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1.

rs1491456574 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AT>- [Show Flanks]
    Chromosome:
    X:71255084 (GRCh38)
    X:70474934 (GRCh37)
    Canonical SPDI:
    NC_000023.11:71255083:AT:
    Gene:
    ZMYM3 (Varview), LOC105373247 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00008/1 (ALFA)
    HGVS:

    2.

    rs1491259314 has merged into rs61261611 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
      Chromosome:
      X:71255112 (GRCh38)
      X:70474962 (GRCh37)
      Canonical SPDI:
      NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000023.11:71255084:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
      Gene:
      ZMYM3 (Varview), LOC105373247 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
      HGVS:
      NC_000023.11:g.71255086CT[13], NC_000023.11:g.71255086CT[14], NC_000023.11:g.71255086CT[15], NC_000023.11:g.71255086CT[16], NC_000023.11:g.71255086CT[17], NC_000023.11:g.71255086CT[18], NC_000023.11:g.71255086CT[19], NC_000023.11:g.71255086CT[20], NC_000023.11:g.71255086CT[21], NC_000023.11:g.71255086CT[22], NC_000023.11:g.71255086CT[23], NC_000023.11:g.71255086CT[24], NC_000023.11:g.71255086CT[25], NC_000023.11:g.71255086CT[26], NC_000023.11:g.71255086CT[27], NC_000023.11:g.71255086CT[28], NC_000023.11:g.71255086CT[29], NC_000023.11:g.71255086CT[30], NC_000023.11:g.71255086CT[31], NC_000023.11:g.71255086CT[33], NC_000023.11:g.71255086CT[34], NC_000023.11:g.71255086CT[35], NC_000023.11:g.71255086CT[36], NC_000023.11:g.71255086CT[37], NC_000023.11:g.71255086CT[38], NC_000023.11:g.71255086CT[39], NC_000023.11:g.71255086CT[43], NC_000023.10:g.70474936CT[13], NC_000023.10:g.70474936CT[14], NC_000023.10:g.70474936CT[15], NC_000023.10:g.70474936CT[16], NC_000023.10:g.70474936CT[17], NC_000023.10:g.70474936CT[18], NC_000023.10:g.70474936CT[19], NC_000023.10:g.70474936CT[20], NC_000023.10:g.70474936CT[21], NC_000023.10:g.70474936CT[22], NC_000023.10:g.70474936CT[23], NC_000023.10:g.70474936CT[24], NC_000023.10:g.70474936CT[25], NC_000023.10:g.70474936CT[26], NC_000023.10:g.70474936CT[27], NC_000023.10:g.70474936CT[28], NC_000023.10:g.70474936CT[29], NC_000023.10:g.70474936CT[30], NC_000023.10:g.70474936CT[31], NC_000023.10:g.70474936CT[33], NC_000023.10:g.70474936CT[34], NC_000023.10:g.70474936CT[35], NC_000023.10:g.70474936CT[36], NC_000023.10:g.70474936CT[37], NC_000023.10:g.70474936CT[38], NC_000023.10:g.70474936CT[39], NC_000023.10:g.70474936CT[43], NG_016407.1:g.5050GA[13], NG_016407.1:g.5050GA[14], NG_016407.1:g.5050GA[15], NG_016407.1:g.5050GA[16], NG_016407.1:g.5050GA[17], NG_016407.1:g.5050GA[18], NG_016407.1:g.5050GA[19], NG_016407.1:g.5050GA[20], NG_016407.1:g.5050GA[21], NG_016407.1:g.5050GA[22], NG_016407.1:g.5050GA[23], NG_016407.1:g.5050GA[24], NG_016407.1:g.5050GA[25], NG_016407.1:g.5050GA[26], NG_016407.1:g.5050GA[27], NG_016407.1:g.5050GA[28], NG_016407.1:g.5050GA[29], NG_016407.1:g.5050GA[30], NG_016407.1:g.5050GA[31], NG_016407.1:g.5050GA[33], NG_016407.1:g.5050GA[34], NG_016407.1:g.5050GA[35], NG_016407.1:g.5050GA[36], NG_016407.1:g.5050GA[37], NG_016407.1:g.5050GA[38], NG_016407.1:g.5050GA[39], NG_016407.1:g.5050GA[43], NM_001171162.1:c.-700GA[13], NM_001171162.1:c.-700GA[14], NM_001171162.1:c.-700GA[15], NM_001171162.1:c.-700GA[16], NM_001171162.1:c.-700GA[17], NM_001171162.1:c.-700GA[18], NM_001171162.1:c.-700GA[19], NM_001171162.1:c.-700GA[20], NM_001171162.1:c.-700GA[21], NM_001171162.1:c.-700GA[22], NM_001171162.1:c.-700GA[23], NM_001171162.1:c.-700GA[24], NM_001171162.1:c.-700GA[25], NM_001171162.1:c.-700GA[26], NM_001171162.1:c.-700GA[27], NM_001171162.1:c.-700GA[28], NM_001171162.1:c.-700GA[29], NM_001171162.1:c.-700GA[30], NM_001171162.1:c.-700GA[31], NM_001171162.1:c.-700GA[33], NM_001171162.1:c.-700GA[34], NM_001171162.1:c.-700GA[35], NM_001171162.1:c.-700GA[36], NM_001171162.1:c.-700GA[37], NM_001171162.1:c.-700GA[38], NM_001171162.1:c.-700GA[39], NM_001171162.1:c.-700GA[43], XM_005262309.5:c.-509GA[13], XM_005262309.5:c.-509GA[14], XM_005262309.5:c.-509GA[15], XM_005262309.5:c.-509GA[16], XM_005262309.5:c.-509GA[17], XM_005262309.5:c.-509GA[18], XM_005262309.5:c.-509GA[19], XM_005262309.5:c.-509GA[20], XM_005262309.5:c.-509GA[21], XM_005262309.5:c.-509GA[22], XM_005262309.5:c.-509GA[23], XM_005262309.5:c.-509GA[24], XM_005262309.5:c.-509GA[25], XM_005262309.5:c.-509GA[26], XM_005262309.5:c.-509GA[27], XM_005262309.5:c.-509GA[28], XM_005262309.5:c.-509GA[29], XM_005262309.5:c.-509GA[30], XM_005262309.5:c.-509GA[31], XM_005262309.5:c.-509GA[33], XM_005262309.5:c.-509GA[34], XM_005262309.5:c.-509GA[35], XM_005262309.5:c.-509GA[36], XM_005262309.5:c.-509GA[37], XM_005262309.5:c.-509GA[38], XM_005262309.5:c.-509GA[39], XM_005262309.5:c.-509GA[43], XM_005262309.3:c.-509GA[13], XM_005262309.3:c.-509GA[14], XM_005262309.3:c.-509GA[15], XM_005262309.3:c.-509GA[16], XM_005262309.3:c.-509GA[17], XM_005262309.3:c.-509GA[18], XM_005262309.3:c.-509GA[19], XM_005262309.3:c.-509GA[20], XM_005262309.3:c.-509GA[21], XM_005262309.3:c.-509GA[22], XM_005262309.3:c.-509GA[23], XM_005262309.3:c.-509GA[24], XM_005262309.3:c.-509GA[25], XM_005262309.3:c.-509GA[26], XM_005262309.3:c.-509GA[27], XM_005262309.3:c.-509GA[28], XM_005262309.3:c.-509GA[29], XM_005262309.3:c.