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Items: 1 to 20 of 7080

1.

rs1491549300 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CG>-,CGCG [Show Flanks]
    Chromosome:
    11:94381584 (GRCh38)
    11:94114750 (GRCh37)
    Canonical SPDI:
    NC_000011.10:94381578:GCGCGCG:GCGCG,NC_000011.10:94381578:GCGCGCG:GCGCGCGCG
    Gene:
    GPR83 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GCGCGCGCG=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    GC=0.000035/1 (TOMMO)
    HGVS:
    2.

    rs1491441832 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      11:94400547 (GRCh38)
      11:94133714 (GRCh37)
      Canonical SPDI:
      NC_000011.10:94400547::C
      Gene:
      GPR83 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.00017/2 (ALFA)
      C=0.00119/21 (GnomAD)
      HGVS:
      3.

      rs1491311179 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        11:94379370 (GRCh38)
        11:94112536 (GRCh37)
        Canonical SPDI:
        NC_000011.10:94379369:CA:
        Gene:
        GPR83 (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:
        4.

        rs1491178886 has merged into rs34496676 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          11:94400555 (GRCh38)
          11:94133721 (GRCh37)
          Canonical SPDI:
          NC_000011.10:94400546:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000011.10:94400546:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:94400546:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:94400546:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:94400546:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:94400546:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:94400546:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:94400546:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:94400546:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:94400546:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:94400546:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          GPR83 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAA=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1491177892 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            11:94382343 (GRCh38)
            11:94115509 (GRCh37)
            Canonical SPDI:
            NC_000011.10:94382342:CA:
            Gene:
            GPR83 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0./0 (ALFA)
            -=0.00159/44 (TOMMO)
            HGVS:
            6.

            rs1491134920 has merged into rs200200146 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              11:94379372 (GRCh38)
              11:94112538 (GRCh37)
              Canonical SPDI:
              NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:A,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94379370:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              GPR83 (Varview)
              Functional Consequence:
              3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              HGVS:
              NC_000011.10:g.94379372_94379387del, NC_000011.10:g.94379375_94379387del, NC_000011.10:g.94379376_94379387del, NC_000011.10:g.94379377_94379387del, NC_000011.10:g.94379380_94379387del, NC_000011.10:g.94379381_94379387del, NC_000011.10:g.94379382_94379387del, NC_000011.10:g.94379384_94379387del, NC_000011.10:g.94379385_94379387del, NC_000011.10:g.94379386_94379387del, NC_000011.10:g.94379387del, NC_000011.10:g.94379387dup, NC_000011.10:g.94379386_94379387dup, NC_000011.10:g.94379385_94379387dup, NC_000011.10:g.94379384_94379387dup, NC_000011.10:g.94379383_94379387dup, NC_000011.10:g.94379382_94379387dup, NC_000011.10:g.94379377_94379387dup, NC_000011.10:g.94379376_94379387dup, NC_000011.10:g.94379387_94379388insAAAAAAAAAAAAAAAAAA, NC_000011.9:g.94112538_94112553del, NC_000011.9:g.94112541_94112553del, NC_000011.9:g.94112542_94112553del, NC_000011.9:g.94112543_94112553del, NC_000011.9:g.94112546_94112553del, NC_000011.9:g.94112547_94112553del, NC_000011.9:g.94112548_94112553del, NC_000011.9:g.94112550_94112553del, NC_000011.9:g.94112551_94112553del, NC_000011.9:g.94112552_94112553del, NC_000011.9:g.94112553del, NC_000011.9:g.94112553dup, NC_000011.9:g.94112552_94112553dup, NC_000011.9:g.94112551_94112553dup, NC_000011.9:g.94112550_94112553dup, NC_000011.9:g.94112549_94112553dup, NC_000011.9:g.94112548_94112553dup, NC_000011.9:g.94112543_94112553dup, NC_000011.9:g.94112542_94112553dup, NC_000011.9:g.94112553_94112554insAAAAAAAAAAAAAAAAAA, NM_016540.4:c.*763_*778del, NM_016540.4:c.*766_*778del, NM_016540.4:c.*767_*778del, NM_016540.4:c.*768_*778del, NM_016540.4:c.*771_*778del, NM_016540.4:c.*772_*778del, NM_016540.4:c.*773_*778del, NM_016540.4:c.*775_*778del, NM_016540.4:c.*776_*778del, NM_016540.4:c.*777_*778del, NM_016540.4:c.*778del, NM_016540.4:c.*778dup, NM_016540.4:c.*777_*778dup, NM_016540.4:c.*776_*778dup, NM_016540.4:c.*775_*778dup, NM_016540.4:c.*774_*778dup, NM_016540.4:c.*773_*778dup, NM_016540.4:c.*768_*778dup, NM_016540.4:c.*767_*778dup, NM_016540.4:c.*778_*779insTTTTTTTTTTTTTTTTTT, NM_016540.3:c.*763_*778del, NM_016540.3:c.*766_*778del, NM_016540.3:c.*767_*778del, NM_016540.3:c.*768_*778del, NM_016540.3:c.*771_*778del, NM_016540.3:c.*772_*778del, NM_016540.3:c.*773_*778del, NM_016540.3:c.*775_*778del, NM_016540.3:c.*776_*778del, NM_016540.3:c.*777_*778del, NM_016540.3:c.*778del, NM_016540.3:c.*778dup, NM_016540.3:c.*777_*778dup, NM_016540.3:c.*776_*778dup, NM_016540.3:c.*775_*778dup, NM_016540.3:c.*774_*778dup, NM_016540.3:c.*773_*778dup, NM_016540.3:c.*768_*778dup, NM_016540.3:c.*767_*778dup, NM_016540.3:c.*778_*779insTTTTTTTTTTTTTTTTTT, NM_001330345.2:c.*763_*778del, NM_001330345.2:c.*766_*778del, NM_001330345.2:c.*767_*778del, NM_001330345.2:c.*768_*778del, NM_001330345.2:c.*771_*778del, NM_001330345.2:c.*772_*778del, NM_001330345.2:c.*773_*778del, NM_001330345.2:c.*775_*778del, NM_001330345.2:c.*776_*778del, NM_001330345.2:c.*777_*778del, NM_001330345.2:c.*778del, NM_001330345.2:c.*778dup, NM_001330345.2:c.*777_*778dup, NM_001330345.2:c.*776_*778dup, NM_001330345.2:c.*775_*778dup, NM_001330345.2:c.*774_*778dup, NM_001330345.2:c.*773_*778dup, NM_001330345.2:c.*768_*778dup, NM_001330345.2:c.*767_*778dup, NM_001330345.2:c.*778_*779insTTTTTTTTTTTTTTTTTT, NM_001330345.1:c.*763_*778del, NM_001330345.1:c.*766_*778del, NM_001330345.1:c.*767_*778del, NM_001330345.1:c.*768_*778del, NM_001330345.1:c.*771_*778del, NM_001330345.1:c.*772_*778del, NM_001330345.1:c.*773_*778del, NM_001330345.1:c.*775_*778del, NM_001330345.1:c.*776_*778del, NM_001330345.1:c.*777_*778del, NM_001330345.1:c.*778del, NM_001330345.1:c.*778dup, NM_001330345.1:c.*777_*778dup, NM_001330345.1:c.*776_*778dup, NM_001330345.1:c.*775_*778dup, NM_001330345.1:c.*774_*778dup, NM_001330345.1:c.*773_*778dup, NM_001330345.1:c.*768_*778dup, NM_001330345.1:c.*767_*778dup, NM_001330345.1:c.*778_*779insTTTTTTTTTTTTTTTTTT
              7.

