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Items: 1 to 20 of 6892

1.

rs1491546295 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->CTGT [Show Flanks]
    Chromosome:
    2:72151071 (GRCh38)
    2:72378201 (GRCh37)
    Canonical SPDI:
    NC_000002.12:72151071::CTGT
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CTGT=0./0 (ALFA)
    CTGT=0.000014/2 (GnomAD)
    CTGT=0.000015/4 (TOPMED)
    HGVS:
    2.

    rs1491502486 has merged into rs60831202 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA [Show Flanks]
      Chromosome:
      2:72152024 (GRCh38)
      2:72379153 (GRCh37)
      Canonical SPDI:
      NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CACACACACACACACACA=0./0 (ALFA)
      HGVS:
      NC_000002.12:g.72152006CA[9], NC_000002.12:g.72152006CA[10], NC_000002.12:g.72152006CA[11], NC_000002.12:g.72152006CA[12], NC_000002.12:g.72152006CA[13], NC_000002.12:g.72152006CA[14], NC_000002.12:g.72152006CA[15], NC_000002.12:g.72152006CA[16], NC_000002.12:g.72152006CA[17], NC_000002.12:g.72152006CA[18], NC_000002.12:g.72152006CA[19], NC_000002.12:g.72152006CA[20], NC_000002.12:g.72152006CA[21], NC_000002.12:g.72152006CA[22], NC_000002.12:g.72152006CA[24], NC_000002.12:g.72152006CA[25], NC_000002.12:g.72152006CA[26], NC_000002.12:g.72152006CA[27], NC_000002.12:g.72152006CA[28], NC_000002.12:g.72152006CA[29], NC_000002.11:g.72379135CA[9], NC_000002.11:g.72379135CA[10], NC_000002.11:g.72379135CA[11], NC_000002.11:g.72379135CA[12], NC_000002.11:g.72379135CA[13], NC_000002.11:g.72379135CA[14], NC_000002.11:g.72379135CA[15], NC_000002.11:g.72379135CA[16], NC_000002.11:g.72379135CA[17], NC_000002.11:g.72379135CA[18], NC_000002.11:g.72379135CA[19], NC_000002.11:g.72379135CA[20], NC_000002.11:g.72379135CA[21], NC_000002.11:g.72379135CA[22], NC_000002.11:g.72379135CA[24], NC_000002.11:g.72379135CA[25], NC_000002.11:g.72379135CA[26], NC_000002.11:g.72379135CA[27], NC_000002.11:g.72379135CA[28], NC_000002.11:g.72379135CA[29], NG_007957.1:g.784TG[9], NG_007957.1:g.784TG[10], NG_007957.1:g.784TG[11], NG_007957.1:g.784TG[12], NG_007957.1:g.784TG[13], NG_007957.1:g.784TG[14], NG_007957.1:g.784TG[15], NG_007957.1:g.784TG[16], NG_007957.1:g.784TG[17], NG_007957.1:g.784TG[18], NG_007957.1:g.784TG[19], NG_007957.1:g.784TG[20], NG_007957.1:g.784TG[21], NG_007957.1:g.784TG[22], NG_007957.1:g.784TG[24], NG_007957.1:g.784TG[25], NG_007957.1:g.784TG[26], NG_007957.1:g.784TG[27], NG_007957.1:g.784TG[28], NG_007957.1:g.784TG[29]
      3.

      rs1491449319 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CC>- [Show Flanks]
        Chromosome:
        2:72152005 (GRCh38)
        2:72379134 (GRCh37)
        Canonical SPDI:
        NC_000002.12:72152004:CC:
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.00015/13 (GnomAD)
        HGVS:
        4.