-509GA[30], XM_005262309.3:c.-509GA[31], XM_005262309.3:c.-509GA[33], XM_005262309.3:c.-509GA[34], XM_005262309.3:c.-509GA[35], XM_005262309.3:c.-509GA[36], XM_005262309.3:c.-509GA[37], XM_005262309.3:c.-509GA[38], XM_005262309.3:c.-509GA[39], XM_005262309.3:c.-509GA[43], XM_005262309.2:c.-509GA[13], XM_005262309.2:c.-509GA[14], XM_005262309.2:c.-509GA[15], XM_005262309.2:c.-509GA[16], XM_005262309.2:c.-509GA[17], XM_005262309.2:c.-509GA[18], XM_005262309.2:c.-509GA[19], XM_005262309.2:c.-509GA[20], XM_005262309.2:c.-509GA[21], XM_005262309.2:c.-509GA[22], XM_005262309.2:c.-509GA[23], XM_005262309.2:c.-509GA[24], XM_005262309.2:c.-509GA[25], XM_005262309.2:c.-509GA[26], XM_005262309.2:c.-509GA[27], XM_005262309.2:c.-509GA[28], XM_005262309.2:c.-509GA[29], XM_005262309.2:c.-509GA[30], XM_005262309.2:c.-509GA[31], XM_005262309.2:c.-509GA[33], XM_005262309.2:c.-509GA[34], XM_005262309.2:c.-509GA[35], XM_005262309.2:c.-509GA[36], XM_005262309.2:c.-509GA[37], XM_005262309.2:c.-509GA[38], XM_005262309.2:c.-509GA[39], XM_005262309.2:c.-509GA[43], XM_011531062.4:c.-700GA[13], XM_011531062.4:c.-700GA[14], XM_011531062.4:c.-700GA[15], XM_011531062.4:c.-700GA[16], XM_011531062.4:c.-700GA[17], XM_011531062.4:c.-700GA[18], XM_011531062.4:c.-700GA[19], XM_011531062.4:c.-700GA[20], XM_011531062.4:c.-700GA[21], XM_011531062.4:c.-700GA[22], XM_011531062.4:c.-700GA[23], XM_011531062.4:c.-700GA[24], XM_011531062.4:c.-700GA[25], XM_011531062.4:c.-700GA[26], XM_011531062.4:c.-700GA[27], XM_011531062.4:c.-700GA[28], XM_011531062.4:c.-700GA[29], XM_011531062.4:c.-700GA[30], XM_011531062.4:c.-700GA[31], XM_011531062.4:c.-700GA[33], XM_011531062.4:c.-700GA[34], XM_011531062.4:c.-700GA[35], XM_011531062.4:c.-700GA[36], XM_011531062.4:c.-700GA[37], XM_011531062.4:c.-700GA[38], XM_011531062.4:c.-700GA[39], XM_011531062.4:c.-700GA[43], XM_047442633.1:c.-509GA[13], XM_047442633.1:c.-509GA[14], XM_047442633.1:c.-509GA[15], XM_047442633.1:c.-509GA[16], XM_047442633.1:c.-509GA[17], XM_047442633.1:c.-509GA[18], XM_047442633.1:c.-509GA[19], XM_047442633.1:c.-509GA[20], XM_047442633.1:c.-509GA[21], XM_047442633.1:c.-509GA[22], XM_047442633.1:c.-509GA[23], XM_047442633.1:c.-509GA[24], XM_047442633.1:c.-509GA[25], XM_047442633.1:c.-509GA[26], XM_047442633.1:c.-509GA[27], XM_047442633.1:c.-509GA[28], XM_047442633.1:c.-509GA[29], XM_047442633.1:c.-509GA[30], XM_047442633.1:c.-509GA[31], XM_047442633.1:c.-509GA[33], XM_047442633.1:c.-509GA[34], XM_047442633.1:c.-509GA[35], XM_047442633.1:c.-509GA[36], XM_047442633.1:c.-509GA[37], XM_047442633.1:c.-509GA[38], XM_047442633.1:c.-509GA[39], XM_047442633.1:c.-509GA[43]

