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Items: 1 to 20 of 28165

1.

rs1491503247 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TTA [Show Flanks]
    Chromosome:
    12:82435024 (GRCh38)
    12:82828804 (GRCh37)
    Canonical SPDI:
    NC_000012.12:82435024:TTA:TTATTA
    Gene:
    METTL25 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTATTA=0./0 (ALFA)
    TTA=0.000007/1 (GnomAD)
    TTA=0.000011/3 (TOPMED)
    HGVS:
    2.

    rs1491481856 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      12:82461260 (GRCh38)
      12:82855039 (GRCh37)
      Canonical SPDI:
      NC_000012.12:82461254:TATATAT:TATAT
      Gene:
      METTL25 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATAT=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1491447131 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        12:82381473 (GRCh38)
        12:82775252 (GRCh37)
        Canonical SPDI:
        NC_000012.12:82381472:AT:
        Gene:
        METTL25 (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:
        4.

        rs1491333930 has merged into rs144093930 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAA>-,A,AA,AAAA [Show Flanks]
          Chromosome:
          12:82375451 (GRCh38)
          12:82769230 (GRCh37)
          Canonical SPDI:
          NC_000012.12:82375442:AAAAAAAAAAA:AAAAAAAA,NC_000012.12:82375442:AAAAAAAAAAA:AAAAAAAAA,NC_000012.12:82375442:AAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:82375442:AAAAAAAAAAA:AAAAAAAAAAAA
          Gene:
          METTL25 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAA=0./0 (ALFA)
          A=0.000071/1 (TOMMO)
          A=0.00173/2 (Korea1K)
          -=0.025/1 (GENOME_DK)
          -=0.056338/16 (NorthernSweden)
          -=0.0646/17099 (TOPMED)
          HGVS:
          5.

          rs1491326063 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->A [Show Flanks]
            Chromosome:
            12:82461255 (GRCh38)
            12:82855035 (GRCh37)
            Canonical SPDI:
            NC_000012.12:82461255:A:AA
            Gene:
            METTL25 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AA=0./0 (ALFA)
            A=0.000011/3 (TOPMED)
            A=0.000014/2 (GnomAD)
            HGVS:
            6.

            rs1491307595 has merged into rs60688459 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
              Chromosome:
              12:82429388 (GRCh38)
              12:82823167 (GRCh37)
              Canonical SPDI:
              NC_000012.12:82429376:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:82429376:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:82429376:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:82429376:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:82429376:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:82429376:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
              Gene:
              METTL25 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTT=0.0125/55 (ALFA)
              TT=0.0505/253 (1000Genomes)
              HGVS:
              7.

              rs1491251891 has merged into rs72397374 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GT>-,GTGT [Show Flanks]
                Chromosome:
                12:82380435 (GRCh38)
                12:82774214 (GRCh37)
                Canonical SPDI:
                NC_000012.12:82380433:TGT:T,NC_000012.12:82380433:TGT:TGTGT
                Gene:
                METTL25 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TGT=0.0625/359 (ALFA)
                TG=0.004/67 (TOMMO)
                TG=0.00943/2 (Vietnamese)
                TG=0.02305/23 (GoNL)
                TG=0.02667/16 (NorthernSweden)
                TG=0.02879/129 (Estonian)
                TG=0.0445/165 (TWINSUK)
                TG=0.04567/176 (ALSPAC)
                TG=0.05/2 (GENOME_DK)
                HGVS:
                8.

                rs1491197638 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GA>- [Show Flanks]
                  Chromosome:
                  12:82375442 (GRCh38)
                  12:82769221 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:82375441:GA:
                  Gene:
                  METTL25 (Varview)
                  Functional Consequence:
                  intron_variant
                  HGVS:
                  9.

                  rs1491194510 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    CT>-
                    Chromosome:
                    no mapping
                    Canonical SPDI:
                    10.

