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Items: 1 to 20 of 42618

1.

rs1491580353 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    3:185772578 (GRCh38)
    3:185490367 (GRCh37)
    Canonical SPDI:
    NC_000003.12:185772578::C
    Gene:
    IGF2BP2 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.00025/3 (ALFA)
    HGVS:

    2.

    rs1491551470 has merged into rs57417087 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      3:185757471 (GRCh38)
      3:185475259 (GRCh37)
      Canonical SPDI:
      NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185757459:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      IGF2BP2 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000003.12:g.185757471_185757482del, NC_000003.12:g.185757472_185757482del, NC_000003.12:g.185757473_185757482del, NC_000003.12:g.185757474_185757482del, NC_000003.12:g.185757475_185757482del, NC_000003.12:g.185757476_185757482del, NC_000003.12:g.185757477_185757482del, NC_000003.12:g.185757478_185757482del, NC_000003.12:g.185757479_185757482del, NC_000003.12:g.185757480_185757482del, NC_000003.12:g.185757481_185757482del, NC_000003.12:g.185757482del, NC_000003.12:g.185757482dup, NC_000003.12:g.185757481_185757482dup, NC_000003.12:g.185757480_185757482dup, NC_000003.12:g.185757479_185757482dup, NC_000003.12:g.185757478_185757482dup, NC_000003.12:g.185757477_185757482dup, NC_000003.12:g.185757476_185757482dup, NC_000003.12:g.185757475_185757482dup, NC_000003.12:g.185757471_185757482dup, NC_000003.12:g.185757482_185757483insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.185757482_185757483insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.185757482_185757483insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.185475259_185475270del, NC_000003.11:g.185475260_185475270del, NC_000003.11:g.185475261_185475270del, NC_000003.11:g.185475262_185475270del, NC_000003.11:g.185475263_185475270del, NC_000003.11:g.185475264_185475270del, NC_000003.11:g.185475265_185475270del, NC_000003.11:g.185475266_185475270del, NC_000003.11:g.185475267_185475270del, NC_000003.11:g.185475268_185475270del, NC_000003.11:g.185475269_185475270del, NC_000003.11:g.185475270del, NC_000003.11:g.185475270dup, NC_000003.11:g.185475269_185475270dup, NC_000003.11:g.185475268_185475270dup, NC_000003.11:g.185475267_185475270dup, NC_000003.11:g.185475266_185475270dup, NC_000003.11:g.185475265_185475270dup, NC_000003.11:g.185475264_185475270dup, NC_000003.11:g.185475263_185475270dup, NC_000003.11:g.185475259_185475270dup, NC_000003.11:g.185475270_185475271insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.185475270_185475271insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.185475270_185475271insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011602.1:g.72569_72580del, NG_011602.1:g.72570_72580del, NG_011602.1:g.72571_72580del, NG_011602.1:g.72572_72580del, NG_011602.1:g.72573_72580del, NG_011602.1:g.72574_72580del, NG_011602.1:g.72575_72580del, NG_011602.1:g.72576_72580del, NG_011602.1:g.72577_72580del, NG_011602.1:g.72578_72580del, NG_011602.1:g.72579_72580del, NG_011602.1:g.72580del, NG_011602.1:g.72580dup, NG_011602.1:g.72579_72580dup, NG_011602.1:g.72578_72580dup, NG_011602.1:g.72577_72580dup, NG_011602.1:g.72576_72580dup, NG_011602.1:g.72575_72580dup, NG_011602.1:g.72574_72580dup, NG_011602.1:g.72573_72580dup, NG_011602.1:g.72569_72580dup, NG_011602.1:g.72580_72581insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011602.1:g.72580_72581insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011602.1:g.72580_72581insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

      3.

      rs1491543380 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GG>- [Show Flanks]
        Chromosome:
        3:185677019 (GRCh38)
        3:185394807 (GRCh37)
        Canonical SPDI:
        NC_000003.12:185677018:GG:
        Gene:
        IGF2BP2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00008/1 (ALFA)
        -=0.00001/1 (GnomAD)
        -=0.0005/14 (TOMMO)
        HGVS:

        4.

        rs1491526290 has merged into rs368068706 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          3:185772585 (GRCh38)
          3:185490373 (GRCh37)
          Canonical SPDI:
          NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:185772577:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          IGF2BP2 (Varview)
          Functional Consequence:
          intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTT=0./0 (ALFA)
          HGVS:
          NC_000003.12:g.185772585_185772599del, NC_000003.12:g.185772587_185772599del, NC_000003.12:g.185772588_185772599del, NC_000003.12:g.185772589_185772599del, NC_000003.12:g.185772590_185772599del, NC_000003.12:g.185772591_185772599del, NC_000003.12:g.185772592_185772599del, NC_000003.12:g.185772593_185772599del, NC_000003.12:g.185772594_185772599del, NC_000003.12:g.185772596_185772599del, NC_000003.12:g.185772597_185772599del, NC_000003.12:g.185772598_185772599del, NC_000003.12:g.185772599del, NC_000003.12:g.185772599dup, NC_000003.12:g.185772598_185772599dup, NC_000003.12:g.185772597_185772599dup, NC_000003.12:g.185772596_185772599dup, NC_000003.12:g.185772595_185772599dup, NC_000003.12:g.185772593_185772599dup, NC_000003.12:g.185772592_185772599dup, NC_000003.12:g.185772590_185772599dup, NC_000003.12:g.185772583_185772599dup, NC_000003.11:g.185490373_185490387del, NC_000003.11:g.185490375_185490387del, NC_000003.11:g.185490376_185490387del, NC_000003.11:g.185490377_185490387del, NC_000003.11:g.185490378_185490387del, NC_000003.11:g.185490379_185490387del, NC_000003.11:g.185490380_185490387del, NC_000003.11:g.185490381_185490387del, NC_000003.11:g.185490382_185490387del, NC_000003.11:g.185490384_185490387del, NC_000003.11:g.185490385_185490387del, NC_000003.11:g.185490386_185490387del, NC_000003.11:g.185490387del, NC_000003.11:g.185490387dup, NC_000003.11:g.185490386_185490387dup, NC_000003.11:g.185490385_185490387dup, NC_000003.11:g.185490384_185490387dup, NC_000003.11:g.185490383_185490387dup, NC_000003.11:g.185490381_185490387dup, NC_000003.11:g.185490380_185490387dup, NC_000003.11:g.185490378_185490387dup, NC_000003.11:g.185490371_185490387dup, NG_011602.1:g.57448_57462del, NG_011602.1:g.57450_57462del, NG_011602.1:g.57451_57462del, NG_011602.1:g.57452_57462del, NG_011602.1:g.57453_57462del, NG_011602.1:g.57454_57462del, NG_011602.1:g.57455_57462del, NG_011602.1:g.57456_57462del, NG_011602.1:g.57457_57462del, NG_011602.1:g.57459_57462del, NG_011602.1:g.57460_57462del, NG_011602.1:g.57461_57462del, NG_011602.1:g.57462del, NG_011602.1:g.57462dup, NG_011602.1:g.57461_57462dup, NG_011602.1:g.57460_57462dup, NG_011602.1:g.57459_57462dup, NG_011602.1:g.57458_57462dup, NG_011602.1:g.57456_57462dup, NG_011602.1:g.57455_57462dup, NG_011602.1:g.57453_57462dup, NG_011602.1:g.57446_57462dup

          5.

          rs1491460809 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->T [Show Flanks]
            Chromosome:
            3:185701366 (GRCh38)
            3:185419155 (GRCh37)
            Canonical SPDI:
            NC_000003.12:185701366:T:TT
            Gene:
            IGF2BP2 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            TT=0./0 (ALFA)
            T=0.00001/1 (GnomAD)
            HGVS:

            6.