      3.

      rs1490576114 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CCTCTCTCTCTCTC [Show Flanks]
        Chromosome:
        X:71255099 (GRCh38)
        X:70474950 (GRCh37)
        Canonical SPDI:
        NC_000023.11:71255099:CTCTCTCTCTCTC:CTCTCTCTCTCTCCCTCTCTCTCTCTC
        Gene:
        ZMYM3 (Varview), LOC105373247 (Varview)
        Functional Consequence:
        intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
        Validated:
        by frequency
        MAF:
        CTCTCTCTCTCTCC=0.00006/3 (GnomAD)
        HGVS:

        4.

        rs1490304237 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          X:71256668 (GRCh38)
          X:70476518 (GRCh37)
          Canonical SPDI:
          NC_000023.11:71256667:T:C
          Gene:
          ZMYM3 (Varview), LOC105373247 (Varview)
          Functional Consequence:
          intron_variant,2KB_upstream_variant,upstream_transcript_variant
          HGVS:

          5.

          rs1490172259 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:71250643 (GRCh38)
            X:70470493 (GRCh37)
            Canonical SPDI:
            NC_000023.11:71250642:G:A
            Gene:
            ZMYM3 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000015/4 (TOPMED)
            HGVS:
            NC_000023.11:g.71250643G>A, NC_000023.10:g.70470493G>A, NG_016407.1:g.9555C>T, NM_005096.3:c.862C>T, NM_201599.3:c.862C>T, NM_201599.2:c.862C>T, NM_001171162.1:c.862C>T, NM_001171163.1:c.862C>T, XM_005262309.5:c.862C>T, XM_005262309.4:c.862C>T, XM_005262309.3:c.862C>T, XM_005262309.2:c.862C>T, XM_005262309.1:c.862C>T, XM_011531062.4:c.862C>T, XM_011531062.3:c.862C>T, XM_011531062.2:c.862C>T, XM_011531062.1:c.862C>T, XM_005262310.4:c.862C>T, XM_005262310.3:c.862C>T, XM_005262310.2:c.862C>T, XM_005262310.1:c.862C>T, XM_047442633.1:c.862C>T, XM_047442632.1:c.862C>T, XM_047442634.1:c.862C>T, XM_047442635.1:c.862C>T, NP_005087.1:p.Pro288Ser, NP_963893.1:p.Pro288Ser, NP_001164633.1:p.Pro288Ser, NP_001164634.1:p.Pro288Ser, XP_005262366.1:p.Pro288Ser, XP_011529364.1:p.Pro288Ser, XP_005262367.1:p.Pro288Ser, XP_047298589.1:p.Pro288Ser, XP_047298588.1:p.Pro288Ser, XP_047298590.1:p.Pro288Ser, XP_047298591.1:p.Pro288Ser

            6.

            rs1490081138 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              X:71251685 (GRCh38)
              X:70471535 (GRCh37)
              Canonical SPDI:
              NC_000023.11:71251684:G:A
              Gene:
              ZMYM3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.00001/1 (GnomAD)
              HGVS:

              7.

              rs1490008118 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:71249826 (GRCh38)
                X:70469676 (GRCh37)
                Canonical SPDI:
                NC_000023.11:71249825:G:A
                Gene:
                ZMYM3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.00001/1 (GnomAD)
                HGVS:

                8.

                rs1489820293 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:71241291 (GRCh38)
                  X:70461141 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:71241290:G:A
                  Gene:
                  ZMYM3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.0002/1 (1000Genomes)
                  HGVS:
                  NC_000023.11:g.71241291G>A, NC_000023.10:g.70461141G>A, NG_016407.1:g.18907C>T, NM_005096.3:c.3856C>T, NM_201599.3:c.3856C>T, NM_201599.2:c.3856C>T, NM_001171162.1:c.3820C>T, XM_005262309.5:c.3856C>T, XM_005262309.4:c.3856C>T, XM_005262309.3:c.3856C>T, XM_005262309.2:c.3856C>T, XM_005262309.1:c.3856C>T, XM_011531062.4:c.3856C>T, XM_011531062.3:c.3856C>T, XM_011531062.2:c.3856C>T, XM_011531062.1:c.3856C>T, XM_005262310.4:c.3820C>T, XM_005262310.3:c.3820C>T, XM_005262310.2:c.3820C>T, XM_005262310.1:c.3820C>T, XM_047442633.1:c.3820C>T, XM_047442632.1:c.3856C>T, XM_047442634.1:c.3820C>T, XM_047442635.1:c.3820C>T, NP_005087.1:p.Arg1286Cys, NP_963893.1:p.Arg1286Cys, NP_001164633.1:p.Arg1274Cys, XP_005262366.1:p.Arg1286Cys, XP_011529364.1:p.Arg1286Cys, XP_005262367.1:p.Arg1274Cys, XP_047298589.1:p.Arg1274Cys, XP_047298588.1:p.Arg1286Cys, XP_047298590.1:p.Arg1274Cys, XP_047298591.1:p.Arg1274Cys

