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Items: 1 to 20 of 11124

1.

rs1491579448 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GGCCGCT [Show Flanks]
    Chromosome:
    6:166997768 (GRCh38)
    6:167411257 (GRCh37)
    Canonical SPDI:
    NC_000006.12:166997768:T:TGGCCGCT
    Gene:
    CEP43 (Varview), MIR3939 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant
    HGVS:

    2.

    rs1491517767 has merged into rs368396376 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      6:167040039 (GRCh38)
      6:167453527 (GRCh37)
      Canonical SPDI:
      NC_000006.12:167040031:TTTTTTTTTTTT:TTTTTTT,NC_000006.12:167040031:TTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:167040031:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:167040031:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:167040031:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:167040031:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:167040031:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:167040031:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:167040031:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      CEP43 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTTT=0.00022/3 (ALFA)
      -=0.13908/536 (ALSPAC)
      -=0.1397/518 (TWINSUK)
      -=0.17591/2948 (TOMMO)
      -=0.325/13 (GENOME_DK)
      T=0.49677/77 (1000Genomes)
      HGVS:
      NC_000006.12:g.167040039_167040043del, NC_000006.12:g.167040042_167040043del, NC_000006.12:g.167040043del, NC_000006.12:g.167040043dup, NC_000006.12:g.167040042_167040043dup, NC_000006.12:g.167040041_167040043dup, NC_000006.12:g.167040040_167040043dup, NC_000006.12:g.167040039_167040043dup, NC_000006.12:g.167040043_167040044insTTTTTTTTTTTTT, NC_000006.11:g.167453527_167453531del, NC_000006.11:g.167453530_167453531del, NC_000006.11:g.167453531del, NC_000006.11:g.167453531dup, NC_000006.11:g.167453530_167453531dup, NC_000006.11:g.167453529_167453531dup, NC_000006.11:g.167453528_167453531dup, NC_000006.11:g.167453527_167453531dup, NC_000006.11:g.167453531_167453532insTTTTTTTTTTTTT, NM_007045.4:c.*61_*65del, NM_007045.4:c.*64_*65del, NM_007045.4:c.*65del, NM_007045.4:c.*65dup, NM_007045.4:c.*64_*65dup, NM_007045.4:c.*63_*65dup, NM_007045.4:c.*62_*65dup, NM_007045.4:c.*61_*65dup, NM_007045.4:c.*65_*66insTTTTTTTTTTTTT, NM_007045.3:c.*61_*65del, NM_007045.3:c.*64_*65del, NM_007045.3:c.*65del, NM_007045.3:c.*65dup, NM_007045.3:c.*64_*65dup, NM_007045.3:c.*63_*65dup, NM_007045.3:c.*62_*65dup, NM_007045.3:c.*61_*65dup, NM_007045.3:c.*65_*66insTTTTTTTTTTTTT, NM_194429.3:c.*61_*65del, NM_194429.3:c.*64_*65del, NM_194429.3:c.*65del, NM_194429.3:c.*65dup, NM_194429.3:c.*64_*65dup, NM_194429.3:c.*63_*65dup, NM_194429.3:c.*62_*65dup, NM_194429.3:c.*61_*65dup, NM_194429.3:c.*65_*66insTTTTTTTTTTTTT, NM_194429.2:c.*61_*65del, NM_194429.2:c.*64_*65del, NM_194429.2:c.*65del, NM_194429.2:c.*65dup, NM_194429.2:c.*64_*65dup, NM_194429.2:c.*63_*65dup, NM_194429.2:c.*62_*65dup, NM_194429.2:c.*61_*65dup, NM_194429.2:c.*65_*66insTTTTTTTTTTTTT

      3.

      rs1491459370 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AA>- [Show Flanks]
        Chromosome:
        6:167022259 (GRCh38)
        6:167435747 (GRCh37)
        Canonical SPDI:
        NC_000006.12:167022258:AA:
        Gene:
        CEP43 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        -=0.0669/248 (TWINSUK)
        -=0.0815/314 (ALSPAC)
        HGVS:

        4.

        rs1491375736 has merged into rs576046562 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
          Chromosome:
          6:167003185 (GRCh38)
          6:167416673 (GRCh37)
          Canonical SPDI:
          NC_000006.12:167003174:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:167003174:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:167003174:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:167003174:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:167003174:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
          Gene:
          CEP43 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTT=0.00082/21 (ALFA)
          HGVS:

          5.

          rs1491368668 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            AG>- [Show Flanks]
            Chromosome:
            6:167024163 (GRCh38)
            6:167437651 (GRCh37)
            Canonical SPDI:
            NC_000006.12:167024162:AG:
            Gene:
            CEP43 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            -=0.000023/6 (TOPMED)
            HGVS:

            6.

            rs1491359793 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TG>- [Show Flanks]
              Chromosome:
              6:167033128 (GRCh38)
              6:167446616 (GRCh37)
              Canonical SPDI:
              NC_000006.12:167033127:TG:
              Gene:
              CEP43 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0.00126/15 (ALFA)
              -=0.00017/16 (GnomAD)
              -=0.00597/168 (TOMMO)
              HGVS:

              7.

              rs1491318389 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                6:166997832 (GRCh38)
                6:167411320 (GRCh37)
                Canonical SPDI:
                NC_000006.12:166997830:ACA:A
                Gene:
                CEP43 (Varview), MIR3939 (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                -=0.02074/38 (Korea1K)
                -=0.02487/417 (TOMMO)
                -=0.06715/101 (ExAC)
                HGVS:

                8.

                rs1491288932 has merged into rs916933053 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  G>-,GG [Show Flanks]
                  Chromosome:
                  6:167024164 (GRCh38)
                  6:167437652 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:167024163:GGGGG:GGGG,NC_000006.12:167024163:GGGGG:GGGGGG
                  Gene:
                  CEP43 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GGGGGG=0./0 (ALFA)
                  -=0.000014/2 (GnomAD)
                  HGVS:

                  9.

                  rs1491252630 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AT>- [Show Flanks]
                    Chromosome:
                    6:166997683 (GRCh38)
                    6:167411171 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:166997682:AT:
                    Gene:
                    CEP43 (Varview), MIR3939 (Varview)
                    Functional Consequence:
                    downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0./0 (ALFA)
                    -=0.00003/4 (GnomAD)
                    HGVS:

                    10.

                    rs1491238002 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->TGTGTGTGTGTGT,TGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGT,TGTGTGTGTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGT,TTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGTGTGTGTGT,TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,TTTTGTGTGTGTGTGT,TTTTGTGTGTGTGTGTGTGTGT [Show Flanks]
                      Chromosome:
                      6:167042814 (GRCh38)
                      6:167456303 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:167042814:T:TTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTGTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTTGTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTTTTGTGTGTGTGTGT,NC_000006.12:167042814:T:TTTTTGTGTGTGTGTGTGTGTGT
                      Gene:
                      CEP43 (Varview)
                      Functional Consequence:
                      downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTGTGTGTGTGTGTGTGT=0./0 (ALFA)
                      HGVS:
                      NC_000006.12:g.167042815_167042816insTGTGTGTGTGTGT, NC_000006.12:g.167042815_167042816insTGTGTGTGTGTGTGT, NC_000006.12:g.167042815_167042816insTGTGTGTGTGTGTGTGT, NC_000006.12:g.167042815_167042816insTGTGTGTGTGTGTGTGTGTGTGTGT, NC_000006.12:g.167042815_167042816insTTGTGTGTGTGTGT, NC_000006.12:g.167042815_167042816insTTGTGTGTGTGTGTGT, NC_000006.12:g.167042815_167042816insTTGTGTGTGTGTGTGTGT, NC_000006.12:g.167042815_167042816insTTGTGTGTGTGTGTGTGTGT, NC_000006.12:g.167042815_167042816insTTGTGTGTGTGTGTGTGTGTGT, NC_000006.12:g.167042815_167042816insTTGTGTGTGTGTGTGTGTGTGTGT, NC_000006.12:g.167042815_167042816insTTGTGTGTGTGTGTGTGTGTGTGTGT, NC_000006.12:g.167042815_167042816insTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT, NC_000006.12:g.167042815T[5]GT[6], NC_000006.12:g.167042815T[5]GT[9], NC_000006.11:g.167456303_167456304insTGTGTGTGTGTGT, NC_000006.11:g.167456303_167456304insTGTGTGTGTGTGTGT, NC_000006.11:g.167456303_167456304insTGTGTGTGTGTGTGTGT, NC_000006.11:g.167456303_167456304insTGTGTGTGTGTGTGTGTGTGTGTGT, NC_000006.11:g.167456303_167456304insTTGTGTGTGTGTGT, NC_000006.11:g.167456303_167456304insTTGTGTGTGTGTGTGT, NC_000006.11:g.167456303_167456304insTTGTGTGTGTGTGTGTGT, NC_000006.11:g.167456303_167456304insTTGTGTGTGTGTGTGTGTGT, NC_000006.11:g.167456303_167456304insTTGTGTGTGTGTGTGTGTGTGT, NC_000006.11:g.167456303_167456304insTTGTGTGTGTGTGTGTGTGTGTGT, NC_000006.11:g.167456303_167456304insTTGTGTGTGTGTGTGTGTGTGTGTGT, NC_000006.11:g.167456303_167456304insTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT, NC_000006.11:g.167456303T[5]GT[6], NC_000006.11:g.167456303T[5]GT[9], NM_007045.4:c.*2837_*2838insTGTGTGTGTGTGT, NM_007045.4:c.*2837_*2838insTGTGTGTGTGTGTGT, NM_007045.4:c.*2837_*2838insTGTGTGTGTGTGTGTGT, NM_007045.4:c.*2837_*2838insTGTGTGTGTGTGTGTGTGTGTGTGT, NM_007045.4:c.*2837_*2838insTTGTGTGTGTGTGT, NM_007045.4:c.*2837_*2838insTTGTGTGTGTGTGTGT, NM_007045.4:c.*2837_*2838insTTGTGTGTGTGTGTGTGT, NM_007045.4:c.*2837_*2838insTTGTGTGTGTGTGTGTGTGT, NM_007045.4:c.*2837_*2838insTTGTGTGTGTGTGTGTGTGTGT, NM_007045.4:c.*2837_*2838insTTGTGTGTGTGTGTGTGTGTGTGT, NM_007045.4:c.*2837_*2838insTTGTGTGTGTGTGTGTGTGTGTGTGT, NM_007045.4:c.*2837_*2838insTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT, NM_007045.4:c.*2837T[5]GT[6], NM_007045.4:c.*2837T[5]GT[9], NM_194429.3:c.*2837_*2838insTGTGTGTGTGTGT, NM_194429.3:c.*2837_*2838insTGTGTGTGTGTGTGT, NM_194429.3:c.*2837_*2838insTGTGTGTGTGTGTGTGT, NM_194429.3:c.*2837_*2838insTGTGTGTGTGTGTGTGTGTGTGTGT, NM_194429.3:c.*2837_*2838insTTGTGTGTGTGTGT, NM_194429.3:c.*2837_*2838insTTGTGTGTGTGTGTGT, NM_194429.3:c.*2837_*2838insTTGTGTGTGTGTGTGTGT, NM_194429.3:c.*2837_*2838insTTGTGTGTGTGTGTGTGTGT, NM_194429.3:c.*2837_*2838insTTGTGTGTGTGTGTGTGTGTGT, NM_194429.3:c.*2837_*2838insTTGTGTGTGTGTGTGTGTGTGTGT, NM_194429.3:c.*2837_*2838insTTGTGTGTGTGTGTGTGTGTGTGTGT, NM_194429.3:c.*2837_*2838insTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT, NM_194429.3:c.*2837T[5]GT[6], NM_194429.3:c.*2837T[5]GT[9]

