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Items: 1 to 20 of 1596

1.

rs1491513372 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    19:46341199 (GRCh38)
    19:46844457 (GRCh37)
    Canonical SPDI:
    NC_000019.10:46341199::C
    Gene:
    HIF3A (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000674/8 (ALFA)
    C=0.000072/2 (TOMMO)
    C=0.001826/189 (GnomAD)
    HGVS:
    NC_000019.10:g.46341199_46341200insC, NC_000019.9:g.46844456_46844457insC, NG_029679.1:g.49152_49153insC, NM_152794.4:c.*1577_*1578insC, NM_152794.3:c.*1577_*1578insC, NM_152795.4:c.*1577_*1578insC, NM_152795.3:c.*1577_*1578insC, NM_022462.4:c.*1577_*1578insC, XM_005259152.5:c.*1577_*1578insC, XM_005259152.4:c.*1577_*1578insC, XM_005259152.3:c.*1577_*1578insC, XM_005259152.2:c.*1577_*1578insC, XM_005259152.1:c.*1577_*1578insC, XM_017027132.2:c.*1577_*1578insC, XM_017027132.1:c.*1577_*1578insC, XM_017027135.2:c.*1577_*1578insC, XM_017027135.1:c.*1577_*1578insC, XM_017027134.2:c.*1577_*1578insC, XM_017027134.1:c.*1577_*1578insC, XM_017027141.2:c.*1577_*1578insC, XM_017027141.1:c.*1577_*1578insC, XM_017027140.2:c.*1577_*1578insC, XM_017027140.1:c.*1577_*1578insC, XM_047439216.1:c.*1577_*1578insC, XM_047439217.1:c.*1577_*1578insC

    2.

