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Items: 1 to 20 of 231

1.

rs1488636523 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    11:62678063 (GRCh38)
    11:62445535 (GRCh37)
    Canonical SPDI:
    NC_000011.10:62678062:C:T
    Gene:
    UBXN1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    2.

    rs1485788967 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:62678712 (GRCh38)
      11:62446184 (GRCh37)
      Canonical SPDI:
      NC_000011.10:62678711:C:T
      Gene:
      UBXN1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1484300193 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        11:62677621 (GRCh38)
        11:62445093 (GRCh37)
        Canonical SPDI:
        NC_000011.10:62677620:A:T
        Gene:
        UBXN1 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        4.

        rs1482313113 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:62676829 (GRCh38)
          11:62444301 (GRCh37)
          Canonical SPDI:
          NC_000011.10:62676828:C:T
          Gene:
          UBXN1 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (GnomAD_exomes)
          T=0.000106/2 (TOMMO)
          HGVS:
          5.

          rs1482111623 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            11:62678698 (GRCh38)
            11:62446170 (GRCh37)
            Canonical SPDI:
            NC_000011.10:62678697:C:G
            Gene:
            UBXN1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1479687441 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:62678081 (GRCh38)
              11:62445553 (GRCh37)
              Canonical SPDI:
              NC_000011.10:62678080:C:T
              Gene:
              UBXN1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1476010465 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                11:62677575 (GRCh38)
                11:62445047 (GRCh37)
                Canonical SPDI:
                NC_000011.10:62677574:G:A
                Gene:
                UBXN1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000007/1 (GnomAD)
                HGVS:
                8.

                rs1475687649 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  11:62676592 (GRCh38)
                  11:62444064 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:62676591:A:C
                  Gene:
                  UBXN1 (Varview)
                  Functional Consequence:
                  stop_lost,3_prime_UTR_variant,terminator_codon_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1471766423 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    11:62677626 (GRCh38)
                    11:62445098 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:62677625:G:C
                    Gene:
                    UBXN1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000048/1 (ALFA)
                    C=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    10.

                    rs1471351496 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      11:62676860 (GRCh38)
                      11:62444332 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:62676859:C:G
                      Gene:
                      UBXN1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      12.

                      rs1456556947 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:62678873 (GRCh38)
                        11:62446345 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:62678872:C:T
                        Gene:
                        UBXN1 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        13.

                        rs1455781266 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:62677544 (GRCh38)
                          11:62445016 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:62677543:G:A
                          Gene:
                          UBXN1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          14.

                          rs1452060917 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            11:62678098 (GRCh38)
                            11:62445570 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:62678097:T:C
                            Gene:
                            UBXN1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            15.
                            16.

                            rs1441307623 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:62677603 (GRCh38)
                              11:62445075 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:62677602:G:A
                              Gene:
                              UBXN1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              17.

                              rs1440888715 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:62678905 (GRCh38)
                                11:62446377 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:62678904:G:A
                                Gene:
                                UBXN1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000005/1 (GnomAD_exomes)
                                HGVS:
                                18.

                                rs1437599621 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:62676961 (GRCh38)
                                  11:62444433 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:62676960:G:A
                                  Gene:
                                  UBXN1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  19.

                                  rs1435361821 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:62677978 (GRCh38)
                                    11:62445450 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:62677977:C:T
                                    Gene:
                                    UBXN1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000031/1 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:
                                    20.

                                    rs1433741784 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:62677806 (GRCh38)
                                      11:62445278 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:62677805:C:T
                                      Gene:
                                      UBXN1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:

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