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Items: 1 to 20 of 447

1.

rs1488633723 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:108947643 (GRCh38)
    1:109490265 (GRCh37)
    Canonical SPDI:
    NC_000001.11:108947642:T:C
    Gene:
    CLCC1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.108947643T>C, NC_000001.10:g.109490265T>C, NM_015127.5:c.307A>G, NM_015127.4:c.307A>G, NM_001048210.3:c.307A>G, NM_001048210.2:c.307A>G, NM_001278202.2:c.307A>G, NM_001278202.1:c.307A>G, NR_165299.1:n.603A>G, NM_001377470.1:c.-156A>G, NM_001377459.1:c.307A>G, NM_001377458.1:c.307A>G, NM_001377468.1:c.307A>G, NM_001377465.1:c.307A>G, NM_001377466.1:c.307A>G, NM_001377467.1:c.307A>G, NM_001377460.1:c.307A>G, NM_001377461.1:c.307A>G, NM_001377463.1:c.307A>G, NM_001377462.1:c.307A>G, NM_001377464.1:c.307A>G, NM_001377469.1:c.205A>G, NM_001278203.1:c.307A>G, NP_055942.1:p.Lys103Glu, NP_001041675.1:p.Lys103Glu, NP_001265131.1:p.Lys103Glu, NP_001364388.1:p.Lys103Glu, NP_001364387.1:p.Lys103Glu, NP_001364397.1:p.Lys103Glu, NP_001364394.1:p.Lys103Glu, NP_001364395.1:p.Lys103Glu, NP_001364396.1:p.Lys103Glu, NP_001364389.1:p.Lys103Glu, NP_001364390.1:p.Lys103Glu, NP_001364392.1:p.Lys103Glu, NP_001364391.1:p.Lys103Glu, NP_001364393.1:p.Lys103Glu, NP_001364398.1:p.Lys69Glu, NP_001265132.1:p.Lys103Glu

    2.

    rs1488108011 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      1:108940077 (GRCh38)
      1:109482700 (GRCh37)
      Canonical SPDI:
      NC_000001.11:108940077:T:TT
      Gene:
      CLCC1 (Varview)
      Functional Consequence:
      frameshift_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TT=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.108940078dup, NC_000001.10:g.109482700dup, NM_015127.5:c.711dup, NM_015127.4:c.711dup, NM_001048210.3:c.861dup, NM_001048210.2:c.861dup, NM_001278202.2:c.498dup, NM_001278202.1:c.498dup, NR_165299.1:n.1328dup, NM_001377470.1:c.570dup, NM_001377459.1:c.861dup, NM_001377458.1:c.861dup, NM_001377468.1:c.861dup, NM_001377465.1:c.861dup, NM_001377466.1:c.861dup, NM_001377467.1:c.861dup, NM_001377460.1:c.861dup, NM_001377461.1:c.861dup, NM_001377463.1:c.861dup, NM_001377462.1:c.861dup, NM_001377464.1:c.861dup, NM_001377469.1:c.759dup, NP_055942.1:p.Val238fs, NP_001041675.1:p.Val288fs, NP_001265131.1:p.Val167fs, NP_001364399.1:p.Val191fs, NP_001364388.1:p.Val288fs, NP_001364387.1:p.Val288fs, NP_001364397.1:p.Val288fs, NP_001364394.1:p.Val288fs, NP_001364395.1:p.Val288fs, NP_001364396.1:p.Val288fs, NP_001364389.1:p.Val288fs, NP_001364390.1:p.Val288fs, NP_001364392.1:p.Val288fs, NP_001364391.1:p.Val288fs, NP_001364393.1:p.Val288fs, NP_001364398.1:p.Val254fs

      3.