                    rs1491177490 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      GT>- [Show Flanks]
                      Chromosome:
                      12:82429376 (GRCh38)
                      12:82823155 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:82429375:GT:
                      Gene:
                      METTL25 (Varview)
                      Functional Consequence:
                      intron_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.00017/2 (ALFA)
                      HGVS:
                      11.

                      rs1491076788 has merged into rs58370071 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        12:82438526 (GRCh38)
                        12:82832305 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:82438512:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        METTL25 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
                        -=0.25/10 (GENOME_DK)
                        HGVS:
                        NC_000012.12:g.82438526_82438527del, NC_000012.12:g.82438527del, NC_000012.12:g.82438527dup, NC_000012.12:g.82438526_82438527dup, NC_000012.12:g.82438525_82438527dup, NC_000012.12:g.82438521_82438527dup, NC_000012.12:g.82438519_82438527dup, NC_000012.12:g.82438516_82438527dup, NC_000012.12:g.82438514_82438527dup, NC_000012.12:g.82438527_82438528insTTTTTTTTTTTTTTTTTT, NC_000012.11:g.82832305_82832306del, NC_000012.11:g.82832306del, NC_000012.11:g.82832306dup, NC_000012.11:g.82832305_82832306dup, NC_000012.11:g.82832304_82832306dup, NC_000012.11:g.82832300_82832306dup, NC_000012.11:g.82832298_82832306dup, NC_000012.11:g.82832295_82832306dup, NC_000012.11:g.82832293_82832306dup, NC_000012.11:g.82832306_82832307insTTTTTTTTTTTTTTTTTT, NG_053173.2:g.85121_85122del, NG_053173.2:g.85122del, NG_053173.2:g.85122dup, NG_053173.2:g.85121_85122dup, NG_053173.2:g.85120_85122dup, NG_053173.2:g.85116_85122dup, NG_053173.2:g.85114_85122dup, NG_053173.2:g.85111_85122dup, NG_053173.2:g.85109_85122dup, NG_053173.2:g.85122_85123insTTTTTTTTTTTTTTTTTT
                        12.

                        rs1491076504 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AT>- [Show Flanks]
                          Chromosome:
                          12:82375461 (GRCh38)
                          12:82769240 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:82375452:ATATATATAT:ATATATAT
                          Gene:
                          METTL25 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          ATATATAT=0.000253/3 (ALFA)
                          -=0.000351/49 (GnomAD)
                          HGVS:
                          13.

                          rs1491071781 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GT>- [Show Flanks]
                            Chromosome:
                            12:82384397 (GRCh38)
                            12:82778176 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:82384395:TGT:T
                            Gene:
                            METTL25 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.00008/1 (ALFA)
                            -=0.00019/17 (GnomAD)
                            HGVS:
                            14.

                            rs1491058723 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CT>-,CTCT [Show Flanks]
                              Chromosome:
                              12:82387734 (GRCh38)
                              12:82781513 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:82387731:CTCT:CT,NC_000012.12:82387731:CTCT:CTCTCT
                              Gene:
                              METTL25 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CTCT=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1491057748 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                ->AAAAAAAA
                                Chromosome:
                                no mapping
                                Canonical SPDI:
                                16.

                                rs1490981469 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  12:82374809 (GRCh38)
                                  12:82768588 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:82374808:C:G
                                  Gene:
                                  METTL25 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:
                                  17.

                                  rs1490967589 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    12:82469489 (GRCh38)
                                    12:82863268 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:82469488:T:G
                                    Gene:
                                    METTL25 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490948762 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      12:82454567 (GRCh38)
                                      12:82848346 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:82454566:G:A
                                      Gene:
                                      METTL25 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000019/5 (TOPMED)
                                      A=0.000156/1 (1000Genomes)
                                      A=0.000546/1 (Korea1K)
                                      HGVS:
                                      19.

                                      rs1490912887 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        12:82411450 (GRCh38)
                                        12:82805229 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:82411449:G:C
                                        Gene:
                                        METTL25 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490853767 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          12:82437656 (GRCh38)
                                          12:82831435 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:82437655:A:C
                                          Gene:
                                          METTL25 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_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:

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