    rs1491310629 has merged into rs769218297 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      19:46341205 (GRCh38)
      19:46844462 (GRCh37)
      Canonical SPDI:
      NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:46341198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      HIF3A (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTT=0./0 (ALFA)
      -=0.000442/117 (TOPMED)
      -=0.016949/10 (NorthernSweden)
      T=0.325/13 (GENOME_DK)
      HGVS:
      NC_000019.10:g.46341205_46341217del, NC_000019.10:g.46341209_46341217del, NC_000019.10:g.46341210_46341217del, NC_000019.10:g.46341213_46341217del, NC_000019.10:g.46341214_46341217del, NC_000019.10:g.46341215_46341217del, NC_000019.10:g.46341216_46341217del, NC_000019.10:g.46341217del, NC_000019.10:g.46341217dup, NC_000019.10:g.46341216_46341217dup, NC_000019.10:g.46341215_46341217dup, NC_000019.10:g.46341214_46341217dup, NC_000019.10:g.46341213_46341217dup, NC_000019.9:g.46844462_46844474del, NC_000019.9:g.46844466_46844474del, NC_000019.9:g.46844467_46844474del, NC_000019.9:g.46844470_46844474del, NC_000019.9:g.46844471_46844474del, NC_000019.9:g.46844472_46844474del, NC_000019.9:g.46844473_46844474del, NC_000019.9:g.46844474del, NC_000019.9:g.46844474dup, NC_000019.9:g.46844473_46844474dup, NC_000019.9:g.46844472_46844474dup, NC_000019.9:g.46844471_46844474dup, NC_000019.9:g.46844470_46844474dup, NG_029679.1:g.49158_49170del, NG_029679.1:g.49162_49170del, NG_029679.1:g.49163_49170del, NG_029679.1:g.49166_49170del, NG_029679.1:g.49167_49170del, NG_029679.1:g.49168_49170del, NG_029679.1:g.49169_49170del, NG_029679.1:g.49170del, NG_029679.1:g.49170dup, NG_029679.1:g.49169_49170dup, NG_029679.1:g.49168_49170dup, NG_029679.1:g.49167_49170dup, NG_029679.1:g.49166_49170dup, NM_152794.4:c.*1583_*1595del, NM_152794.4:c.*1587_*1595del, NM_152794.4:c.*1588_*1595del, NM_152794.4:c.*1591_*1595del, NM_152794.4:c.*1592_*1595del, NM_152794.4:c.*1593_*1595del, NM_152794.4:c.*1594_*1595del, NM_152794.4:c.*1595del, NM_152794.4:c.*1595dup, NM_152794.4:c.*1594_*1595dup, NM_152794.4:c.*1593_*1595dup, NM_152794.4:c.*1592_*1595dup, NM_152794.4:c.*1591_*1595dup, NM_152794.3:c.*1583_*1595del, NM_152794.3:c.*1587_*1595del, NM_152794.3:c.*1588_*1595del, NM_152794.3:c.*1591_*1595del, NM_152794.3:c.*1592_*1595del, NM_152794.3:c.*1593_*1595del, NM_152794.3:c.*1594_*1595del, NM_152794.3:c.*1595del, NM_152794.3:c.*1595dup, NM_152794.3:c.*1594_*1595dup, NM_152794.3:c.*1593_*1595dup, NM_152794.3:c.*1592_*1595dup, NM_152794.3:c.*1591_*1595dup, NM_152795.4:c.*1583_*1595del, NM_152795.4:c.*1587_*1595del, NM_152795.4:c.*1588_*1595del, NM_152795.4:c.*1591_*1595del, NM_152795.4:c.*1592_*1595del, NM_152795.4:c.*1593_*1595del, NM_152795.4:c.*1594_*1595del, NM_152795.4:c.*1595del, NM_152795.4:c.*1595dup, NM_152795.4:c.*1594_*1595dup, NM_152795.4:c.*1593_*1595dup, NM_152795.4:c.*1592_*1595dup, NM_152795.4:c.*1591_*1595dup, NM_152795.3:c.*1583_*1595del, NM_152795.3:c.*1587_*1595del, NM_152795.3:c.*1588_*1595del, NM_152795.3:c.*1591_*1595del, NM_152795.3:c.*1592_*1595del, NM_152795.3:c.*1593_*1595del, NM_152795.3:c.*1594_*1595del, NM_152795.3:c.*1595del, NM_152795.3:c.*1595dup, NM_152795.3:c.*1594_*1595dup, NM_152795.3:c.*1593_*1595dup, NM_152795.3:c.*1592_*1595dup, NM_152795.3:c.*1591_*1595dup, NM_022462.4:c.*1583_*1595del, NM_022462.4:c.*1587_*1595del, NM_022462.4:c.*1588_*1595del, NM_022462.4:c.*1591_*1595del, NM_022462.4:c.*1592_*1595del, NM_022462.4:c.*1593_*1595del, NM_022462.4:c.*1594_*1595del, NM_022462.4:c.*1595del, NM_022462.4:c.*1595dup, NM_022462.4:c.*1594_*1595dup, NM_022462.4:c.*1593_*1595dup, NM_022462.4:c.*1592_*1595dup, NM_022462.4:c.*1591_*1595dup, XM_005259152.5:c.*1583_*1595del, XM_005259152.5:c.*1587_*1595del, XM_005259152.5:c.*1588_*1595del, XM_005259152.5:c.*1591_*1595del, XM_005259152.5:c.*1592_*1595del, XM_005259152.5:c.*1593_*1595del, XM_005259152.5:c.*1594_*1595del, XM_005259152.5:c.*1595del, XM_005259152.5:c.*1595dup, XM_005259152.5:c.*1594_*1595dup, XM_005259152.5:c.*1593_*1595dup, XM_005259152.5:c.*1592_*1595dup, XM_005259152.5:c.*1591_*1595dup, XM_005259152.4:c.*1583_*1595del, XM_005259152.4:c.*1587_*1595del, XM_005259152.4:c.*1588_*1595del, XM_005259152.4:c.*1591_*1595del, XM_005259152.4:c.*1592_*1595del, XM_005259152.4:c.*1593_*1595del, XM_005259152.4:c.*1594_*1595del, XM_005259152.4:c.*1595del, XM_005259152.4:c.*1595dup, XM_005259152.4:c.*1594_*1595dup, XM_005259152.4:c.*1593_*1595dup, XM_005259152.4:c.*1592_*1595dup, XM_005259152.4:c.*1591_*1595dup, XM_005259152.3:c.*1583_*1595del, XM_005259152.3:c.*1587_*1595del, XM_005259152.3:c.*1588_*1595del, XM_005259152.3:c.*1591_*1595del, XM_005259152.3:c.*1592_*1595del, XM_005259152.3:c.*1593_*1595del, XM_005259152.3:c.*1594_*1595del, XM_005259152.3:c.*1595del, XM_005259152.3:c.*1595dup, XM_005259152.3:c.*1594_*1595dup, XM_005259152.3:c.*1593_*1595dup, XM_005259152.3:c.*1592_*1595dup, XM_005259152.3:c.*1591_*1595dup, XM_005259152.2:c.*1583_*1595del, XM_005259152.2:c.*1587_*1595del, XM_005259152.2:c.*1588_*1595del, XM_005259152.2:c.*1591_*1595del, XM_005259152.2:c.*1592_*1595del, XM_005259152.2:c.*1593_*1595del, XM_005259152.2:c.*1594_*1595del, XM_005259152.2:c.*1595del, XM_005259152.2:c.*1595dup, XM_005259152.2:c.*1594_*1595dup, XM_005259152.2:c.*1593_*1595dup, XM_005259152.2:c.*1592_*1595dup, XM_005259152.2:c.*1591_*1595dup, XM_005259152.1:c.*1583_*1595del, XM_005259152.1:c.