        rs1491422806 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->ACAACACAACACACACACAACACACAC [Show Flanks]
          Chromosome:
          2:72149253 (GRCh38)
          2:72376383 (GRCh37)
          Canonical SPDI:
          NC_000002.12:72149253:ACACACACACAACACACAC:ACACACACACAACACACACACAACACAACACACACACAACACACAC
          Gene:
          CYP26B1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ACACACACACAACACACACACAACACAACACACACACAACACACAC=0.000084/1 (ALFA)
          ACACACACACAACACACACACAACACA=0.000857/120 (GnomAD)
          HGVS:
          5.

          rs1491197551 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->CAGA [Show Flanks]
            Chromosome:
            2:72152050 (GRCh38)
            2:72379180 (GRCh37)
            Canonical SPDI:
            NC_000002.12:72152050:A:ACAGA
            Validated:
            by frequency,by alfa
            MAF:
            ACAGA=0./0 (ALFA)
            ACAG=0.000008/1 (GnomAD)
            HGVS:
            6.

            rs1491150482 has merged into rs1016270719 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CACA>-,CA,CACACA [Show Flanks]
              Chromosome:
              2:72149261 (GRCh38)
              2:72376390 (GRCh37)
              Canonical SPDI:
              NC_000002.12:72149252:CACACACACACA:CACACACA,NC_000002.12:72149252:CACACACACACA:CACACACACA,NC_000002.12:72149252:CACACACACACA:CACACACACACACA
              Gene:
              CYP26B1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CACACACACA=0./0 (ALFA)
              -=0.000034/9 (TOPMED)
              CA=0.000035/1 (TOMMO)
              CA=0.004739/1 (Vietnamese)
              HGVS:
              7.

              rs1490906017 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                2:72146749 (GRCh38)
                2:72373878 (GRCh37)
                Canonical SPDI:
                NC_000002.12:72146748:C:G
                Gene:
                CYP26B1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1490877854 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  2:72133763 (GRCh38)
                  2:72360892 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:72133762:C:A
                  Gene:
                  CYP26B1 (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:
                  9.

                  rs1490795658 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    A>- [Show Flanks]
                    Chromosome:
                    2:72152358 (GRCh38)
                    2:72379487 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:72152357:A:
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0./0 (ALFA)
                    -=0.000023/6 (TOPMED)
                    -=0.000036/5 (GnomAD)
                    HGVS:
                    10.

                    rs1490618969 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G [Show Flanks]
                      Chromosome:
                      2:72140708 (GRCh38)
                      2:72367837 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:72140707:C:A,NC_000002.12:72140707:C:G
                      Gene:
                      CYP26B1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      11.

                      rs1490413782 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:72137250 (GRCh38)
                        2:72364379 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:72137249:G:A
                        Gene:
                        CYP26B1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490408430 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          2:72139097 (GRCh38)
                          2:72366226 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:72139096:T:C
                          Gene:
                          CYP26B1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1490388677 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:72134239 (GRCh38)
                            2:72361368 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:72134238:C:T
                            Gene:
                            CYP26B1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1490327158 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G [Show Flanks]
                              Chromosome:
                              2:72139855 (GRCh38)
                              2:72366984 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:72139854:C:A,NC_000002.12:72139854:C:G
                              Gene:
                              CYP26B1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490306394 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                2:72151352 (GRCh38)
                                2:72378481 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:72151351:G:C
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490164536 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  2:72147598 (GRCh38)
                                  2:72374727 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:72147597:C:G
                                  Gene:
                                  CYP26B1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_upstream_transcript_variant
                                  HGVS:
                                  17.

                                  rs1490103258 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:72135535 (GRCh38)
                                    2:72362664 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:72135534:G:A
                                    Gene:
                                    CYP26B1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000029/4 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490087226 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      2:72146392 (GRCh38)
                                      2:72373521 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:72146391:A:T
                                      Gene:
                                      CYP26B1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490059996 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:72133341 (GRCh38)
                                        2:72360470 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:72133340:T:C
                                        Gene:
                                        CYP26B1 (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:
                                        20.

                                        rs1489820411 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          2:72152046 (GRCh38)
                                          2:72379175 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:72152045:C:G
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:

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