      rs1482603503 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:108941446 (GRCh38)
        1:109484068 (GRCh37)
        Canonical SPDI:
        NC_000001.11:108941445:T:C
        Gene:
        CLCC1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000001.11:g.108941446T>C, NC_000001.10:g.109484068T>C, NM_015127.5:c.605A>G, NM_015127.4:c.605A>G, NM_001048210.3:c.755A>G, NM_001048210.2:c.755A>G, NM_001278202.2:c.392A>G, NM_001278202.1:c.392A>G, NR_165299.1:n.1222A>G, NM_001377470.1:c.464A>G, NM_001377459.1:c.755A>G, NM_001377458.1:c.755A>G, NM_001377468.1:c.755A>G, NM_001377465.1:c.755A>G, NM_001377466.1:c.755A>G, NM_001377467.1:c.755A>G, NM_001377460.1:c.755A>G, NM_001377461.1:c.755A>G, NM_001377463.1:c.755A>G, NM_001377462.1:c.755A>G, NM_001377464.1:c.755A>G, NM_001377469.1:c.653A>G, NP_055942.1:p.Asn202Ser, NP_001041675.1:p.Asn252Ser, NP_001265131.1:p.Asn131Ser, NP_001364399.1:p.Asn155Ser, NP_001364388.1:p.Asn252Ser, NP_001364387.1:p.Asn252Ser, NP_001364397.1:p.Asn252Ser, NP_001364394.1:p.Asn252Ser, NP_001364395.1:p.Asn252Ser, NP_001364396.1:p.Asn252Ser, NP_001364389.1:p.Asn252Ser, NP_001364390.1:p.Asn252Ser, NP_001364392.1:p.Asn252Ser, NP_001364391.1:p.Asn252Ser, NP_001364393.1:p.Asn252Ser, NP_001364398.1:p.Asn218Ser

        4.

        rs1482550396 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CTTAT>- [Show Flanks]
          Chromosome:
          1:108949820 (GRCh38)
          1:109492442 (GRCh37)
          Canonical SPDI:
          NC_000001.11:108949819:CTTAT:
          Gene:
          CLCC1 (Varview)
          Functional Consequence:
          stop_gained,intron_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.108949820_108949824del, NC_000001.10:g.109492442_109492446del, NM_015127.5:c.229_233del, NM_015127.4:c.229_233del, NM_001048210.3:c.229_233del, NM_001048210.2:c.229_233del, NM_001278202.2:c.229_233del, NM_001278202.1:c.229_233del, NR_165299.1:n.525_529del, NM_001377470.1:c.-234_-230del, NM_001377459.1:c.229_233del, NM_001377458.1:c.229_233del, NM_001377468.1:c.229_233del, NM_001377465.1:c.229_233del, NM_001377466.1:c.229_233del, NM_001377467.1:c.229_233del, NM_001377460.1:c.229_233del, NM_001377461.1:c.229_233del, NM_001377463.1:c.229_233del, NM_001377462.1:c.229_233del, NM_001377464.1:c.229_233del, NM_001278203.1:c.229_233del, NP_055942.1:p.Tyr76_Lys77insTer, NP_001041675.1:p.Tyr76_Lys77insTer, NP_001265131.1:p.Tyr76_Lys77insTer, NP_001364388.1:p.Tyr76_Lys77insTer, NP_001364387.1:p.Tyr76_Lys77insTer, NP_001364397.1:p.Tyr76_Lys77insTer, NP_001364394.1:p.Tyr76_Lys77insTer, NP_001364395.1:p.Tyr76_Lys77insTer, NP_001364396.1:p.Tyr76_Lys77insTer, NP_001364389.1:p.Tyr76_Lys77insTer, NP_001364390.1:p.Tyr76_Lys77insTer, NP_001364392.1:p.Tyr76_Lys77insTer, NP_001364391.1:p.Tyr76_Lys77insTer, NP_001364393.1:p.Tyr76_Lys77insTer, NP_001265132.1:p.Tyr76_Lys77insTer

          5.

          rs1480493500 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:108950334 (GRCh38)
            1:109492956 (GRCh37)
            Canonical SPDI:
            NC_000001.11:108950333:G:A
            Gene:
            CLCC1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000071/1 (ALFA)
            A=0.000015/4 (TOPMED)
            HGVS:
            NC_000001.11:g.108950334G>A, NC_000001.10:g.109492956G>A, NM_015127.5:c.104C>T, NM_015127.4:c.104C>T, NM_001048210.3:c.104C>T, NM_001048210.2:c.104C>T, NM_001278202.2:c.104C>T, NM_001278202.1:c.104C>T, NR_165299.1:n.400C>T, NM_001377470.1:c.-359C>T, NM_001377459.1:c.104C>T, NM_001377458.1:c.104C>T, NM_001377468.1:c.104C>T, NM_001377465.1:c.104C>T, NM_001377466.1:c.104C>T, NM_001377467.1:c.104C>T, NM_001377460.1:c.104C>T, NM_001377461.1:c.104C>T, NM_001377463.1:c.104C>T, NM_001377462.1:c.104C>T, NM_001377464.1:c.104C>T, NM_001377469.1:c.104C>T, NM_001278203.1:c.104C>T, NP_055942.1:p.Ala35Val, NP_001041675.1:p.Ala35Val, NP_001265131.1:p.Ala35Val, NP_001364388.1:p.Ala35Val, NP_001364387.1:p.Ala35Val, NP_001364397.1:p.Ala35Val, NP_001364394.1:p.Ala35Val, NP_001364395.1:p.Ala35Val, NP_001364396.1:p.Ala35Val, NP_001364389.1:p.Ala35Val, NP_001364390.1:p.Ala35Val, NP_001364392.1:p.Ala35Val, NP_001364391.1:p.Ala35Val, NP_001364393.1:p.Ala35Val, NP_001364398.1:p.Ala35Val, NP_001265132.1:p.Ala35Val

