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Items: 1 to 20 of 9435

1.

rs1491492677 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AT,CT [Show Flanks]
    Chromosome:
    17:40030667 (GRCh38)
    17:38186921 (GRCh37)
    Canonical SPDI:
    NC_000017.11:40030667:T:TAT,NC_000017.11:40030667:T:TCT
    Gene:
    MED24 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TAT=0.00006/1 (ALFA)
    TA=0.00011/2 (TOMMO)
    TA=0.00219/14 (1000Genomes)
    HGVS:

    2.

    rs1491489832 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AG>- [Show Flanks]
      Chromosome:
      17:40032105 (GRCh38)
      17:38188358 (GRCh37)
      Canonical SPDI:
      NC_000017.11:40032104:AG:
      Gene:
      MED24 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency
      MAF:
      -=0.000004/1 (GnomAD_exomes)
      -=0.000008/1 (ExAC)
      HGVS:

      3.

      rs1491485785 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        17:40036686 (GRCh38)
        17:38192939 (GRCh37)
        Canonical SPDI:
        NC_000017.11:40036685:CA:
        Gene:
        MED24 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00025/3 (ALFA)
        HGVS:

        4.

        rs1491333880 has merged into rs68118020 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          17:40036701 (GRCh38)
          17:38192954 (GRCh37)
          Canonical SPDI:
          NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40036686:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          MED24 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000017.11:g.40036701_40036706del, NC_000017.11:g.40036703_40036706del, NC_000017.11:g.40036704_40036706del, NC_000017.11:g.40036705_40036706del, NC_000017.11:g.40036706del, NC_000017.11:g.40036706dup, NC_000017.11:g.40036705_40036706dup, NC_000017.11:g.40036704_40036706dup, NC_000017.11:g.40036703_40036706dup, NC_000017.11:g.40036702_40036706dup, NC_000017.11:g.40036701_40036706dup, NC_000017.11:g.40036700_40036706dup, NC_000017.11:g.40036699_40036706dup, NC_000017.10:g.38192954_38192959del, NC_000017.10:g.38192956_38192959del, NC_000017.10:g.38192957_38192959del, NC_000017.10:g.38192958_38192959del, NC_000017.10:g.38192959del, NC_000017.10:g.38192959dup, NC_000017.10:g.38192958_38192959dup, NC_000017.10:g.38192957_38192959dup, NC_000017.10:g.38192956_38192959dup, NC_000017.10:g.38192955_38192959dup, NC_000017.10:g.38192954_38192959dup, NC_000017.10:g.38192953_38192959dup, NC_000017.10:g.38192952_38192959dup

          5.