                      11.

                      rs1491208887 has merged into rs60636866 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                        Chromosome:
                        6:167042832 (GRCh38)
                        6:167456320 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:167042814:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                        Gene:
                        CEP43 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
                        -=0.175/7 (GENOME_DK)
                        HGVS:
                        NC_000006.12:g.167042816GT[8], NC_000006.12:g.167042816GT[9], NC_000006.12:g.167042816GT[10], NC_000006.12:g.167042816GT[11], NC_000006.12:g.167042816GT[13], NC_000006.12:g.167042816GT[14], NC_000006.12:g.167042816GT[15], NC_000006.12:g.167042816GT[16], NC_000006.12:g.167042816GT[17], NC_000006.12:g.167042816GT[18], NC_000006.12:g.167042816GT[19], NC_000006.12:g.167042816GT[20], NC_000006.12:g.167042816GT[21], NC_000006.12:g.167042816GT[22], NC_000006.12:g.167042816GT[23], NC_000006.12:g.167042816GT[24], NC_000006.12:g.167042816GT[25], NC_000006.12:g.167042816GT[26], NC_000006.12:g.167042816GT[27], NC_000006.12:g.167042816GT[28], NC_000006.12:g.167042816GT[29], NC_000006.12:g.167042816GT[30], NC_000006.12:g.167042816GT[31], NC_000006.12:g.167042816GT[33], NC_000006.11:g.167456304GT[8], NC_000006.11:g.167456304GT[9], NC_000006.11:g.167456304GT[10], NC_000006.11:g.167456304GT[11], NC_000006.11:g.167456304GT[13], NC_000006.11:g.167456304GT[14], NC_000006.11:g.167456304GT[15], NC_000006.11:g.167456304GT[16], NC_000006.11:g.167456304GT[17], NC_000006.11:g.167456304GT[18], NC_000006.11:g.167456304GT[19], NC_000006.11:g.167456304GT[20], NC_000006.11:g.167456304GT[21], NC_000006.11:g.167456304GT[22], NC_000006.11:g.167456304GT[23], NC_000006.11:g.167456304GT[24], NC_000006.11:g.167456304GT[25], NC_000006.11:g.167456304GT[26], NC_000006.11:g.167456304GT[27], NC_000006.11:g.167456304GT[28], NC_000006.11:g.167456304GT[29], NC_000006.11:g.167456304GT[30], NC_000006.11:g.167456304GT[31], NC_000006.11:g.167456304GT[33], NM_007045.4:c.*2838GT[8], NM_007045.4:c.*2838GT[9], NM_007045.4:c.*2838GT[10], NM_007045.4:c.*2838GT[11], NM_007045.4:c.*2838GT[13], NM_007045.4:c.*2838GT[14], NM_007045.4:c.*2838GT[15], NM_007045.4:c.*2838GT[16], NM_007045.4:c.*2838GT[17], NM_007045.4:c.*2838GT[18], NM_007045.4:c.*2838GT[19], NM_007045.4:c.*2838GT[20], NM_007045.4:c.*2838GT[21], NM_007045.4:c.*2838GT[22], NM_007045.4:c.*2838GT[23], NM_007045.4:c.*2838GT[24], NM_007045.4:c.*2838GT[25], NM_007045.4:c.*2838GT[26], NM_007045.4:c.*2838GT[27], NM_007045.4:c.*2838GT[28], NM_007045.4:c.*2838GT[29], NM_007045.4:c.*2838GT[30], NM_007045.4:c.*2838GT[31], NM_007045.4:c.*2838GT[33], NM_194429.3:c.*2838GT[8], NM_194429.3:c.*2838GT[9], NM_194429.3:c.*2838GT[10], NM_194429.3:c.*2838GT[11], NM_194429.3:c.*2838GT[13], NM_194429.3:c.*2838GT[14], NM_194429.3:c.*2838GT[15], NM_194429.3:c.*2838GT[16], NM_194429.3:c.*2838GT[17], NM_194429.3:c.*2838GT[18], NM_194429.3:c.*2838GT[19], NM_194429.3:c.*2838GT[20], NM_194429.3:c.*2838GT[21], NM_194429.3:c.*2838GT[22], NM_194429.3:c.*2838GT[23], NM_194429.3:c.*2838GT[24], NM_194429.3:c.*2838GT[25], NM_194429.3:c.*2838GT[26], NM_194429.3:c.*2838GT[27], NM_194429.3:c.*2838GT[28], NM_194429.3:c.*2838GT[29], NM_194429.3:c.*2838GT[30], NM_194429.3:c.*2838GT[31], NM_194429.3:c.*2838GT[33]

                        12.

                        rs1491175664 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->G [Show Flanks]
                          Chromosome:
                          6:167033128 (GRCh38)
                          6:167446617 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:167033128:G:GG
                          Gene:
                          CEP43 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GG=0.00025/4 (ALFA)
                          G=0.00556/421 (GnomAD)
                          HGVS:

                          13.

                          rs1490935958 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            6:166997576 (GRCh38)
                            6:167411064 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:166997575:C:A
                            Gene:
                            CEP43 (Varview), MIR3939 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000019/5 (TOPMED)
                            HGVS:

                            14.

                            rs1490777177 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              6:167026147 (GRCh38)
                              6:167439635 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:167026146:G:A
                              Gene:
                              CEP43 (Varview)
                              Functional Consequence:
                              intron_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.

                              rs1490754210 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                6:167010768 (GRCh38)
                                6:167424256 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:167010767:G:C
                                Gene:
                                CEP43 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1490728949 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->TCCT [Show Flanks]
                                  Chromosome:
                                  6:167017116 (GRCh38)
                                  6:167430605 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:167017116:TCCT:TCCTTCCT
                                  Gene:
                                  CEP43 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  TCCTTCCT=0./0 (ALFA)
                                  TCCT=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490725186 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:166998241 (GRCh38)
                                    6:167411729 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:166998240:A:G
                                    Gene:
                                    CEP43 (Varview), MIR3939 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1490492357 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      6:167034128 (GRCh38)
                                      6:167447616 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:167034127:T:C
                                      Gene:
                                      CEP43 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490472635 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:167033592 (GRCh38)
                                        6:167447080 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:167033591:A:G
                                        Gene:
                                        CEP43 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490442178 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          6:167000202 (GRCh38)
                                          6:167413690 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:167000201:A:G
                                          Gene:
                                          CEP43 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000142/2 (ALFA)
                                          G=0.00003/8 (TOPMED)
                                          G=0.000036/5 (GnomAD)
                                          HGVS:

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