            6.

            rs1477781692 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:108940113 (GRCh38)
              1:109482735 (GRCh37)
              Canonical SPDI:
              NC_000001.11:108940112:C:T
              Gene:
              CLCC1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.108940113C>T, NC_000001.10:g.109482735C>T, NM_015127.5:c.676G>A, NM_015127.4:c.676G>A, NM_001048210.3:c.826G>A, NM_001048210.2:c.826G>A, NM_001278202.2:c.463G>A, NM_001278202.1:c.463G>A, NR_165299.1:n.1293G>A, NM_001377470.1:c.535G>A, NM_001377459.1:c.826G>A, NM_001377458.1:c.826G>A, NM_001377468.1:c.826G>A, NM_001377465.1:c.826G>A, NM_001377466.1:c.826G>A, NM_001377467.1:c.826G>A, NM_001377460.1:c.826G>A, NM_001377461.1:c.826G>A, NM_001377463.1:c.826G>A, NM_001377462.1:c.826G>A, NM_001377464.1:c.826G>A, NM_001377469.1:c.724G>A, NP_055942.1:p.Asp226Asn, NP_001041675.1:p.Asp276Asn, NP_001265131.1:p.Asp155Asn, NP_001364399.1:p.Asp179Asn, NP_001364388.1:p.Asp276Asn, NP_001364387.1:p.Asp276Asn, NP_001364397.1:p.Asp276Asn, NP_001364394.1:p.Asp276Asn, NP_001364395.1:p.Asp276Asn, NP_001364396.1:p.Asp276Asn, NP_001364389.1:p.Asp276Asn, NP_001364390.1:p.Asp276Asn, NP_001364392.1:p.Asp276Asn, NP_001364391.1:p.Asp276Asn, NP_001364393.1:p.Asp276Asn, NP_001364398.1:p.Asp242Asn

              7.

              rs1476793970 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:108950335 (GRCh38)
                1:109492957 (GRCh37)
                Canonical SPDI:
                NC_000001.11:108950334:C:T
                Gene:
                CLCC1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.108950335C>T, NC_000001.10:g.109492957C>T, NM_015127.5:c.103G>A, NM_015127.4:c.103G>A, NM_001048210.3:c.103G>A, NM_001048210.2:c.103G>A, NM_001278202.2:c.103G>A, NM_001278202.1:c.103G>A, NR_165299.1:n.399G>A, NM_001377470.1:c.-360G>A, NM_001377459.1:c.103G>A, NM_001377458.1:c.103G>A, NM_001377468.1:c.103G>A, NM_001377465.1:c.103G>A, NM_001377466.1:c.103G>A, NM_001377467.1:c.103G>A, NM_001377460.1:c.103G>A, NM_001377461.1:c.103G>A, NM_001377463.1:c.103G>A, NM_001377462.1:c.103G>A, NM_001377464.1:c.103G>A, NM_001377469.1:c.103G>A, NM_001278203.1:c.103G>A, NP_055942.1:p.Ala35Thr, NP_001041675.1:p.Ala35Thr, NP_001265131.1:p.Ala35Thr, NP_001364388.1:p.Ala35Thr, NP_001364387.1:p.Ala35Thr, NP_001364397.1:p.Ala35Thr, NP_001364394.1:p.Ala35Thr, NP_001364395.1:p.Ala35Thr, NP_001364396.1:p.Ala35Thr, NP_001364389.1:p.Ala35Thr, NP_001364390.1:p.Ala35Thr, NP_001364392.1:p.Ala35Thr, NP_001364391.1:p.Ala35Thr, NP_001364393.1:p.Ala35Thr, NP_001364398.1:p.Ala35Thr, NP_001265132.1:p.Ala35Thr