          rs1491289807 has merged into rs59767650 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CACACACACACACACACACACA>-,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
            Chromosome:
            17:40019183 (GRCh38)
            17:38175436 (GRCh37)
            Canonical SPDI:
            NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000017.11:40019175:ACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA
            Gene:
            MED24 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            ACACACACACACACA=0./0 (ALFA)
            HGVS:
            NC_000017.11:g.40019177CA[3], NC_000017.11:g.40019177CA[7], NC_000017.11:g.40019177CA[8], NC_000017.11:g.40019177CA[9], NC_000017.11:g.40019177CA[10], NC_000017.11:g.40019177CA[11], NC_000017.11:g.40019177CA[12], NC_000017.11:g.40019177CA[13], NC_000017.11:g.40019177CA[15], NC_000017.11:g.40019177CA[16], NC_000017.11:g.40019177CA[17], NC_000017.11:g.40019177CA[18], NC_000017.11:g.40019177CA[19], NC_000017.11:g.40019177CA[20], NC_000017.11:g.40019177CA[21], NC_000017.11:g.40019177CA[22], NC_000017.11:g.40019177CA[23], NC_000017.11:g.40019177CA[24], NC_000017.11:g.40019177CA[25], NC_000017.11:g.40019177CA[27], NC_000017.10:g.38175430CA[3], NC_000017.10:g.38175430CA[7], NC_000017.10:g.38175430CA[8], NC_000017.10:g.38175430CA[9], NC_000017.10:g.38175430CA[10], NC_000017.10:g.38175430CA[11], NC_000017.10:g.38175430CA[12], NC_000017.10:g.38175430CA[13], NC_000017.10:g.38175430CA[15], NC_000017.10:g.38175430CA[16], NC_000017.10:g.38175430CA[17], NC_000017.10:g.38175430CA[18], NC_000017.10:g.38175430CA[19], NC_000017.10:g.38175430CA[20], NC_000017.10:g.38175430CA[21], NC_000017.10:g.38175430CA[22], NC_000017.10:g.38175430CA[23], NC_000017.10:g.38175430CA[24], NC_000017.10:g.38175430CA[25], NC_000017.10:g.38175430CA[27], NM_014815.4:c.*326GT[3], NM_014815.4:c.*326GT[7], NM_014815.4:c.*326GT[8], NM_014815.4:c.*326GT[9], NM_014815.4:c.*326GT[10], NM_014815.4:c.*326GT[11], NM_014815.4:c.*326GT[12], NM_014815.4:c.*326GT[13], NM_014815.4:c.*326GT[15], NM_014815.4:c.*326GT[16], NM_014815.4:c.*326GT[17], NM_014815.4:c.*326GT[18], NM_014815.4:c.*326GT[19], NM_014815.4:c.*326GT[20], NM_014815.4:c.*326GT[21], NM_014815.4:c.*326GT[22], NM_014815.4:c.*326GT[23], NM_014815.4:c.*326GT[24], NM_014815.4:c.*326GT[25], NM_014815.4:c.*326GT[27], NM_014815.3:c.*326GT[3], NM_014815.3:c.*326GT[7], NM_014815.3:c.*326GT[8], NM_014815.3:c.*326GT[9], NM_014815.3:c.*326GT[10], NM_014815.3:c.*326GT[11], NM_014815.3:c.*326GT[12], NM_014815.3:c.*326GT[13], NM_014815.3:c.*326GT[15], NM_014815.3:c.*326GT[16], NM_014815.3:c.*326GT[17], NM_014815.3:c.*326GT[18], NM_014815.3:c.*326GT[19], NM_014815.3:c.*326GT[20], NM_014815.3:c.*326GT[21], NM_014815.3:c.*326GT[22], NM_014815.3:c.*326GT[23], NM_014815.3:c.*326GT[24], NM_014815.3:c.*326GT[25], NM_014815.3:c.*326GT[27], NM_001330211.2:c.*326GT[3], NM_001330211.2:c.*326GT[7], NM_001330211.2:c.*326GT[8], NM_001330211.2:c.*326GT[9], NM_001330211.2:c.*326GT[10], NM_001330211.2:c.*326GT[11], NM_001330211.2:c.*326GT[12], NM_001330211.2:c.*326GT[13], NM_001330211.2:c.*326GT[15], NM_001330211.2:c.*326GT[16], NM_001330211.2:c.*326GT[17], NM_001330211.2:c.*326GT[18], NM_001330211.2:c.*326GT[19], NM_001330211.2:c.*326GT[20], NM_001330211.2:c.*326GT[21], NM_001330211.2:c.*326GT[22], NM_001330211.2:c.*326GT[23], NM_001330211.2:c.*326GT[24], NM_001330211.2:c.*326GT[25], NM_001330211.2:c.*326GT[27], NM_001330211.1:c.*326GT[3], NM_001330211.1:c.*326GT[7], NM_001330211.1:c.*326GT[8], NM_001330211.1:c.*326GT[9], NM_001330211.1:c.*326GT[10], NM_001330211.1:c.*326GT[11], NM_001330211.1:c.*326GT[12], NM_001330211.1:c.*326GT[13], NM_001330211.1:c.