              rs1490695179 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                11:94385946 (GRCh38)
                11:94119112 (GRCh37)
                Canonical SPDI:
                NC_000011.10:94385945:G:A,NC_000011.10:94385945:G:C
                Gene:
                GPR83 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                HGVS:
                8.

                rs1490549345 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  11:94382755 (GRCh38)
                  11:94115921 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:94382754:T:C
                  Gene:
                  GPR83 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490537508 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    11:94385188 (GRCh38)
                    11:94118354 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:94385187:C:A
                    Gene:
                    GPR83 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000214/3 (ALFA)
                    A=0.000036/5 (GnomAD)
                    A=0.000042/11 (TOPMED)
                    HGVS:
                    10.

                    rs1490533068 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      11:94381921 (GRCh38)
                      11:94115087 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:94381920:C:A
                      Gene:
                      GPR83 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490491828 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        11:94401430 (GRCh38)
                        11:94134596 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:94401429:G:A,NC_000011.10:94401429:G:T
                        Gene:
                        GPR83 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.00004/1 (TOMMO)
                        HGVS:
                        12.

                        rs1490459098 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->A [Show Flanks]
                          Chromosome:
                          11:94399096 (GRCh38)
                          11:94132263 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:94399096:AAAAAA:AAAAAAA
                          Gene:
                          GPR83 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          AAAAAAA=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1490170567 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            11:94399712 (GRCh38)
                            11:94132878 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:94399711:A:C
                            Gene:
                            GPR83 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1489966143 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G,T [Show Flanks]
                              Chromosome:
                              11:94386791 (GRCh38)
                              11:94119957 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:94386790:A:G,NC_000011.10:94386790:A:T
                              Gene:
                              GPR83 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1489865258 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->T [Show Flanks]
                                Chromosome:
                                11:94400291 (GRCh38)
                                11:94133458 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:94400291:TTT:TTTT
                                Gene:
                                GPR83 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTT=0.000071/1 (ALFA)
                                T=0.000014/2 (GnomAD)
                                T=0.000023/6 (TOPMED)
                                HGVS:
                                16.

                                rs1489763945 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  11:94400147 (GRCh38)
                                  11:94133313 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:94400146:A:G
                                  Gene:
                                  GPR83 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489653091 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    11:94391498 (GRCh38)
                                    11:94124664 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:94391497:C:A
                                    Gene:
                                    GPR83 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489651397 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      11:94385799 (GRCh38)
                                      11:94118965 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:94385798:C:T
                                      Gene:
                                      GPR83 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489455966 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        11:94396024 (GRCh38)
                                        11:94129190 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:94396023:A:G
                                        Gene:
                                        GPR83 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.0002/1 (ALFA)
                                        G=0.0002/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1489418056 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:94392106 (GRCh38)
                                          11:94125272 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:94392105:A:G
                                          Gene:
                                          GPR83 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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