                  9.

                  rs1489689726 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:71253846 (GRCh38)
                    X:70473696 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:71253845:C:T
                    Gene:
                    ZMYM3 (Varview), LOC105373247 (Varview)
                    Functional Consequence:
                    intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.00008/1 (ALFA)
                    T=0.00001/1 (GnomAD)
                    HGVS:

                    10.

                    rs1489564333 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:71245362 (GRCh38)
                      X:70465212 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:71245361:T:C
                      Gene:
                      ZMYM3 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      NC_000023.11:g.71245362T>C, NC_000023.10:g.70465212T>C, NG_016407.1:g.14836A>G, NM_005096.3:c.2984A>G, NM_201599.3:c.2984A>G, NM_201599.2:c.2984A>G, NM_001171162.1:c.2948A>G, XM_005262309.5:c.2984A>G, XM_005262309.4:c.2984A>G, XM_005262309.3:c.2984A>G, XM_005262309.2:c.2984A>G, XM_005262309.1:c.2984A>G, XM_011531062.4:c.2984A>G, XM_011531062.3:c.2984A>G, XM_011531062.2:c.2984A>G, XM_011531062.1:c.2984A>G, XM_005262310.4:c.2948A>G, XM_005262310.3:c.2948A>G, XM_005262310.2:c.2948A>G, XM_005262310.1:c.2948A>G, XM_047442633.1:c.2948A>G, XM_047442632.1:c.2984A>G, XM_047442634.1:c.2948A>G, XM_047442635.1:c.2948A>G, NP_005087.1:p.Asp995Gly, NP_963893.1:p.Asp995Gly, NP_001164633.1:p.Asp983Gly, XP_005262366.1:p.Asp995Gly, XP_011529364.1:p.Asp995Gly, XP_005262367.1:p.Asp983Gly, XP_047298589.1:p.Asp983Gly, XP_047298588.1:p.Asp995Gly, XP_047298590.1:p.Asp983Gly, XP_047298591.1:p.Asp983Gly

                      11.

                      rs1489496386 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        X:71256611 (GRCh38)
                        X:70476461 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:71256610:A:G
                        Gene:
                        ZMYM3 (Varview), LOC105373247 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000142/2 (ALFA)
                        G=0.000011/3 (TOPMED)
                        G=0.000019/2 (GnomAD)
                        HGVS:

                        12.

                        rs1489492054 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:71241333 (GRCh38)
                          X:70461183 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:71241332:C:T
                          Gene:
                          ZMYM3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                          HGVS:
                          NC_000023.11:g.71241333C>T, NC_000023.10:g.70461183C>T, NG_016407.1:g.18865G>A, NM_005096.3:c.3814G>A, NM_201599.3:c.3814G>A, NM_201599.2:c.3814G>A, NM_001171162.1:c.3778G>A, XM_005262309.5:c.3814G>A, XM_005262309.4:c.3814G>A, XM_005262309.3:c.3814G>A, XM_005262309.2:c.3814G>A, XM_005262309.1:c.3814G>A, XM_011531062.4:c.3814G>A, XM_011531062.3:c.3814G>A, XM_011531062.2:c.3814G>A, XM_011531062.1:c.3814G>A, XM_005262310.4:c.3778G>A, XM_005262310.3:c.3778G>A, XM_005262310.2:c.3778G>A, XM_005262310.1:c.3778G>A, XM_047442633.1:c.3778G>A, XM_047442632.1:c.3814G>A, XM_047442634.1:c.3778G>A, XM_047442635.1:c.3778G>A, NP_005087.1:p.Gly1272Arg, NP_963893.1:p.Gly1272Arg, NP_001164633.1:p.Gly1260Arg, XP_005262366.1:p.Gly1272Arg, XP_011529364.1:p.Gly1272Arg, XP_005262367.1:p.Gly1260Arg, XP_047298589.1:p.Gly1260Arg, XP_047298588.1:p.Gly1272Arg, XP_047298590.1:p.Gly1260Arg, XP_047298591.1:p.Gly1260Arg