                8.

                rs1474553218 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  1:108937177 (GRCh38)
                  1:109479799 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:108937176:A:C
                  Gene:
                  CLCC1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  C=0.000021/3 (GnomAD)
                  HGVS:
                  NC_000001.11:g.108937177A>C, NC_000001.10:g.109479799A>C, NM_015127.5:c.1133T>G, NM_015127.4:c.1133T>G, NM_001048210.3:c.1283T>G, NM_001048210.2:c.1283T>G, NM_001278202.2:c.920T>G, NM_001278202.1:c.920T>G, NR_165299.1:n.1893T>G, NM_001377470.1:c.992T>G, NM_001377459.1:c.1283T>G, NM_001377458.1:c.1283T>G, NM_001377468.1:c.1283T>G, NM_001377465.1:c.1283T>G, NM_001377466.1:c.1283T>G, NM_001377467.1:c.1283T>G, NM_001377460.1:c.1283T>G, NM_001377461.1:c.1283T>G, NM_001377463.1:c.1283T>G, NM_001377462.1:c.1283T>G, NM_001377464.1:c.1283T>G, NM_001377469.1:c.1181T>G, NM_001278203.1:c.728T>G, NP_055942.1:p.Val378Gly, NP_001041675.1:p.Val428Gly, NP_001265131.1:p.Val307Gly, NP_001364399.1:p.Val331Gly, NP_001364388.1:p.Val428Gly, NP_001364387.1:p.Val428Gly, NP_001364397.1:p.Val428Gly, NP_001364394.1:p.Val428Gly, NP_001364395.1:p.Val428Gly, NP_001364396.1:p.Val428Gly, NP_001364389.1:p.Val428Gly, NP_001364390.1:p.Val428Gly, NP_001364392.1:p.Val428Gly, NP_001364391.1:p.Val428Gly, NP_001364393.1:p.Val428Gly, NP_001364398.1:p.Val394Gly, NP_001265132.1:p.Val243Gly

                  9.

                  rs1470457945 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    1:108939714 (GRCh38)
                    1:109482336 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:108939713:T:G
                    Gene:
                    CLCC1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.108939714T>G, NC_000001.10:g.109482336T>G, NM_015127.5:c.813A>C, NM_015127.4:c.813A>C, NM_001048210.3:c.963A>C, NM_001048210.2:c.963A>C, NM_001278202.2:c.600A>C, NM_001278202.1:c.600A>C, NR_165299.1:n.1430A>C, NM_001377470.1:c.672A>C, NM_001377459.1:c.963A>C, NM_001377458.1:c.963A>C, NM_001377468.1:c.963A>C, NM_001377465.1:c.963A>C, NM_001377466.1:c.963A>C, NM_001377467.1:c.963A>C, NM_001377460.1:c.963A>C, NM_001377461.1:c.963A>C, NM_001377463.1:c.963A>C, NM_001377462.1:c.963A>C, NM_001377464.1:c.963A>C, NM_001377469.1:c.861A>C, NM_001278203.1:c.408A>C, NP_055942.1:p.Glu271Asp, NP_001041675.1:p.Glu321Asp, NP_001265131.1:p.Glu200Asp, NP_001364399.1:p.Glu224Asp, NP_001364388.1:p.Glu321Asp, NP_001364387.1:p.Glu321Asp, NP_001364397.1:p.Glu321Asp, NP_001364394.1:p.Glu321Asp, NP_001364395.1:p.Glu321Asp, NP_001364396.1:p.Glu321Asp, NP_001364389.1:p.Glu321Asp, NP_001364390.1:p.Glu321Asp, NP_001364392.1:p.Glu321Asp, NP_001364391.1:p.Glu321Asp, NP_001364393.1:p.Glu321Asp, NP_001364398.1:p.Glu287Asp, NP_001265132.1:p.Glu136Asp

                    10.

                    rs1466927611 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:108940096 (GRCh38)
                      1:109482718 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:108940095:T:C
                      Gene:
                      CLCC1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000071/1 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000011/3 (TOPMED)
                      HGVS:

                      11.