*1587_*1595del, XM_005259152.1:c.*1588_*1595del, XM_005259152.1:c.*1591_*1595del, XM_005259152.1:c.*1592_*1595del, XM_005259152.1:c.*1593_*1595del, XM_005259152.1:c.*1594_*1595del, XM_005259152.1:c.*1595del, XM_005259152.1:c.*1595dup, XM_005259152.1:c.*1594_*1595dup, XM_005259152.1:c.*1593_*1595dup, XM_005259152.1:c.*1592_*1595dup, XM_005259152.1:c.*1591_*1595dup, XM_017027132.2:c.*1583_*1595del, XM_017027132.2:c.*1587_*1595del, XM_017027132.2:c.*1588_*1595del, XM_017027132.2:c.*1591_*1595del, XM_017027132.2:c.*1592_*1595del, XM_017027132.2:c.*1593_*1595del, XM_017027132.2:c.*1594_*1595del, XM_017027132.2:c.*1595del, XM_017027132.2:c.*1595dup, XM_017027132.2:c.*1594_*1595dup, XM_017027132.2:c.*1593_*1595dup, XM_017027132.2:c.*1592_*1595dup, XM_017027132.2:c.*1591_*1595dup, XM_017027132.1:c.*1583_*1595del, XM_017027132.1:c.*1587_*1595del, XM_017027132.1:c.*1588_*1595del, XM_017027132.1:c.*1591_*1595del, XM_017027132.1:c.*1592_*1595del, XM_017027132.1:c.*1593_*1595del, XM_017027132.1:c.*1594_*1595del, XM_017027132.1:c.*1595del, XM_017027132.1:c.*1595dup, XM_017027132.1:c.*1594_*1595dup, XM_017027132.1:c.*1593_*1595dup, XM_017027132.1:c.*1592_*1595dup, XM_017027132.1:c.*1591_*1595dup, XM_017027135.2:c.*1583_*1595del, XM_017027135.2:c.*1587_*1595del, XM_017027135.2:c.*1588_*1595del, XM_017027135.2:c.*1591_*1595del, XM_017027135.2:c.*1592_*1595del, XM_017027135.2:c.*1593_*1595del, XM_017027135.2:c.*1594_*1595del, XM_017027135.2:c.*1595del, XM_017027135.2:c.*1595dup, XM_017027135.2:c.*1594_*1595dup, XM_017027135.2:c.*1593_*1595dup, XM_017027135.2:c.*1592_*1595dup, XM_017027135.2:c.*1591_*1595dup, XM_017027135.1:c.*1583_*1595del, XM_017027135.1:c.*1587_*1595del, XM_017027135.1:c.*1588_*1595del, XM_017027135.1:c.*1591_*1595del, XM_017027135.1:c.*1592_*1595del, XM_017027135.1:c.*1593_*1595del, XM_017027135.1:c.*1594_*1595del, XM_017027135.1:c.*1595del, XM_017027135.1:c.*1595dup, XM_017027135.1:c.*1594_*1595dup, XM_017027135.1:c.*1593_*1595dup, XM_017027135.1:c.*1592_*1595dup, XM_017027135.1:c.*1591_*1595dup, XM_017027134.2:c.*1583_*1595del, XM_017027134.2:c.*1587_*1595del, XM_017027134.2:c.*1588_*1595del, XM_017027134.2:c.*1591_*1595del, XM_017027134.2:c.*1592_*1595del, XM_017027134.2:c.*1593_*1595del, XM_017027134.2:c.*1594_*1595del, XM_017027134.2:c.*1595del, XM_017027134.2:c.*1595dup, XM_017027134.2:c.*1594_*1595dup, XM_017027134.2:c.*1593_*1595dup, XM_017027134.2:c.*1592_*1595dup, XM_017027134.2:c.*1591_*1595dup, XM_017027134.1:c.*1583_*1595del, XM_017027134.1:c.*1587_*1595del, XM_017027134.1:c.*1588_*1595del, XM_017027134.1:c.*1591_*1595del, XM_017027134.1:c.*1592_*1595del, XM_017027134.1:c.*1593_*1595del, XM_017027134.1:c.*1594_*1595del, XM_017027134.1:c.*1595del, XM_017027134.1:c.*1595dup, XM_017027134.1:c.*1594_*1595dup, XM_017027134.1:c.*1593_*1595dup, XM_017027134.1:c.*1592_*1595dup, XM_017027134.1:c.*1591_*1595dup, XM_017027141.2:c.*1583_*1595del, XM_017027141.2:c.*1587_*1595del, XM_017027141.2:c.*1588_*1595del, XM_017027141.2:c.*1591_*1595del, XM_017027141.2:c.*1592_*1595del, XM_017027141.2:c.*1593_*1595del, XM_017027141.2:c.*1594_*1595del, XM_017027141.2:c.*1595del, XM_017027141.2:c.*1595dup, XM_017027141.2:c.*1594_*1595dup, XM_017027141.2:c.*1593_*1595dup, XM_017027141.2:c.*1592_*1595dup, XM_017027141.2:c.*1591_*1595dup, XM_017027141.1:c.*1583_*1595del, XM_017027141.1:c.*1587_*1595del, XM_017027141.1:c.*1588_*1595del, XM_017027141.1:c.*1591_*1595del, XM_017027141.1:c.*1592_*1595del, XM_017027141.1:c.*1593_*1595del, XM_017027141.1:c.*1594_*1595del, XM_017027141.1:c.*1595del, XM_017027141.1:c.*1595dup, XM_017027141.1:c.*1594_*1595dup, XM_017027141.1:c.*1593_*1595dup, XM_017027141.1:c.*1592_*1595dup, XM_017027141.1:c.*1591_*1595dup, XM_017027140.2:c.*1583_*1595del, XM_017027140.2:c.*1587_*1595del, XM_017027140.2:c.*1588_*1595del, XM_017027140.2:c.*1591_*1595del, XM_017027140.2:c.*1592_*1595del, XM_017027140.2:c.*1593_*1595del, XM_017027140.2:c.*1594_*1595del, XM_017027140.2:c.*1595del, XM_017027140.2:c.*1595dup, XM_017027140.2:c.*1594_*1595dup, XM_017027140.2:c.*1593_*1595dup, XM_017027140.2:c.*1592_*1595dup, XM_017027140.2:c.*1591_*1595dup, XM_017027140.1:c.*1583_*1595del, XM_017027140.1:c.*1587_*1595del, XM_017027140.1:c.*1588_*1595del, XM_017027140.1:c.*1591_*1595del, XM_017027140.1:c.*1592_*1595del, XM_017027140.1:c.*1593_*1595del, XM_017027140.1:c.*1594_*1595del, XM_017027140.1:c.*1595del, XM_017027140.1:c.*1595dup, XM_017027140.1:c.*1594_*1595dup, XM_017027140.1:c.*1593_*1595dup, XM_017027140.1:c.*1592_*1595dup, XM_017027140.1:c.*1591_*1595dup, XM_047439216.1:c.*1583_*1595del, XM_047439216.1:c.*1587_*1595del, XM_047439216.1:c.*1588_*1595del, XM_047439216.1:c.*1591_*1595del, XM_047439216.1:c.*1592_*1595del, XM_047439216.1:c.*1593_*1595del, XM_047439216.1:c.*1594_*1595del, XM_047439216.1:c.*1595del, XM_047439216.1:c.*1595dup, XM_047439216.1:c.*1594_*1595dup, XM_047439216.1:c.*1593_*1595dup, XM_047439216.1:c.*1592_*1595dup, XM_047439216.1:c.*1591_*1595dup, XM_047439217.1:c.*1583_*1595del, XM_047439217.1:c.*1587_*1595del, XM_047439217.1:c.*1588_*1595del, XM_047439217.1:c.*1591_*1595del, XM_047439217.1:c.*1592_*1595del, XM_047439217.1:c.*1593_*1595del, XM_047439217.1:c.*1594_*1595del, XM_047439217.1:c.*1595del, XM_047439217.1:c.*1595dup, XM_047439217.1:c.*1594_*1595dup, XM_047439217.1:c.*1593_*1595dup, XM_047439217.1:c.*1592_*1595dup, XM_047439217.1:c.*1591_*1595dup