            rs1491456750 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->C [Show Flanks]
              Chromosome:
              3:185798794 (GRCh38)
              3:185516583 (GRCh37)
              Canonical SPDI:
              NC_000003.12:185798794:C:CC
              Gene:
              IGF2BP2 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              CC=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1491443593 has merged into rs59832641 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GG>-,G,GGG,GGGG [Show Flanks]
                Chromosome:
                3:185680839 (GRCh38)
                3:185398627 (GRCh37)
                Canonical SPDI:
                NC_000003.12:185680832:GGGGGGGG:GGGGGG,NC_000003.12:185680832:GGGGGGGG:GGGGGGG,NC_000003.12:185680832:GGGGGGGG:GGGGGGGGG,NC_000003.12:185680832:GGGGGGGG:GGGGGGGGGG
                Gene:
                IGF2BP2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GGGGGGGGG=0./0 (ALFA)
                G=0.000071/1 (TOMMO)
                G=0.000546/1 (Korea1K)
                G=0.009994/64 (1000Genomes)
                G=0.018333/11 (NorthernSweden)
                G=0.022067/5841 (TOPMED)
                G=0.023438/105 (Estonian)
                G=0.024002/89 (TWINSUK)
                G=0.025/1 (GENOME_DK)
                G=0.026207/101 (ALSPAC)
                G=0.03006/30 (GoNL)
                HGVS:

                8.

                rs1491443229 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  3:185810783 (GRCh38)
                  3:185528571 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:185810781:ACA:A
                  Gene:
                  IGF2BP2 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  -=0.000189/24 (GnomAD)
                  HGVS:

                  9.

                  rs1491426221 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->A [Show Flanks]
                    Chromosome:
                    3:185827726 (GRCh38)
                    3:185545515 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:185827726:A:AA
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AA=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1491421828 has merged into rs1164588813 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATGGAGATATATATATATATATATATATATATA [Show Flanks]
                      Chromosome:
                      3:185677046 (GRCh38)
                      3:185394834 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:185677044:ATATATATATATATATATATATATA:A,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000003.12:185677044:ATATATATATATATATATATATATA:ATATATATATATATATATATATATATATGGAGATATATATATATATATATATATATATA
                      Gene:
                      IGF2BP2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ATATATATA=0./0 (ALFA)
                      HGVS:
                      NC_000003.12:g.185677046_185677069del, NC_000003.12:g.185677046TA[1], NC_000003.12:g.185677046TA[2], NC_000003.12:g.185677046TA[3], NC_000003.12:g.185677046TA[4], NC_000003.12:g.185677046TA[5], NC_000003.12:g.185677046TA[6], NC_000003.12:g.185677046TA[7], NC_000003.12:g.185677046TA[8], NC_000003.12:g.185677046TA[9], NC_000003.12:g.185677046TA[10], NC_000003.12:g.185677046TA[11], NC_000003.12:g.185677046TA[13], NC_000003.12:g.185677046TA[14], NC_000003.12:g.185677046TA[15], NC_000003.12:g.185677046TA[16], NC_000003.12:g.185677046TA[17], NC_000003.12:g.185677046TA[18], NC_000003.12:g.185677046TA[19], NC_000003.12:g.185677046TA[20], NC_000003.12:g.185677046TA[21], NC_000003.12:g.185677046TA[22], NC_000003.12:g.185677046TA[23], NC_000003.12:g.185677046TA[24], NC_000003.12:g.185677046TA[25], NC_000003.12:g.185677046TA[26], NC_000003.12:g.185677046TA[28], NC_000003.12:g.185677045_185677069AT[14]GGAGATATATATATATATATATATATATATA[1], NC_000003.11:g.185394834_185394857del, NC_000003.11:g.185394834TA[1], NC_000003.11:g.185394834TA[2], NC_000003.11:g.185394834TA[3], NC_000003.11:g.185394834TA[4], NC_000003.11:g.185394834TA[5], NC_000003.11:g.185394834TA[6], NC_000003.11:g.185394834TA[7], NC_000003.11:g.185394834TA[8], NC_000003.11:g.185394834TA[9], NC_000003.11:g.185394834TA[10], NC_000003.11:g.185394834TA[11], NC_000003.11:g.185394834TA[13], NC_000003.11:g.185394834TA[14], NC_000003.11:g.185394834TA[15], NC_000003.11:g.185394834TA[16], NC_000003.11:g.185394834TA[17], NC_000003.11:g.185394834TA[18], NC_000003.11:g.185394834TA[19], NC_000003.11:g.185394834TA[20], NC_000003.11:g.185394834TA[21], NC_000003.11:g.185394834TA[22], NC_000003.11:g.185394834TA[23], NC_000003.11:g.185394834TA[24], NC_000003.11:g.185394834TA[25], NC_000003.11:g.185394834TA[26], NC_000003.11:g.185394834TA[28], NC_000003.11:g.185394833_185394857AT[14]GGAGATATATATATATATATATATATATATA[1], NG_011602.1:g.152972_152995del, NG_011602.1:g.152972AT[1], NG_011602.1:g.152972AT[2], NG_011602.1:g.152972AT[3], NG_011602.1:g.152972AT[4], NG_011602.1:g.152972AT[5], NG_011602.1:g.152972AT[6], NG_011602.1:g.152972AT[7], NG_011602.1:g.152972AT[8], NG_011602.1:g.152972AT[9], NG_011602.1:g.152972AT[10], NG_011602.1:g.152972AT[11], NG_011602.1:g.152972AT[13], NG_011602.1:g.152972AT[14], NG_011602.1:g.152972AT[15], NG_011602.1:g.152972AT[16], NG_011602.1:g.152972AT[17], NG_011602.1:g.152972AT[18], NG_011602.1:g.152972AT[19], NG_011602.1:g.152972AT[20], NG_011602.1:g.152972AT[21], NG_011602.1:g.152972AT[22], NG_011602.1:g.152972AT[23], NG_011602.1:g.152972AT[24], NG_011602.1:g.152972AT[25], NG_011602.1:g.152972AT[26], NG_011602.1:g.152972AT[28], NG_011602.1:g.152971_152995TA[13]TC[2]CATATATATATATATATATATATATATAT[1]