                      rs1458814977 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:108937369 (GRCh38)
                        1:109479991 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:108937368:C:T
                        Gene:
                        CLCC1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000001.11:g.108937369C>T, NC_000001.10:g.109479991C>T, NM_015127.5:c.941G>A, NM_015127.4:c.941G>A, NM_001048210.3:c.1091G>A, NM_001048210.2:c.1091G>A, NM_001278202.2:c.728G>A, NM_001278202.1:c.728G>A, NR_165299.1:n.1701G>A, NM_001377470.1:c.800G>A, NM_001377459.1:c.1091G>A, NM_001377458.1:c.1091G>A, NM_001377468.1:c.1091G>A, NM_001377465.1:c.1091G>A, NM_001377466.1:c.1091G>A, NM_001377467.1:c.1091G>A, NM_001377460.1:c.1091G>A, NM_001377461.1:c.1091G>A, NM_001377463.1:c.1091G>A, NM_001377462.1:c.1091G>A, NM_001377464.1:c.1091G>A, NM_001377469.1:c.989G>A, NM_001278203.1:c.536G>A, NP_055942.1:p.Gly314Asp, NP_001041675.1:p.Gly364Asp, NP_001265131.1:p.Gly243Asp, NP_001364399.1:p.Gly267Asp, NP_001364388.1:p.Gly364Asp, NP_001364387.1:p.Gly364Asp, NP_001364397.1:p.Gly364Asp, NP_001364394.1:p.Gly364Asp, NP_001364395.1:p.Gly364Asp, NP_001364396.1:p.Gly364Asp, NP_001364389.1:p.Gly364Asp, NP_001364390.1:p.Gly364Asp, NP_001364392.1:p.Gly364Asp, NP_001364391.1:p.Gly364Asp, NP_001364393.1:p.Gly364Asp, NP_001364398.1:p.Gly330Asp, NP_001265132.1:p.Gly179Asp

                        12.

                        rs1458347719 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          1:108941425 (GRCh38)
                          1:109484047 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:108941424:T:C
                          Gene:
                          CLCC1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.108941425T>C, NC_000001.10:g.109484047T>C, NM_015127.5:c.626A>G, NM_015127.4:c.626A>G, NM_001048210.3:c.776A>G, NM_001048210.2:c.776A>G, NM_001278202.2:c.413A>G, NM_001278202.1:c.413A>G, NR_165299.1:n.1243A>G, NM_001377470.1:c.485A>G, NM_001377459.1:c.776A>G, NM_001377458.1:c.776A>G, NM_001377468.1:c.776A>G, NM_001377465.1:c.776A>G, NM_001377466.1:c.776A>G, NM_001377467.1:c.776A>G, NM_001377460.1:c.776A>G, NM_001377461.1:c.776A>G, NM_001377463.1:c.776A>G, NM_001377462.1:c.776A>G, NM_001377464.1:c.776A>G, NM_001377469.1:c.674A>G, NP_055942.1:p.Asp209Gly, NP_001041675.1:p.Asp259Gly, NP_001265131.1:p.Asp138Gly, NP_001364399.1:p.Asp162Gly, NP_001364388.1:p.Asp259Gly, NP_001364387.1:p.Asp259Gly, NP_001364397.1:p.Asp259Gly, NP_001364394.1:p.Asp259Gly, NP_001364395.1:p.Asp259Gly, NP_001364396.1:p.Asp259Gly, NP_001364389.1:p.Asp259Gly, NP_001364390.1:p.Asp259Gly, NP_001364392.1:p.Asp259Gly, NP_001364391.1:p.Asp259Gly, NP_001364393.1:p.Asp259Gly, NP_001364398.1:p.Asp225Gly

                          13.