      3.

      rs1490607451 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:46340398 (GRCh38)
        19:46843655 (GRCh37)
        Canonical SPDI:
        NC_000019.10:46340397:C:T
        Gene:
        HIF3A (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1489614659 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          T>- [Show Flanks]
          Chromosome:
          19:46342098 (GRCh38)
          19:46845355 (GRCh37)
          Canonical SPDI:
          NC_000019.10:46342097:T:
          Gene:
          HIF3A (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:

          5.

          rs1489435161 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:46309301 (GRCh38)
            19:46812558 (GRCh37)
            Canonical SPDI:
            NC_000019.10:46309300:C:T
            Gene:
            HIF3A (Varview)
            Functional Consequence:
            stop_gained,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            T=0.000014/2 (GnomAD)
            T=0.000546/1 (Korea1K)
            HGVS:
            NC_000019.10:g.46309301C>T, NC_000019.9:g.46812558C>T, NG_029679.1:g.17254C>T, NM_152794.4:c.706C>T, NM_152794.3:c.706C>T, NM_152795.4:c.712C>T, NM_152795.3:c.712C>T, NM_022462.4:c.505C>T, NM_152796.2:c.505C>T, XM_005259152.5:c.844C>T, XM_005259152.4:c.844C>T, XM_005259152.3:c.844C>T, XM_005259152.2:c.844C>T, XM_005259152.1:c.844C>T, XM_005259156.5:c.844C>T, XM_005259156.4:c.844C>T, XM_005259156.3:c.844C>T, XM_005259156.2:c.844C>T, XM_005259156.1:c.844C>T, XM_005259153.4:c.559C>T, XM_005259153.3:c.505C>T, XM_005259153.2:c.505C>T, XM_005259153.1:c.559C>T, XM_017027132.2:c.844C>T, XM_017027132.1:c.844C>T, XM_017027135.2:c.706C>T, XM_017027135.1:c.706C>T, XM_017027134.2:c.712C>T, XM_017027134.1:c.712C>T, XM_017027141.2:c.505C>T, XM_017027141.1:c.505C>T, XM_017027140.2:c.505C>T, XM_017027140.1:c.505C>T, XM_017027133.2:c.844C>T, XM_017027133.1:c.844C>T, XM_017027137.2:c.706C>T, XM_017027137.1:c.706C>T, XM_017027136.2:c.844C>T, XM_017027136.1:c.844C>T, XM_017027138.2:c.712C>T, XM_017027138.1:c.712C>T, XM_047439216.1:c.505C>T, XM_047439217.1:c.505C>T, XM_047439214.1:c.712C>T, XM_047439215.1:c.706C>T, XM_047439218.1:c.505C>T, XM_047439219.1:c.844C>T, NP_690007.1:p.Arg236Ter, NP_690008.2:p.Arg238Ter, NP_071907.4:p.Arg169Ter, NP_690009.1:p.Arg169Ter, XP_005259209.1:p.Arg282Ter, XP_005259213.1:p.Arg282Ter, XP_005259210.3:p.Arg187Ter, XP_016882621.1:p.Arg282Ter, XP_016882624.1:p.Arg236Ter, XP_016882623.1:p.Arg238Ter, XP_016882630.1:p.Arg169Ter, XP_016882629.1:p.Arg169Ter, XP_016882622.1:p.Arg282Ter, XP_016882626.1:p.Arg236Ter, XP_016882625.1:p.Arg282Ter, XP_016882627.1:p.Arg238Ter, XP_047295172.1:p.Arg169Ter, XP_047295173.1:p.Arg169Ter, XP_047295170.1:p.Arg238Ter, XP_047295171.1:p.Arg236Ter, XP_047295174.1:p.Arg169Ter, XP_047295175.1:p.Arg282Ter

            6.

            rs1489232433 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              19:46340814 (GRCh38)
              19:46844071 (GRCh37)
              Canonical SPDI:
              NC_000019.10:46340813:T:A
              Gene:
              HIF3A (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000011/3 (TOPMED)
              HGVS:

              7.

              rs1488473706 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:46308768 (GRCh38)
                19:46812025 (GRCh37)
                Canonical SPDI:
                NC_000019.10:46308767:C:T
                Gene:
                HIF3A (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000094/1 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000007/1 (GnomAD)
                T=0.000008/2 (TOPMED)
                HGVS:
                NC_000019.10:g.46308768C>T, NC_000019.9:g.46812025C>T, NG_029679.1:g.16721C>T, NM_152794.4:c.548C>T, NM_152794.3:c.548C>T, NM_152795.4:c.554C>T, NM_152795.3:c.554C>T, NM_022462.4:c.347C>T, NM_152796.2:c.347C>T, XM_005259152.5:c.686C>T, XM_005259152.4:c.686C>T, XM_005259152.3:c.686C>T, XM_005259152.2:c.686C>T, XM_005259152.1:c.686C>T, XM_005259156.5:c.686C>T, XM_005259156.4:c.686C>T, XM_005259156.3:c.686C>T, XM_005259156.2:c.686C>T, XM_005259156.1:c.686C>T, XM_005259153.4:c.401C>T, XM_005259153.3:c.347C>T, XM_005259153.2:c.347C>T, XM_005259153.1:c.401C>T, XM_017027132.2:c.686C>T, XM_017027132.1:c.686C>T, XM_017027135.2:c.548C>T, XM_017027135.1:c.548C>T, XM_017027134.2:c.554C>T, XM_017027134.1:c.554C>T, XM_017027141.2:c.347C>T, XM_017027141.1:c.347C>T, XM_017027140.2:c.347C>T, XM_017027140.1:c.347C>T, XM_017027133.2:c.686C>T, XM_017027133.1:c.686C>T, XM_017027137.2:c.548C>T, XM_017027137.1:c.548C>T, XM_017027136.2:c.686C>T, XM_017027136.1:c.686C>T, XM_017027138.2:c.554C>T, XM_017027138.1:c.554C>T, XM_047439216.1:c.347C>T, XM_047439217.1:c.347C>T, XM_047439214.1:c.554C>T, XM_047439215.1:c.548C>T, XM_047439218.1:c.347C>T, XM_047439219.1:c.686C>T, NP_690007.1:p.Thr183Ile, NP_690008.2:p.Thr185Ile, NP_071907.4:p.Thr116Ile, NP_690009.1:p.Thr116Ile, XP_005259209.1:p.Thr229Ile, XP_005259213.1:p.Thr229Ile, XP_005259210.3:p.Thr134Ile, XP_016882621.1:p.Thr229Ile, XP_016882624.1:p.Thr183Ile, XP_016882623.1:p.Thr185Ile, XP_016882630.1:p.Thr116Ile, XP_016882629.1:p.Thr116Ile, XP_016882622.1:p.Thr229Ile, XP_016882626.1:p.Thr183Ile, XP_016882625.1:p.Thr229Ile, XP_016882627.1:p.Thr185Ile, XP_047295172.1:p.Thr116Ile, XP_047295173.1:p.Thr116Ile, XP_047295170.1:p.Thr185Ile, XP_047295171.1:p.Thr183Ile, XP_047295174.1:p.Thr116Ile, XP_047295175.1:p.Thr229Ile

