169717717:TTTATTTTATT:TTTATT
                                      Gene:
                                      PHF10 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTATT=0.000071/1 (ALFA)
                                      -=0.000011/3 (TOPMED)
                                      -=0.000036/5 (GnomAD)
                                      -=0.003333/2 (NorthernSweden)
                                      HGVS:
                                      20.

                                      rs1488806599 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        6:169724118 (GRCh38)
                                        6:170124214 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:169724117:C:G,NC_000006.12:169724117:C:T
                                        Gene:
                                        PHF10 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/1 (GnomAD)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:

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