                          rs1458236736 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:108940140 (GRCh38)
                            1:109482762 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:108940139:A:G
                            Gene:
                            CLCC1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000001.11:g.108940140A>G, NC_000001.10:g.109482762A>G, NM_015127.5:c.649T>C, NM_015127.4:c.649T>C, NM_001048210.3:c.799T>C, NM_001048210.2:c.799T>C, NM_001278202.2:c.436T>C, NM_001278202.1:c.436T>C, NR_165299.1:n.1266T>C, NM_001377470.1:c.508T>C, NM_001377459.1:c.799T>C, NM_001377458.1:c.799T>C, NM_001377468.1:c.799T>C, NM_001377465.1:c.799T>C, NM_001377466.1:c.799T>C, NM_001377467.1:c.799T>C, NM_001377460.1:c.799T>C, NM_001377461.1:c.799T>C, NM_001377463.1:c.799T>C, NM_001377462.1:c.799T>C, NM_001377464.1:c.799T>C, NM_001377469.1:c.697T>C, NP_055942.1:p.Trp217Arg, NP_001041675.1:p.Trp267Arg, NP_001265131.1:p.Trp146Arg, NP_001364399.1:p.Trp170Arg, NP_001364388.1:p.Trp267Arg, NP_001364387.1:p.Trp267Arg, NP_001364397.1:p.Trp267Arg, NP_001364394.1:p.Trp267Arg, NP_001364395.1:p.Trp267Arg, NP_001364396.1:p.Trp267Arg, NP_001364389.1:p.Trp267Arg, NP_001364390.1:p.Trp267Arg, NP_001364392.1:p.Trp267Arg, NP_001364391.1:p.Trp267Arg, NP_001364393.1:p.Trp267Arg, NP_001364398.1:p.Trp233Arg

                            14.

                            rs1457769830 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GCTGCCTTGGT>- [Show Flanks]
                              Chromosome:
                              1:108934739 (GRCh38)
                              1:109477361 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:108934736:GTGCTGCCTTGGT:GT
                              Gene:
                              CLCC1 (Varview), GPSM2 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency
                              MAF:
                              -=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.108934739_108934749del, NC_000001.10:g.109477361_109477371del, NG_028108.2:g.64390_64400del, NM_015127.5:c.1429_1439del, NM_015127.4:c.1429_1439del, NM_001048210.3:c.1579_1589del, NM_001048210.2:c.1579_1589del, NM_001278202.2:c.1216_1226del, NM_001278202.1:c.1216_1226del, NR_165299.1:n.2189_2199del, NM_001377470.1:c.1288_1298del, NM_001377459.1:c.1579_1589del, NM_001377458.1:c.1579_1589del, NM_001377468.1:c.1579_1589del, NM_001377465.1:c.1579_1589del, NM_001377466.1:c.1579_1589del, NM_001377467.1:c.1579_1589del, NM_001377460.1:c.1579_1589del, NM_001377461.1:c.1579_1589del, NM_001377463.1:c.1579_1589del, NM_001377462.1:c.1579_1589del, NM_001377464.1:c.1579_1589del, NM_001377469.1:c.1477_1487del, NM_001278203.1:c.1024_1034del, NP_055942.1:p.Gln477fs, NP_001041675.1:p.Gln527fs, NP_001265131.1:p.Gln406fs, NP_001364399.1:p.Gln430fs, NP_001364388.1:p.Gln527fs, NP_001364387.1:p.Gln527fs, NP_001364397.1:p.Gln527fs, NP_001364394.1:p.Gln527fs, NP_001364395.1:p.Gln527fs, NP_001364396.1:p.Gln527fs, NP_001364389.1:p.Gln527fs, NP_001364390.1:p.Gln527fs, NP_001364392.1:p.Gln527fs, NP_001364391.1:p.Gln527fs, NP_001364393.1:p.Gln527fs, NP_001364398.1:p.Gln493fs, NP_001265132.1:p.Gln342fs

                              15.