*326GT[15], NM_001330211.1:c.*326GT[16], NM_001330211.1:c.*326GT[17], NM_001330211.1:c.*326GT[18], NM_001330211.1:c.*326GT[19], NM_001330211.1:c.*326GT[20], NM_001330211.1:c.*326GT[21], NM_001330211.1:c.*326GT[22], NM_001330211.1:c.*326GT[23], NM_001330211.1:c.*326GT[24], NM_001330211.1:c.*326GT[25], NM_001330211.1:c.*326GT[27], NM_001079518.2:c.*326GT[3], NM_001079518.2:c.*326GT[7], NM_001079518.2:c.*326GT[8], NM_001079518.2:c.*326GT[9], NM_001079518.2:c.*326GT[10], NM_001079518.2:c.*326GT[11], NM_001079518.2:c.*326GT[12], NM_001079518.2:c.*326GT[13], NM_001079518.2:c.*326GT[15], NM_001079518.2:c.*326GT[16], NM_001079518.2:c.*326GT[17], NM_001079518.2:c.*326GT[18], NM_001079518.2:c.*326GT[19], NM_001079518.2:c.*326GT[20], NM_001079518.2:c.*326GT[21], NM_001079518.2:c.*326GT[22], NM_001079518.2:c.*326GT[23], NM_001079518.2:c.*326GT[24], NM_001079518.2:c.*326GT[25], NM_001079518.2:c.*326GT[27], NM_001079518.1:c.*326GT[3], NM_001079518.1:c.*326GT[7], NM_001079518.1:c.*326GT[8], NM_001079518.1:c.*326GT[9], NM_001079518.1:c.*326GT[10], NM_001079518.1:c.*326GT[11], NM_001079518.1:c.*326GT[12], NM_001079518.1:c.*326GT[13], NM_001079518.1:c.*326GT[15], NM_001079518.1:c.*326GT[16], NM_001079518.1:c.*326GT[17], NM_001079518.1:c.*326GT[18], NM_001079518.1:c.*326GT[19], NM_001079518.1:c.*326GT[20], NM_001079518.1:c.*326GT[21], NM_001079518.1:c.*326GT[22], NM_001079518.1:c.*326GT[23], NM_001079518.1:c.*326GT[24], NM_001079518.1:c.*326GT[25], NM_001079518.1:c.*326GT[27], NM_001267797.2:c.*326GT[3], NM_001267797.2:c.*326GT[7], NM_001267797.2:c.*326GT[8], NM_001267797.2:c.*326GT[9], NM_001267797.2:c.*326GT[10], NM_001267797.2:c.*326GT[11], NM_001267797.2:c.*326GT[12], NM_001267797.2:c.*326GT[13], NM_001267797.2:c.*326GT[15], NM_001267797.2:c.*326GT[16], NM_001267797.2:c.*326GT[17], NM_001267797.2:c.*326GT[18], NM_001267797.2:c.*326GT[19], NM_001267797.2:c.*326GT[20], NM_001267797.2:c.*326GT[21], NM_001267797.2:c.*326GT[22], NM_001267797.2:c.*326GT[23], NM_001267797.2:c.*326GT[24], NM_001267797.2:c.*326GT[25], NM_001267797.2:c.*326GT[27], NM_001267797.1:c.*326GT[3], NM_001267797.1:c.*326GT[7], NM_001267797.1:c.*326GT[8], NM_001267797.1:c.*326GT[9], NM_001267797.1:c.*326GT[10], NM_001267797.1:c.*326GT[11], NM_001267797.1:c.*326GT[12], NM_001267797.1:c.*326GT[13], NM_001267797.1:c.*326GT[15], NM_001267797.1:c.*326GT[16], NM_001267797.1:c.*326GT[17], NM_001267797.1:c.*326GT[18], NM_001267797.1:c.*326GT[19], NM_001267797.1:c.*326GT[20], NM_001267797.1:c.*326GT[21], NM_001267797.1:c.*326GT[22], NM_001267797.1:c.*326GT[23], NM_001267797.1:c.*326GT[24], NM_001267797.1:c.*326GT[25], NM_001267797.1:c.*326GT[27], NR_052017.2:n.3307GT[3], NR_052017.2:n.3307GT[7], NR_052017.2:n.3307GT[8], NR_052017.2:n.3307GT[9], NR_052017.2:n.3307GT[10], NR_052017.2:n.3307GT[11], NR_052017.2:n.3307GT[12], NR_052017.2:n.3307GT[13], NR_052017.2:n.3307GT[15], NR_052017.2:n.3307GT[16], NR_052017.2:n.3307GT[17], NR_052017.2:n.3307GT[18], NR_052017.2:n.3307GT[19], NR_052017.2:n.3307GT[20], NR_052017.2:n.3307GT[21], NR_052017.2:n.3307GT[22], NR_052017.2:n.3307GT[23], NR_052017.2:n.3307GT[24], NR_052017.2:n.3307GT[25], NR_052017.2:n.3307GT[27], NR_052017.1:n.3535GT[3], NR_052017.1:n.3535GT[7], NR_052017.1:n.3535GT[8], NR_052017.1:n.3535GT[9], NR_052017.1:n.3535GT[10], NR_052017.1:n.3535GT[11], NR_052017.1:n.3535GT[12], NR_052017.1:n.3535GT[13], NR_052017.1:n.3535GT[15], NR_052017.1:n.3535GT[16], NR_052017.1:n.3535GT[17], NR_052017.1:n.3535GT[18], NR_052017.1:n.3535GT[19], NR_052017.1:n.3535GT[20], NR_052017.1:n.3535GT[21], NR_052017.1:n.3535GT[22], NR_052017.1:n.3535GT[23], NR_052017.1:n.3535GT[24], NR_052017.1:n.3535GT[25], NR_052017.1:n.3535GT[27]