                8.

                rs1487693299 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  19:46303951 (GRCh38)
                  19:46807208 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:46303950:G:A
                  Gene:
                  HIF3A (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000019.10:g.46303951G>A, NC_000019.9:g.46807208G>A, NG_029679.1:g.11904G>A, NM_152794.4:c.74G>A, NM_152794.3:c.74G>A, NM_152795.4:c.80G>A, NM_152795.3:c.80G>A, NM_022462.4:c.19G>A, NM_152796.2:c.19G>A, XM_005259152.5:c.212G>A, XM_005259152.4:c.212G>A, XM_005259152.3:c.212G>A, XM_005259152.2:c.212G>A, XM_005259152.1:c.212G>A, XM_005259156.5:c.212G>A, XM_005259156.4:c.212G>A, XM_005259156.3:c.212G>A, XM_005259156.2:c.212G>A, XM_005259156.1:c.212G>A, XM_005259153.4:c.73G>A, XM_005259153.3:c.19G>A, XM_005259153.2:c.19G>A, XM_005259153.1:c.73G>A, XM_017027132.2:c.212G>A, XM_017027132.1:c.212G>A, XM_017027135.2:c.74G>A, XM_017027135.1:c.74G>A, XM_017027134.2:c.80G>A, XM_017027134.1:c.80G>A, XM_017027141.2:c.19G>A, XM_017027141.1:c.19G>A, XM_017027140.2:c.19G>A, XM_017027140.1:c.19G>A, XM_017027133.2:c.212G>A, XM_017027133.1:c.212G>A, XM_017027137.2:c.74G>A, XM_017027137.1:c.74G>A, XM_017027136.2:c.212G>A, XM_017027136.1:c.212G>A, XM_017027138.2:c.80G>A, XM_017027138.1:c.80G>A, XM_047439216.1:c.19G>A, XM_047439217.1:c.19G>A, XM_047439214.1:c.80G>A, XM_047439215.1:c.74G>A, XM_047439218.1:c.19G>A, XM_047439219.1:c.212G>A, NP_690007.1:p.Arg25His, NP_690008.2:p.Arg27His, NP_071907.4:p.Ala7Thr, NP_690009.1:p.Ala7Thr, XP_005259209.1:p.Arg71His, XP_005259213.1:p.Arg71His, XP_005259210.3:p.Ala25Thr, XP_016882621.1:p.Arg71His, XP_016882624.1:p.Arg25His, XP_016882623.1:p.Arg27His, XP_016882630.1:p.Ala7Thr, XP_016882629.1:p.Ala7Thr, XP_016882622.1:p.Arg71His, XP_016882626.1:p.Arg25His, XP_016882625.1:p.Arg71His, XP_016882627.1:p.Arg27His, XP_047295172.1:p.Ala7Thr, XP_047295173.1:p.Ala7Thr, XP_047295170.1:p.Arg27His, XP_047295171.1:p.Arg25His, XP_047295174.1:p.Ala7Thr, XP_047295175.1:p.Arg71His

                  9.

                  rs1487648530 has merged into rs1035159251 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CTCT>-,CT,CTCTCT [Show Flanks]
                    Chromosome:
                    19:46341196 (GRCh38)
                    19:46844453 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:46341190:TCTCTCTCT:TCTCT,NC_000019.10:46341190:TCTCTCTCT:TCTCTCT,NC_000019.10:46341190:TCTCTCTCT:TCTCTCTCTCT
                    Gene:
                    HIF3A (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TCTCTCT=0./0 (ALFA)
                    -=0.00003/4 (GnomAD)
                    TC=0.00006/1 (TOMMO)
                    -=0.000156/1 (1000Genomes)
                    HGVS:
                    NC_000019.10:g.46341192CT[2], NC_000019.10:g.46341192CT[3], NC_000019.10:g.46341192CT[5], NC_000019.9:g.46844449CT[2], NC_000019.9:g.46844449CT[3], NC_000019.9:g.46844449CT[5], NG_029679.1:g.49145CT[2], NG_029679.1:g.49145CT[3], NG_029679.1:g.49145CT[5], NM_152794.4:c.*1570CT[2], NM_152794.4:c.*1570CT[3], NM_152794.4:c.*1570CT[5], NM_152794.3:c.*1570CT[2], NM_152794.3:c.*1570CT[3], NM_152794.3:c.*1570CT[5], NM_152795.4:c.*1570CT[2], NM_152795.4:c.*1570CT[3], NM_152795.4:c.*1570CT[5], NM_152795.3:c.*1570CT[2], NM_152795.3:c.*1570CT[3], NM_152795.3:c.*1570CT[5], NM_022462.4:c.*1570CT[2], NM_022462.4:c.*1570CT[3], NM_022462.4:c.*1570CT[5], XM_005259152.5:c.*1570CT[2], XM_005259152.5:c.*1570CT[3], XM_005259152.5:c.*1570CT[5], XM_005259152.4:c.*1570CT[2], XM_005259152.4:c.*1570CT[3], XM_005259152.4:c.*1570CT[5], XM_005259152.3:c.*1570CT[2], XM_005259152.3:c.*1570CT[3], XM_005259152.3:c.*1570CT[5], XM_005259152.2:c.*1570CT[2], XM_005259152.2:c.*1570CT[3], XM_005259152.2:c.*1570CT[5], XM_005259152.1:c.*1570CT[2], XM_005259152.1:c.*1570CT[3], XM_005259152.1:c.*1570CT[5], XM_017027132.2:c.*1570CT[2], XM_017027132.2:c.*1570CT[3], XM_017027132.2:c.*1570CT[5], XM_017027132.1:c.*1570CT[2], XM_017027132.1:c.*1570CT[3], XM_017027132.1:c.*1570CT[5], XM_017027135.2:c.*1570CT[2], XM_017027135.2:c.*1570CT[3], XM_017027135.2:c.*1570CT[5], XM_017027135.1:c.*1570CT[2], XM_017027135.1:c.*1570CT[3], XM_017027135.1:c.*1570CT[5], XM_017027134.2:c.*1570CT[2], XM_017027134.2:c.*1570CT[3], XM_017027134.2:c.*1570CT[5], XM_017027134.1:c.*1570CT[2], XM_017027134.1:c.*1570CT[3], XM_017027134.1:c.*1570CT[5], XM_017027141.2:c.*1570CT[2], XM_017027141.2:c.*1570CT[3], XM_017027141.2:c.*1570CT[5], XM_017027141.1:c.*1570CT[2], XM_017027141.1:c.*1570CT[3], XM_017027141.1:c.*1570CT[5], XM_017027140.2:c.*1570CT[2], XM_017027140.2:c.*1570CT[3], XM_017027140.2:c.*1570CT[5], XM_017027140.1:c.*1570CT[2], XM_017027140.1:c.*1570CT[3], XM_017027140.1:c.*1570CT[5], XM_047439216.1:c.*1570CT[2], XM_047439216.1:c.*1570CT[3], XM_047439216.1:c.*1570CT[5], XM_047439217.1:c.*1570CT[2], XM_047439217.1:c.*1570CT[3], XM_047439217.1:c.*1570CT[5]

