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Links from Gene

Items: 1 to 20 of 3210

1.

rs1490912805 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    4:17522114 (GRCh38)
    4:17523737 (GRCh37)
    Canonical SPDI:
    NC_000004.12:17522113:A:G
    Gene:
    CLRN2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1490738525 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      4:17521302 (GRCh38)
      4:17522925 (GRCh37)
      Canonical SPDI:
      NC_000004.12:17521301:G:A,NC_000004.12:17521301:G:C
      Gene:
      CLRN2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      A=0.000014/2 (GnomAD)
      A=0.000156/1 (1000Genomes)
      HGVS:
      3.

      rs1490192111 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        4:17515041 (GRCh38)
        4:17516664 (GRCh37)
        Canonical SPDI:
        NC_000004.12:17515040:T:C
        Gene:
        CLRN2 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000007/1 (GnomAD)
        C=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1490166810 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          4:17516177 (GRCh38)
          4:17517800 (GRCh37)
          Canonical SPDI:
          NC_000004.12:17516176:A:G
          Gene:
          CLRN2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1489934544 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            4:17523199 (GRCh38)
            4:17524822 (GRCh37)
            Canonical SPDI:
            NC_000004.12:17523198:C:G
            Gene:
            CLRN2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1489888369 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              4:17524076 (GRCh38)
              4:17525699 (GRCh37)
              Canonical SPDI:
              NC_000004.12:17524075:C:T
              Gene:
              CLRN2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1489575411 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                4:17516673 (GRCh38)
                4:17518296 (GRCh37)
                Canonical SPDI:
                NC_000004.12:17516672:G:C
                Gene:
                CLRN2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000021/3 (GnomAD)
                C=0.000023/6 (TOPMED)
                HGVS:
                8.

                rs1489430514 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  4:17524489 (GRCh38)
                  4:17526112 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:17524488:T:C
                  Gene:
                  CLRN2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  9.

                  rs1489227195 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    4:17523603 (GRCh38)
                    4:17525226 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:17523602:G:A
                    Gene:
                    CLRN2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1489001661 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:17524388 (GRCh38)
                      4:17526011 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:17524387:A:G
                      Gene:
                      CLRN2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1488830458 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:17519593 (GRCh38)
                        4:17521216 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:17519592:G:A
                        Gene:
                        CLRN2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000015/4 (TOPMED)
                        A=0.000016/2 (GnomAD)
                        HGVS:
                        12.

                        rs1488737929 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          4:17520548 (GRCh38)
                          4:17522171 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:17520547:A:G
                          Gene:
                          CLRN2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000023/6 (TOPMED)
                          HGVS:
                          13.

                          rs1488592201 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:17517293 (GRCh38)
                            4:17518916 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:17517292:A:G
                            Gene:
                            CLRN2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1488489654 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              4:17524527 (GRCh38)
                              4:17526150 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:17524526:G:A
                              Gene:
                              CLRN2 (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.

                              rs1487562186 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                4:17517635 (GRCh38)
                                4:17519258 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:17517634:T:C
                                Gene:
                                CLRN2 (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.

                                rs1487449766 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  4:17526103 (GRCh38)
                                  4:17527726 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:17526102:A:C
                                  Gene:
                                  CLRN2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1487299242 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    4:17514334 (GRCh38)
                                    4:17515957 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:17514333:G:A
                                    Gene:
                                    CLRN2 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1487092264 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      4:17517737 (GRCh38)
                                      4:17519360 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:17517736:G:A
                                      Gene:
                                      CLRN2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000019/5 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1486572738 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        4:17518057 (GRCh38)
                                        4:17519680 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:17518056:T:C
                                        Gene:
                                        CLRN2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1486374270 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          4:17513816 (GRCh38)
                                          4:17515439 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:17513815:T:C
                                          Gene:
                                          QDPR (Varview), CLRN2 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:

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