            6.

            rs1491274683 has merged into rs34021774 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
              Chromosome:
              17:40030673 (GRCh38)
              17:38186926 (GRCh37)
              Canonical SPDI:
              NC_000017.11:40030666:TTTTTTTTTT:TTTTTT,NC_000017.11:40030666:TTTTTTTTTT:TTTTTTTT,NC_000017.11:40030666:TTTTTTTTTT:TTTTTTTTT,NC_000017.11:40030666:TTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:40030666:TTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:40030666:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:40030666:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:40030666:TTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:40030666:TTTTTTTTTT:TTTTTTTTTTTTTTTT
              Gene:
              MED24 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTT=0./0 (ALFA)
              T=0.00169/1 (NorthernSweden)
              TT=0.0022/4 (Korea1K)
              HGVS:

              7.

              rs1491238318 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->C [Show Flanks]
                Chromosome:
                17:40019174 (GRCh38)
                17:38175428 (GRCh37)
                Canonical SPDI:
                NC_000017.11:40019174::C
                Gene:
                MED24 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                C=0.00011/3 (TOMMO)
                HGVS:

                8.

                rs1491099563 has merged into rs5820328 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  17:40044889 (GRCh38)
                  17:38201142 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  MED24 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAAAAA=0./0 (ALFA)
                  -=0.3/12 (GENOME_DK)
                  -=0.3464/1735 (1000Genomes)
                  -=0.3868/229 (NorthernSweden)
                  HGVS:

                  9.