                      11.

                      rs1491414680 has merged into rs955422439 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CCCC>-,CC,CCCCCC [Show Flanks]
                        Chromosome:
                        3:185811879 (GRCh38)
                        3:185529667 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:185811877:CCCCC:C,NC_000003.12:185811877:CCCCC:CCC,NC_000003.12:185811877:CCCCC:CCCCCCC
                        Gene:
                        IGF2BP2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CCC=0./0 (ALFA)
                        CC=0.00039/7 (TOMMO)
                        HGVS:

                        12.

                        rs1491411473 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TG>- [Show Flanks]
                          Chromosome:
                          3:185757482 (GRCh38)
                          3:185475270 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:185757481:TG:
                          Gene:
                          IGF2BP2 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1491394053 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA [Show Flanks]
                            Chromosome:
                            3:185677042 (GRCh38)
                            3:185394831 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:185677042:A:ATA,NC_000003.12:185677042:A:ATATA,NC_000003.12:185677042:A:ATATATA,NC_000003.12:185677042:A:ATATATATA,NC_000003.12:185677042:A:ATATATATATA,NC_000003.12:185677042:A:ATATATATATATA,NC_000003.12:185677042:A:ATATATATATATATA,NC_000003.12:185677042:A:ATATATATATATATATA
                            Gene:
                            IGF2BP2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            ATATATA=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1491387804 has merged into rs1343452873 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GA>-,GAGA [Show Flanks]
                              Chromosome:
                              3:185800722 (GRCh38)
                              3:185518510 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:185800720:AGA:A,NC_000003.12:185800720:AGA:AGAGA
                              Gene:
                              IGF2BP2 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000123/2 (ALFA)
                              AG=0.000004/1 (TOPMED)
                              -=0.000114/15 (GnomAD)
                              -=0.001134/32 (TOMMO)
                              -=0.083809/323 (ALSPAC)
                              -=0.088727/329 (TWINSUK)
                              HGVS:

                              15.