                              rs1457028176 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C [Show Flanks]
                                Chromosome:
                                1:108937300 (GRCh38)
                                1:109479922 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:108937299:T:A,NC_000001.11:108937299:T:C
                                Gene:
                                CLCC1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000001.11:g.108937300T>A, NC_000001.11:g.108937300T>C, NC_000001.10:g.109479922T>A, NC_000001.10:g.109479922T>C, NM_015127.5:c.1010A>T, NM_015127.5:c.1010A>G, NM_015127.4:c.1010A>T, NM_015127.4:c.1010A>G, NM_001048210.3:c.1160A>T, NM_001048210.3:c.1160A>G, NM_001048210.2:c.1160A>T, NM_001048210.2:c.1160A>G, NM_001278202.2:c.797A>T, NM_001278202.2:c.797A>G, NM_001278202.1:c.797A>T, NM_001278202.1:c.797A>G, NR_165299.1:n.1770A>T, NR_165299.1:n.1770A>G, NM_001377470.1:c.869A>T, NM_001377470.1:c.869A>G, NM_001377459.1:c.1160A>T, NM_001377459.1:c.1160A>G, NM_001377458.1:c.1160A>T, NM_001377458.1:c.1160A>G, NM_001377468.1:c.1160A>T, NM_001377468.1:c.1160A>G, NM_001377465.1:c.1160A>T, NM_001377465.1:c.1160A>G, NM_001377466.1:c.1160A>T, NM_001377466.1:c.1160A>G, NM_001377467.1:c.1160A>T, NM_001377467.1:c.1160A>G, NM_001377460.1:c.1160A>T, NM_001377460.1:c.1160A>G, NM_001377461.1:c.1160A>T, NM_001377461.1:c.1160A>G, NM_001377463.1:c.1160A>T, NM_001377463.1:c.1160A>G, NM_001377462.1:c.1160A>T, NM_001377462.1:c.1160A>G, NM_001377464.1:c.1160A>T, NM_001377464.1:c.1160A>G, NM_001377469.1:c.1058A>T, NM_001377469.1:c.1058A>G, NM_001278203.1:c.605A>T, NM_001278203.1:c.605A>G, NP_055942.1:p.Tyr337Phe, NP_055942.1:p.Tyr337Cys, NP_001041675.1:p.Tyr387Phe, NP_001041675.1:p.Tyr387Cys, NP_001265131.1:p.Tyr266Phe, NP_001265131.1:p.Tyr266Cys, NP_001364399.1:p.Tyr290Phe, NP_001364399.1:p.Tyr290Cys, NP_001364388.1:p.Tyr387Phe, NP_001364388.1:p.Tyr387Cys, NP_001364387.1:p.Tyr387Phe, NP_001364387.1:p.Tyr387Cys, NP_001364397.1:p.Tyr387Phe, NP_001364397.1:p.Tyr387Cys, NP_001364394.1:p.Tyr387Phe, NP_001364394.1:p.Tyr387Cys, NP_001364395.1:p.Tyr387Phe, NP_001364395.1:p.Tyr387Cys, NP_001364396.1:p.Tyr387Phe, NP_001364396.1:p.Tyr387Cys, NP_001364389.1:p.Tyr387Phe, NP_001364389.1:p.Tyr387Cys, NP_001364390.1:p.Tyr387Phe, NP_001364390.1:p.Tyr387Cys, NP_001364392.1:p.Tyr387Phe, NP_001364392.1:p.Tyr387Cys, NP_001364391.1:p.Tyr387Phe, NP_001364391.1:p.Tyr387Cys, NP_001364393.1:p.Tyr387Phe, NP_001364393.1:p.Tyr387Cys, NP_001364398.1:p.Tyr353Phe, NP_001364398.1:p.Tyr353Cys, NP_001265132.1:p.Tyr202Phe, NP_001265132.1:p.Tyr202Cys

                                16.

                                rs1456673755 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  1:108940120 (GRCh38)
                                  1:109482742 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:108940119:G:C
                                  Gene:
                                  CLCC1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,non_coding_transcript_variant,synonymous_variant
                                  Clinical significance:
                                  likely-benign
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000028/1 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000019/5 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1455627253 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:108937193 (GRCh38)
                                    1:109479815 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:108937192:A:G
                                    Gene:
                                    CLCC1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1452276085 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      1:108934911 (GRCh38)
                                      1:109477533 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:108934910:T:G
                                      Gene:
                                      CLCC1 (Varview), GPSM2 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,500B_downstream_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.108934911T>G, NC_000001.10:g.109477533T>G, NG_028108.2:g.64562T>G, NM_015127.5:c.1265A>C, NM_015127.4:c.1265A>C, NM_001048210.3:c.1415A>C, NM_001048210.2:c.1415A>C, NM_001278202.2:c.1052A>C, NM_001278202.1:c.1052A>C, NR_165299.1:n.2025A>C, NM_001377470.1:c.1124A>C, NM_001377459.1:c.1415A>C, NM_001377458.1:c.1415A>C, NM_001377468.1:c.1415A>C, NM_001377465.1:c.1415A>C, NM_001377466.1:c.1415A>C, NM_001377467.1:c.1415A>C, NM_001377460.1:c.1415A>C, NM_001377461.1:c.1415A>C, NM_001377463.1:c.1415A>C, NM_001377462.1:c.1415A>C, NM_001377464.1:c.1415A>C, NM_001377469.1:c.1313A>C, NM_001278203.1:c.860A>C, NP_055942.1:p.Lys422Thr, NP_001041675.1:p.Lys472Thr, NP_001265131.1:p.Lys351Thr, NP_001364399.1:p.Lys375Thr, NP_001364388.1:p.Lys472Thr, NP_001364387.1:p.Lys472Thr, NP_001364397.1:p.Lys472Thr, NP_001364394.1:p.Lys472Thr, NP_001364395.1:p.Lys472Thr, NP_001364396.1:p.Lys472Thr, NP_001364389.1:p.Lys472Thr, NP_001364390.1:p.Lys472Thr, NP_001364392.1:p.Lys472Thr, NP_001364391.1:p.Lys472Thr, NP_001364393.1:p.Lys472Thr, NP_001364398.1:p.Lys438Thr, NP_001265132.1:p.Lys287Thr

                                      19.