                  rs1491069128 has merged into rs1555662004 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TA>-,TATA,TATATA [Show Flanks]
                    Chromosome:
                    17:40019205 (GRCh38)
                    17:38175458 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:40019203:ATA:A,NC_000017.11:40019203:ATA:ATATA,NC_000017.11:40019203:ATA:ATATATA
                    Gene:
                    MED24 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    ATATA=0./0 (ALFA)
                    AT=0.00167/1 (NorthernSweden)
                    AT=0.00382/7 (Korea1K)
                    HGVS:
                    NC_000017.11:g.40019205_40019206del, NC_000017.11:g.40019205_40019206dup, NC_000017.11:g.40019205TA[3], NC_000017.10:g.38175458_38175459del, NC_000017.10:g.38175458_38175459dup, NC_000017.10:g.38175458TA[3], NM_014815.4:c.*324_*325del, NM_014815.4:c.*324_*325dup, NM_014815.4:c.*324AT[3], NM_014815.3:c.*324_*325del, NM_014815.3:c.*324_*325dup, NM_014815.3:c.*324AT[3], NM_001330211.2:c.*324_*325del, NM_001330211.2:c.*324_*325dup, NM_001330211.2:c.*324AT[3], NM_001330211.1:c.*324_*325del, NM_001330211.1:c.*324_*325dup, NM_001330211.1:c.*324AT[3], NM_001079518.2:c.*324_*325del, NM_001079518.2:c.*324_*325dup, NM_001079518.2:c.*324AT[3], NM_001079518.1:c.*324_*325del, NM_001079518.1:c.*324_*325dup, NM_001079518.1:c.*324AT[3], NM_001267797.2:c.*324_*325del, NM_001267797.2:c.*324_*325dup, NM_001267797.2:c.*324AT[3], NM_001267797.1:c.*324_*325del, NM_001267797.1:c.*324_*325dup, NM_001267797.1:c.*324AT[3], NR_052017.2:n.3305_3306del, NR_052017.2:n.3305_3306dup, NR_052017.2:n.3305AT[3], NR_052017.1:n.3533_3534del, NR_052017.1:n.3533_3534dup, NR_052017.1:n.3533AT[3]

                    10.

                    rs1491030948 has merged into rs5820328 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      17:40044889 (GRCh38)
                      17:38201142 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:40044878:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      MED24 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAAAA=0./0 (ALFA)
                      -=0.3/12 (GENOME_DK)
                      -=0.3464/1735 (1000Genomes)
                      -=0.3868/229 (NorthernSweden)
                      HGVS:

                      11.

                      rs1490834304 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        17:40031260 (GRCh38)
                        17:38187513 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:40031259:G:A,NC_000017.11:40031259:G:C
                        Gene:
                        MED24 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        C=0.000012/2 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1490738558 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          17:40042706 (GRCh38)
                          17:38198959 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:40042705:A:C
                          Gene:
                          MED24 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490713240 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            17:40044562 (GRCh38)
                            17:38200815 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:40044561:A:G
                            Gene:
                            MED24 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            G=0.000014/2 (GnomAD)
                            HGVS:

                            14.

                            rs1490615662 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              17:40030122 (GRCh38)
                              17:38186375 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:40030121:T:C
                              Gene:
                              MED24 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1490590407 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:40042351 (GRCh38)
                                17:38198604 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:40042350:T:C
                                Gene:
                                MED24 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490567149 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C,G [Show Flanks]
                                  Chromosome:
                                  17:40043336 (GRCh38)
                                  17:38199589 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:40043335:A:C,NC_000017.11:40043335:A:G
                                  Gene:
                                  MED24 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490473881 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->A [Show Flanks]
                                    Chromosome:
                                    17:40035610 (GRCh38)
                                    17:38191864 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:40035610:AAAAAA:AAAAAAA
                                    Gene:
                                    MED24 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAA=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000546/1 (Korea1K)
                                    HGVS:

                                    18.

                                    rs1490435497 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:40020934 (GRCh38)
                                      17:38177187 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:40020933:G:A
                                      Gene:
                                      MED24 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000014/2 (GnomAD)
                                      A=0.00003/8 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490420427 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        17:40020035 (GRCh38)
                                        17:38176288 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:40020034:C:G
                                        Gene:
                                        MED24 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490295037 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:40027014 (GRCh38)
                                          17:38183267 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:40027013:G:A
                                          Gene:
                                          MED24 (Varview), MIR6884 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000111/1 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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