                          13.

                          rs1489484954 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            X:71255148 (GRCh38)
                            X:70474998 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:71255147:C:G,NC_000023.11:71255147:C:T
                            Gene:
                            ZMYM3 (Varview), LOC105373247 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1489228126 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:71244465 (GRCh38)
                              X:70464315 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:71244464:T:C
                              Gene:
                              ZMYM3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.00001/1 (GnomAD)
                              HGVS:

                              15.

                              rs1488872293 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                X:71252366 (GRCh38)
                                X:70472216 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:71252365:T:C
                                Gene:
                                ZMYM3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.00002/2 (GnomAD)
                                HGVS:

                                16.

                                rs1488720064 has merged into rs5902685 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  X:71245140 (GRCh38)
                                  X:70464990 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:71245127:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  ZMYM3 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAAA=0./0 (ALFA)
                                  A=0.5/20 (GENOME_DK)
                                  HGVS:
                                  NC_000023.11:g.71245140_71245151del, NC_000023.11:g.71245141_71245151del, NC_000023.11:g.71245142_71245151del, NC_000023.11:g.71245143_71245151del, NC_000023.11:g.71245144_71245151del, NC_000023.11:g.71245145_71245151del, NC_000023.11:g.71245147_71245151del, NC_000023.11:g.71245148_71245151del, NC_000023.11:g.71245149_71245151del, NC_000023.11:g.71245150_71245151del, NC_000023.11:g.71245151del, NC_000023.11:g.71245151dup, NC_000023.11:g.71245150_71245151dup, NC_000023.11:g.71245149_71245151dup, NC_000023.11:g.71245148_71245151dup, NC_000023.11:g.71245147_71245151dup, NC_000023.11:g.71245146_71245151dup, NC_000023.11:g.71245145_71245151dup, NC_000023.11:g.71245144_71245151dup, NC_000023.11:g.71245143_71245151dup, NC_000023.11:g.71245142_71245151dup, NC_000023.11:g.71245141_71245151dup, NC_000023.11:g.71245140_71245151dup, NC_000023.11:g.71245139_71245151dup, NC_000023.11:g.71245138_71245151dup, NC_000023.11:g.71245135_71245151dup, NC_000023.11:g.71245151_71245152insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.71245128_71245151A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.70464990_70465001del, NC_000023.10:g.70464991_70465001del, NC_000023.10:g.70464992_70465001del, NC_000023.10:g.70464993_70465001del, NC_000023.10:g.70464994_70465001del, NC_000023.10:g.70464995_70465001del, NC_000023.10:g.70464997_70465001del, NC_000023.10:g.70464998_70465001del, NC_000023.10:g.70464999_70465001del, NC_000023.10:g.70465000_70465001del, NC_000023.10:g.70465001del, NC_000023.10:g.70465001dup, NC_000023.10:g.70465000_70465001dup, NC_000023.10:g.70464999_70465001dup, NC_000023.10:g.70464998_70465001dup, NC_000023.10:g.70464997_70465001dup, NC_000023.10:g.70464996_70465001dup, NC_000023.10:g.70464995_70465001dup, NC_000023.10:g.70464994_70465001dup, NC_000023.10:g.70464993_70465001dup, NC_000023.10:g.70464992_70465001dup, NC_000023.10:g.70464991_70465001dup, NC_000023.10:g.70464990_70465001dup, NC_000023.10:g.70464989_70465001dup, NC_000023.10:g.70464988_70465001dup, NC_000023.10:g.70464985_70465001dup, NC_000023.10:g.70465001_70465002insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.70464978_70465001A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_016407.1:g.15059_15070del, NG_016407.1:g.15060_15070del, NG_016407.1:g.15061_15070del, NG_016407.1:g.15062_15070del, NG_016407.1:g.15063_15070del, NG_016407.1:g.15064_15070del, NG_016407.1:g.15066_15070del, NG_016407.1:g.15067_15070del, NG_016407.1:g.15068_15070del, NG_016407.1:g.15069_15070del, NG_016407.1:g.15070del, NG_016407.1:g.15070dup, NG_016407.1:g.15069_15070dup, NG_016407.1:g.15068_15070dup, NG_016407.1:g.15067_15070dup, NG_016407.1:g.15066_15070dup, NG_016407.1:g.15065_15070dup, NG_016407.1:g.15064_15070dup, NG_016407.1:g.15063_15070dup, NG_016407.1:g.15062_15070dup, NG_016407.1:g.15061_15070dup, NG_016407.1:g.15060_15070dup, NG_016407.1:g.15059_15070dup, NG_016407.1:g.15058_15070dup, NG_016407.1:g.15057_15070dup, NG_016407.1:g.15054_15070dup, NG_016407.1:g.15070_15071insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016407.1:g.15047_15070T[32]GTTTTTTTTTTTTTTTTTTTTTTTTT[1]