                                      rs1450769275 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ATGAACTGATTTTCCAGCAC>- [Show Flanks]
                                        Chromosome:
                                        1:108937386 (GRCh38)
                                        1:109480008 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:108937379:CAGCACATGAACTGATTTTCCAGCAC:CAGCAC
                                        Gene:
                                        CLCC1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CAGCAC=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.108937386_108937405del, NC_000001.10:g.109480008_109480027del, NM_015127.5:c.911_930del, NM_015127.4:c.911_930del, NM_001048210.3:c.1061_1080del, NM_001048210.2:c.1061_1080del, NM_001278202.2:c.698_717del, NM_001278202.1:c.698_717del, NR_165299.1:n.1671_1690del, NM_001377470.1:c.770_789del, NM_001377459.1:c.1061_1080del, NM_001377458.1:c.1061_1080del, NM_001377468.1:c.1061_1080del, NM_001377465.1:c.1061_1080del, NM_001377466.1:c.1061_1080del, NM_001377467.1:c.1061_1080del, NM_001377460.1:c.1061_1080del, NM_001377461.1:c.1061_1080del, NM_001377463.1:c.1061_1080del, NM_001377462.1:c.1061_1080del, NM_001377464.1:c.1061_1080del, NM_001377469.1:c.959_978del, NM_001278203.1:c.506_525del, NP_055942.1:p.Gly304fs, NP_001041675.1:p.Gly354fs, NP_001265131.1:p.Gly233fs, NP_001364399.1:p.Gly257fs, NP_001364388.1:p.Gly354fs, NP_001364387.1:p.Gly354fs, NP_001364397.1:p.Gly354fs, NP_001364394.1:p.Gly354fs, NP_001364395.1:p.Gly354fs, NP_001364396.1:p.Gly354fs, NP_001364389.1:p.Gly354fs, NP_001364390.1:p.Gly354fs, NP_001364392.1:p.Gly354fs, NP_001364391.1:p.Gly354fs, NP_001364393.1:p.Gly354fs, NP_001364398.1:p.Gly320fs, NP_001265132.1:p.Gly169fs

                                        20.

                                        rs1449429107 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:108943566 (GRCh38)
                                          1:109486188 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:108943565:C:T
                                          Gene:
                                          CLCC1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,intron_variant,stop_gained
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.108943566C>T, NC_000001.10:g.109486188C>T, NM_015127.5:c.461G>A, NM_015127.4:c.461G>A, NM_001048210.3:c.611G>A, NM_001048210.2:c.611G>A, NR_165299.1:n.1078G>A, NM_001377470.1:c.320G>A, NM_001377459.1:c.611G>A, NM_001377458.1:c.611G>A, NM_001377468.1:c.611G>A, NM_001377465.1:c.611G>A, NM_001377466.1:c.611G>A, NM_001377467.1:c.611G>A, NM_001377460.1:c.611G>A, NM_001377461.1:c.611G>A, NM_001377463.1:c.611G>A, NM_001377462.1:c.611G>A, NM_001377464.1:c.611G>A, NM_001377469.1:c.509G>A, NP_055942.1:p.Trp154Ter, NP_001041675.1:p.Trp204Ter, NP_001364399.1:p.Trp107Ter, NP_001364388.1:p.Trp204Ter, NP_001364387.1:p.Trp204Ter, NP_001364397.1:p.Trp204Ter, NP_001364394.1:p.Trp204Ter, NP_001364395.1:p.Trp204Ter, NP_001364396.1:p.Trp204Ter, NP_001364389.1:p.Trp204Ter, NP_001364390.1:p.Trp204Ter, NP_001364392.1:p.Trp204Ter, NP_001364391.1:p.Trp204Ter, NP_001364393.1:p.Trp204Ter, NP_001364398.1:p.Trp170Ter

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