                              rs1491385189 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                A>-,AA [Show Flanks]
                                Chromosome:
                                3:185731046 (GRCh38)
                                3:185448834 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:185731045:AAAAAAA:AAAAAA,NC_000003.12:185731045:AAAAAAA:AAAAAAAA
                                Gene:
                                IGF2BP2 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAA=0./0 (ALFA)
                                -=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1491372316 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->A [Show Flanks]
                                  Chromosome:
                                  3:185675032 (GRCh38)
                                  3:185392821 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:185675032:A:AA
                                  Gene:
                                  IGF2BP2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AA=0./0 (ALFA)
                                  A=0.000149/17 (GnomAD)
                                  A=0.000214/4 (TOMMO)
                                  HGVS:

                                  17.

                                  rs1491320889 has merged into rs747454214 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GAGA>-,GA,GAGAGA [Show Flanks]
                                    Chromosome:
                                    3:185677024 (GRCh38)
                                    3:185394812 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:185677019:GAGAGAGA:GAGA,NC_000003.12:185677019:GAGAGAGA:GAGAGA,NC_000003.12:185677019:GAGAGAGA:GAGAGAGAGA
                                    Gene:
                                    IGF2BP2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GAGAGAGAGA=0./0 (ALFA)
                                    GA=0.32353/11 (GENOME_DK)
                                    -=0.33148/5488 (TOMMO)
                                    HGVS:

                                    18.

                                    rs1491280222 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      GT>-
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:

                                      19.

                                      rs1491278636 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        TA>- [Show Flanks]
                                        Chromosome:
                                        3:185808117 (GRCh38)
                                        3:185525905 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:185808116:TA:
                                        Gene:
                                        IGF2BP2 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0.00025/3 (ALFA)
                                        HGVS:

                                        20.

                                        rs1491276987 has merged into rs1188624871 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
                                          Chromosome:
                                          3:185808124 (GRCh38)
                                          3:185525912 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:185808117:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000003.12:185808117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:185808117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:185808117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:185808117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:185808117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:185808117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:185808117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:185808117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:185808117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:185808117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:185808117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
                                          Gene:
                                          IGF2BP2 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAAAA=0./0 (ALFA)
                                          -=0.00003/8 (TOPMED)
                                          HGVS:
                                          NC_000003.12:g.185808124_185808135del, NC_000003.12:g.185808128_185808135del, NC_000003.12:g.185808129_185808135del, NC_000003.12:g.185808130_185808135del, NC_000003.12:g.185808131_185808135del, NC_000003.12:g.185808132_185808135del, NC_000003.12:g.185808133_185808135del, NC_000003.12:g.185808134_185808135del, NC_000003.12:g.185808135del, NC_000003.12:g.185808135dup, NC_000003.12:g.185808134_185808135dup, NC_000003.12:g.185808132_185808135dup, NC_000003.11:g.185525912_185525923del, NC_000003.11:g.185525916_185525923del, NC_000003.11:g.185525917_185525923del, NC_000003.11:g.185525918_185525923del, NC_000003.11:g.185525919_185525923del, NC_000003.11:g.185525920_185525923del, NC_000003.11:g.185525921_185525923del, NC_000003.11:g.185525922_185525923del, NC_000003.11:g.185525923del, NC_000003.11:g.185525923dup, NC_000003.11:g.185525922_185525923dup, NC_000003.11:g.185525920_185525923dup, NG_011602.1:g.21911_21922del, NG_011602.1:g.21915_21922del, NG_011602.1:g.21916_21922del, NG_011602.1:g.21917_21922del, NG_011602.1:g.21918_21922del, NG_011602.1:g.21919_21922del, NG_011602.1:g.21920_21922del, NG_011602.1:g.21921_21922del, NG_011602.1:g.21922del, NG_011602.1:g.21922dup, NG_011602.1:g.21921_21922dup, NG_011602.1:g.21919_21922dup

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