                    10.

                    rs1487437159 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      19:46303997 (GRCh38)
                      19:46807254 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:46303996:C:A,NC_000019.10:46303996:C:T
                      Gene:
                      HIF3A (Varview)
                      Functional Consequence:
                      synonymous_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000019.10:g.46303997C>A, NC_000019.10:g.46303997C>T, NC_000019.9:g.46807254C>A, NC_000019.9:g.46807254C>T, NG_029679.1:g.11950C>A, NG_029679.1:g.11950C>T, NM_152794.4:c.120C>A, NM_152794.4:c.120C>T, NM_152794.3:c.120C>A, NM_152794.3:c.120C>T, NM_152795.4:c.126C>A, NM_152795.4:c.126C>T, NM_152795.3:c.126C>A, NM_152795.3:c.126C>T, NM_022462.4:c.65C>A, NM_022462.4:c.65C>T, NM_152796.2:c.65C>A, NM_152796.2:c.65C>T, XM_005259152.5:c.258C>A, XM_005259152.5:c.258C>T, XM_005259152.4:c.258C>A, XM_005259152.4:c.258C>T, XM_005259152.3:c.258C>A, XM_005259152.3:c.258C>T, XM_005259152.2:c.258C>A, XM_005259152.2:c.258C>T, XM_005259152.1:c.258C>A, XM_005259152.1:c.258C>T, XM_005259156.5:c.258C>A, XM_005259156.5:c.258C>T, XM_005259156.4:c.258C>A, XM_005259156.4:c.258C>T, XM_005259156.3:c.258C>A, XM_005259156.3:c.258C>T, XM_005259156.2:c.258C>A, XM_005259156.2:c.258C>T, XM_005259156.1:c.258C>A, XM_005259156.1:c.258C>T, XM_005259153.4:c.119C>A, XM_005259153.4:c.119C>T, XM_005259153.3:c.65C>A, XM_005259153.3:c.65C>T, XM_005259153.2:c.65C>A, XM_005259153.2:c.65C>T, XM_005259153.1:c.119C>A, XM_005259153.1:c.119C>T, XM_017027132.2:c.258C>A, XM_017027132.2:c.258C>T, XM_017027132.1:c.258C>A, XM_017027132.1:c.258C>T, XM_017027135.2:c.120C>A, XM_017027135.2:c.120C>T, XM_017027135.1:c.120C>A, XM_017027135.1:c.120C>T, XM_017027134.2:c.126C>A, XM_017027134.2:c.126C>T, XM_017027134.1:c.126C>A, XM_017027134.1:c.126C>T, XM_017027141.2:c.65C>A, XM_017027141.2:c.65C>T, XM_017027141.1:c.65C>A, XM_017027141.1:c.65C>T, XM_017027140.2:c.65C>A, XM_017027140.2:c.65C>T, XM_017027140.1:c.65C>A, XM_017027140.1:c.65C>T, XM_017027133.2:c.258C>A, XM_017027133.2:c.258C>T, XM_017027133.1:c.258C>A, XM_017027133.1:c.258C>T, XM_017027137.2:c.120C>A, XM_017027137.2:c.120C>T, XM_017027137.1:c.120C>A, XM_017027137.1:c.120C>T, XM_017027136.2:c.258C>A, XM_017027136.2:c.258C>T, XM_017027136.1:c.258C>A, XM_017027136.1:c.258C>T, XM_017027138.2:c.126C>A, XM_017027138.2:c.126C>T, XM_017027138.1:c.126C>A, XM_017027138.1:c.126C>T, XM_047439216.1:c.65C>A, XM_047439216.1:c.65C>T, XM_047439217.1:c.65C>A, XM_047439217.1:c.65C>T, XM_047439214.1:c.126C>A, XM_047439214.1:c.126C>T, XM_047439215.1:c.120C>A, XM_047439215.1:c.120C>T, XM_047439218.1:c.65C>A, XM_047439218.1:c.65C>T, XM_047439219.1:c.258C>A, XM_047439219.1:c.258C>T, NP_071907.4:p.Pro22His, NP_071907.4:p.Pro22Leu, NP_690009.1:p.Pro22His, NP_690009.1:p.Pro22Leu, XP_005259210.3:p.Pro40His, XP_005259210.3:p.Pro40Leu, XP_016882630.1:p.Pro22His, XP_016882630.1:p.Pro22Leu, XP_016882629.1:p.Pro22His, XP_016882629.1:p.Pro22Leu, XP_047295172.1:p.Pro22His, XP_047295172.1:p.Pro22Leu, XP_047295173.1:p.Pro22His, XP_047295173.1:p.Pro22Leu, XP_047295174.1:p.Pro22His, XP_047295174.1:p.Pro22Leu