                                  17.

                                  rs1488534530 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    X:71251269 (GRCh38)
                                    X:70471119 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:71251268:G:T
                                    Gene:
                                    ZMYM3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000005/1 (GnomAD_exomes)
                                    T=0.000008/2 (TOPMED)
                                    T=0.00001/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1488478613 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      X:71239174 (GRCh38)
                                      X:70459024 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:71239173:C:T
                                      Gene:
                                      ZMYM3 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000019/5 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1487346078 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        X:71252882 (GRCh38)
                                        X:70472732 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:71252881:G:A
                                        Gene:
                                        ZMYM3 (Varview), LOC105373247 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000011/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000023.11:g.71252882G>A, NC_000023.10:g.70472732G>A, NG_016407.1:g.7316C>T, NM_005096.3:c.374C>T, NM_201599.3:c.374C>T, NM_201599.2:c.374C>T, NM_001171162.1:c.374C>T, NM_001171163.1:c.374C>T, XM_005262309.5:c.374C>T, XM_005262309.4:c.374C>T, XM_005262309.3:c.374C>T, XM_005262309.2:c.374C>T, XM_005262309.1:c.374C>T, XM_011531062.4:c.374C>T, XM_011531062.3:c.374C>T, XM_011531062.2:c.374C>T, XM_011531062.1:c.374C>T, XM_005262310.4:c.374C>T, XM_005262310.3:c.374C>T, XM_005262310.2:c.374C>T, XM_005262310.1:c.374C>T, XM_047442633.1:c.374C>T, XM_047442632.1:c.374C>T, XM_047442634.1:c.374C>T, XM_047442635.1:c.374C>T, NP_005087.1:p.Pro125Leu, NP_963893.1:p.Pro125Leu, NP_001164633.1:p.Pro125Leu, NP_001164634.1:p.Pro125Leu, XP_005262366.1:p.Pro125Leu, XP_011529364.1:p.Pro125Leu, XP_005262367.1:p.Pro125Leu, XP_047298589.1:p.Pro125Leu, XP_047298588.1:p.Pro125Leu, XP_047298590.1:p.Pro125Leu, XP_047298591.1:p.Pro125Leu

                                        20.

                                        rs1486917358 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          X:71243147 (GRCh38)
                                          X:70462997 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:71243146:T:C
                                          Gene:
                                          ZMYM3 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.00001/1 (GnomAD)
                                          C=0.000015/4 (TOPMED)
                                          HGVS:

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