                      11.

                      rs1486861108 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:46303990 (GRCh38)
                        19:46807247 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:46303989:C:T
                        Gene:
                        HIF3A (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000019.10:g.46303990C>T, NC_000019.9:g.46807247C>T, NG_029679.1:g.11943C>T, NM_152794.4:c.113C>T, NM_152794.3:c.113C>T, NM_152795.4:c.119C>T, NM_152795.3:c.119C>T, NM_022462.4:c.58C>T, NM_152796.2:c.58C>T, XM_005259152.5:c.251C>T, XM_005259152.4:c.251C>T, XM_005259152.3:c.251C>T, XM_005259152.2:c.251C>T, XM_005259152.1:c.251C>T, XM_005259156.5:c.251C>T, XM_005259156.4:c.251C>T, XM_005259156.3:c.251C>T, XM_005259156.2:c.251C>T, XM_005259156.1:c.251C>T, XM_005259153.4:c.112C>T, XM_005259153.3:c.58C>T, XM_005259153.2:c.58C>T, XM_005259153.1:c.112C>T, XM_017027132.2:c.251C>T, XM_017027132.1:c.251C>T, XM_017027135.2:c.113C>T, XM_017027135.1:c.113C>T, XM_017027134.2:c.119C>T, XM_017027134.1:c.119C>T, XM_017027141.2:c.58C>T, XM_017027141.1:c.58C>T, XM_017027140.2:c.58C>T, XM_017027140.1:c.58C>T, XM_017027133.2:c.251C>T, XM_017027133.1:c.251C>T, XM_017027137.2:c.113C>T, XM_017027137.1:c.113C>T, XM_017027136.2:c.251C>T, XM_017027136.1:c.251C>T, XM_017027138.2:c.119C>T, XM_017027138.1:c.119C>T, XM_047439216.1:c.58C>T, XM_047439217.1:c.58C>T, XM_047439214.1:c.119C>T, XM_047439215.1:c.113C>T, XM_047439218.1:c.58C>T, XM_047439219.1:c.251C>T, NP_690007.1:p.Thr38Met, NP_690008.2:p.Thr40Met, NP_071907.4:p.Arg20Cys, NP_690009.1:p.Arg20Cys, XP_005259209.1:p.Thr84Met, XP_005259213.1:p.Thr84Met, XP_005259210.3:p.Arg38Cys, XP_016882621.1:p.Thr84Met, XP_016882624.1:p.Thr38Met, XP_016882623.1:p.Thr40Met, XP_016882630.1:p.Arg20Cys, XP_016882629.1:p.Arg20Cys, XP_016882622.1:p.Thr84Met, XP_016882626.1:p.Thr38Met, XP_016882625.1:p.Thr84Met, XP_016882627.1:p.Thr40Met, XP_047295172.1:p.Arg20Cys, XP_047295173.1:p.Arg20Cys, XP_047295170.1:p.Thr40Met, XP_047295171.1:p.Thr38Met, XP_047295174.1:p.Arg20Cys, XP_047295175.1:p.Thr84Met

                        12.

                        rs1486680344 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          19:46308769 (GRCh38)
                          19:46812026 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:46308768:C:A
                          Gene:
                          HIF3A (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000019.10:g.46308769C>A, NC_000019.9:g.46812026C>A, NG_029679.1:g.16722C>A, NM_152794.4:c.549C>A, NM_152794.3:c.549C>A, NM_152795.4:c.555C>A, NM_152795.3:c.555C>A, NM_022462.4:c.348C>A, NM_152796.2:c.348C>A, XM_005259152.5:c.687C>A, XM_005259152.4:c.687C>A, XM_005259152.3:c.687C>A, XM_005259152.2:c.687C>A, XM_005259152.1:c.687C>A, XM_005259156.5:c.687C>A, XM_005259156.4:c.687C>A, XM_005259156.3:c.687C>A, XM_005259156.2:c.687C>A, XM_005259156.1:c.687C>A, XM_005259153.4:c.402C>A, XM_005259153.3:c.348C>A, XM_005259153.2:c.348C>A, XM_005259153.1:c.402C>A, XM_017027132.2:c.687C>A, XM_017027132.1:c.687C>A, XM_017027135.2:c.549C>A, XM_017027135.1:c.549C>A, XM_017027134.2:c.555C>A, XM_017027134.1:c.555C>A, XM_017027141.2:c.348C>A, XM_017027141.1:c.348C>A, XM_017027140.2:c.348C>A, XM_017027140.1:c.348C>A, XM_017027133.2:c.687C>A, XM_017027133.1:c.687C>A, XM_017027137.2:c.549C>A, XM_017027137.1:c.549C>A, XM_017027136.2:c.687C>A, XM_017027136.1:c.687C>A, XM_017027138.2:c.555C>A, XM_017027138.1:c.555C>A, XM_047439216.1:c.348C>A, XM_047439217.1:c.348C>A, XM_047439214.1:c.555C>A, XM_047439215.1:c.549C>A, XM_047439218.1:c.348C>A, XM_047439219.1:c.687C>A

                          13.

                          rs1486498689 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            19:46340409 (GRCh38)
                            19:46843666 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:46340408:T:C
                            Gene:
                            HIF3A (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000019/5 (TOPMED)
                            C=0.000021/3 (GnomAD)
                            HGVS:

                            14.

                            rs1485045225 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              19:46342829 (GRCh38)
                              19:46846086 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:46342828:C:A
                              Gene:
                              HIF3A (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1484433092 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                19:46298443 (GRCh38)
                                19:46801700 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:46298442:G:A,NC_000019.10:46298442:G:C
                                Gene:
                                HIF3A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000066/1 (ALFA)
                                A=0.000014/2 (GnomAD)
                                A=0.000223/1 (Estonian)
                                HGVS:
                                NC_000019.10:g.46298443G>A, NC_000019.10:g.46298443G>C, NC_000019.9:g.46801700G>A, NC_000019.9:g.46801700G>C, NG_029679.1:g.6396G>A, NG_029679.1:g.6396G>C, NM_022462.4:c.-107G>A, NM_022462.4:c.-107G>C, NM_152796.2:c.-107G>A, NM_152796.2:c.-107G>C, XM_005259152.5:c.87G>A, XM_005259152.5:c.87G>C, XM_005259152.4:c.87G>A, XM_005259152.4:c.87G>C, XM_005259152.3:c.87G>A, XM_005259152.3:c.87G>C, XM_005259152.2:c.87G>A, XM_005259152.2:c.87G>C, XM_005259152.1:c.87G>A, XM_005259152.1:c.87G>C, XM_005259156.5:c.87G>A, XM_005259156.5:c.87G>C, XM_005259156.4:c.87G>A, XM_005259156.4:c.87G>C, XM_005259156.3:c.87G>A, XM_005259156.3:c.87G>C, XM_005259156.2:c.87G>A, XM_005259156.2:c.87G>C, XM_005259156.1:c.87G>A, XM_005259156.1:c.87G>C, XM_017027132.2:c.87G>A, XM_017027132.2:c.87G>C, XM_017027132.1:c.87G>A, XM_017027132.1:c.87G>C, XM_017027133.2:c.87G>A, XM_017027133.2:c.87G>C, XM_017027133.1:c.87G>A, XM_017027133.1:c.87G>C, XM_017027136.2:c.87G>A, XM_017027136.2:c.87G>C, XM_017027136.1:c.87G>A, XM_017027136.1:c.87G>C, XM_047439216.1:c.-107G>A, XM_047439216.1:c.-107G>C, XM_047439219.1:c.87G>A, XM_047439219.1:c.87G>C

                                16.

                                rs1484419814 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  19:46312617 (GRCh38)
                                  19:46815874 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:46312616:A:G
                                  Gene:
                                  HIF3A (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.000447/2 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000446/2 (Estonian)
                                  HGVS:
                                  NC_000019.10:g.46312617A>G, NC_000019.9:g.46815874A>G, NG_029679.1:g.20570A>G, NM_152794.4:c.983A>G, NM_152794.3:c.983A>G, NM_152795.4:c.989A>G, NM_152795.3:c.989A>G, NM_022462.4:c.782A>G, NM_152796.2:c.782A>G, XM_005259152.5:c.1121A>G, XM_005259152.4:c.1121A>G, XM_005259152.3:c.1121A>G, XM_005259152.2:c.1121A>G, XM_005259152.1:c.1121A>G, XM_005259156.5:c.1121A>G, XM_005259156.4:c.1121A>G, XM_005259156.3:c.1121A>G, XM_005259156.2:c.1121A>G, XM_005259156.1:c.1121A>G, XM_005259153.4:c.836A>G, XM_005259153.3:c.782A>G, XM_005259153.2:c.782A>G, XM_005259153.1:c.836A>G, XM_017027132.2:c.1121A>G, XM_017027132.1:c.1121A>G, XM_017027135.2:c.983A>G, XM_017027135.1:c.983A>G, XM_017027134.2:c.989A>G, XM_017027134.1:c.989A>G, XM_017027141.2:c.782A>G, XM_017027141.1:c.782A>G, XM_017027140.2:c.782A>G, XM_017027140.1:c.782A>G, XM_017027133.2:c.1121A>G, XM_017027133.1:c.1121A>G, XM_017027137.2:c.983A>G, XM_017027137.1:c.983A>G, XM_017027136.2:c.1121A>G, XM_017027136.1:c.1121A>G, XM_017027138.2:c.989A>G, XM_017027138.1:c.989A>G, XM_047439216.1:c.782A>G, XM_047439217.1:c.782A>G, XM_047439214.1:c.989A>G, XM_047439215.1:c.983A>G, XM_047439218.1:c.782A>G, NP_690007.1:p.Gln328Arg, NP_690008.2:p.Gln330Arg, NP_071907.4:p.Gln261Arg, NP_690009.1:p.Gln261Arg, XP_005259209.1:p.Gln374Arg, XP_005259213.1:p.Gln374Arg, XP_005259210.3:p.Gln279Arg, XP_016882621.1:p.Gln374Arg, XP_016882624.1:p.Gln328Arg, XP_016882623.1:p.Gln330Arg, XP_016882630.1:p.Gln261Arg, XP_016882629.1:p.Gln261Arg, XP_016882622.1:p.Gln374Arg, XP_016882626.1:p.Gln328Arg, XP_016882625.1:p.Gln374Arg, XP_016882627.1:p.Gln330Arg, XP_047295172.1:p.Gln261Arg, XP_047295173.1:p.Gln261Arg, XP_047295170.1:p.Gln330Arg, XP_047295171.1:p.Gln328Arg, XP_047295174.1:p.Gln261Arg

                                  17.

                                  rs1484016852 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:46339639 (GRCh38)
                                    19:46842896 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:46339638:A:G
                                    Gene:
                                    HIF3A (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000009/2 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1483892069 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      19:46342918 (GRCh38)
                                      19:46846175 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:46342917:C:G
                                      Gene:
                                      HIF3A (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1483709483 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        19:46343018 (GRCh38)
                                        19:46846275 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:46343017:C:G
                                        Gene:
                                        HIF3A (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1483694128 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          G>- [Show Flanks]
                                          Chromosome:
                                          19:46339961 (GRCh38)
                                          19:46843218 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:46339960:GGG:GG
                                          Gene:
                                          HIF3A (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          GG=0./0 (ALFA)
                                          HGVS:

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