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Items: 1 to 20 of 1000

1.

rs1491310365 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    17:74451710 (GRCh38)
    17:72447849 (GRCh37)
    Canonical SPDI:
    NC_000017.11:74451709:TA:
    Gene:
    GPRC5C (Varview)
    Functional Consequence:
    downstream_transcript_variant,500B_downstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00012/2 (ALFA)
    HGVS:
    2.

    rs1491223308 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GT>- [Show Flanks]
      Chromosome:
      17:74451692 (GRCh38)
      17:72447831 (GRCh37)
      Canonical SPDI:
      NC_000017.11:74451691:GT:
      Gene:
      GPRC5C (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.00002/1 (GnomAD)
      HGVS:
      3.

      rs1491194195 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->GC [Show Flanks]
        Chromosome:
        17:74445984 (GRCh38)
        17:72442124 (GRCh37)
        Canonical SPDI:
        NC_000017.11:74445984:C:CGC
        Gene:
        GPRC5C (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        CGC=0./0 (ALFA)
        HGVS:
        4.

        rs1490999117 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          C>- [Show Flanks]
          Chromosome:
          17:74432799 (GRCh38)
          17:72428938 (GRCh37)
          Canonical SPDI:
          NC_000017.11:74432798:CC:C
          Gene:
          GPRC5C (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by cluster
          MAF:
          -=0.00032/5 (TOMMO)
          HGVS:
          5.

          rs1490968405 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            17:74438221 (GRCh38)
            17:72434360 (GRCh37)
            Canonical SPDI:
            NC_000017.11:74438220:A:C
            Gene:
            GPRC5C (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.00001/1 (GnomAD)
            HGVS:
            6.

            rs1490933291 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TAGGGCTAAGACA>- [Show Flanks]
              Chromosome:
              17:74445715 (GRCh38)
              17:72441854 (GRCh37)
              Canonical SPDI:
              NC_000017.11:74445712:CATAGGGCTAAGACA:CA
              Gene:
              GPRC5C (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CA=0./0 (ALFA)
              -=0.000019/5 (TOPMED)
              -=0.000029/4 (GnomAD)
              HGVS:
              7.

              rs1490842529 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                17:74431931 (GRCh38)
                17:72428070 (GRCh37)
                Canonical SPDI:
                NC_000017.11:74431930:C:T
                Gene:
                GPRC5C (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000011/3 (TOPMED)
                T=0.000029/4 (GnomAD)
                HGVS:
                8.

                rs1490734643 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  17:74438307 (GRCh38)
                  17:72434446 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:74438306:T:C
                  Gene:
                  GPRC5C (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)
                  C=0.000546/1 (Korea1K)
                  HGVS:
                  9.

                  rs1490443427 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    17:74445275 (GRCh38)
                    17:72441414 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:74445274:A:C
                    Gene:
                    GPRC5C (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000019/5 (TOPMED)
                    C=0.000029/4 (GnomAD)
                    HGVS:
                    10.

                    rs1490430213 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      17:74430697 (GRCh38)
                      17:72426836 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:74430696:T:A
                      Gene:
                      GPRC5C (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490353694 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:74431506 (GRCh38)
                        17:72427645 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:74431505:G:A
                        Gene:
                        GPRC5C (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        13.

                        rs1490257769 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:74450839 (GRCh38)
                          17:72446978 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:74450838:T:C
                          Gene:
                          GPRC5C (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          14.

                          rs1490230198 has merged into rs71157066 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
                            Chromosome:
                            17:74438217 (GRCh38)
                            17:72434356 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
                            Gene:
                            GPRC5C (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            ATATATATAT=0./0 (ALFA)
                            HGVS:
                            NC_000017.11:g.74438207AT[5], NC_000017.11:g.74438207AT[6], NC_000017.11:g.74438207AT[7], NC_000017.11:g.74438207AT[8], NC_000017.11:g.74438207AT[9], NC_000017.11:g.74438207AT[10], NC_000017.11:g.74438207AT[11], NC_000017.11:g.74438207AT[12], NC_000017.11:g.74438207AT[13], NC_000017.11:g.74438207AT[14], NC_000017.11:g.74438207AT[15], NC_000017.11:g.74438207AT[16], NC_000017.11:g.74438207AT[17], NC_000017.11:g.74438207AT[18], NC_000017.11:g.74438207AT[19], NC_000017.11:g.74438207AT[20], NC_000017.11:g.74438207AT[21], NC_000017.11:g.74438207AT[22], NC_000017.11:g.74438207AT[24], NC_000017.11:g.74438207AT[25], NC_000017.11:g.74438207AT[26], NC_000017.11:g.74438207AT[27], NC_000017.11:g.74438207AT[28], NC_000017.11:g.74438207AT[29], NC_000017.11:g.74438207AT[30], NC_000017.11:g.74438207AT[31], NC_000017.11:g.74438207AT[32], NC_000017.10:g.72434346AT[5], NC_000017.10:g.72434346AT[6], NC_000017.10:g.72434346AT[7], NC_000017.10:g.72434346AT[8], NC_000017.10:g.72434346AT[9], NC_000017.10:g.72434346AT[10], NC_000017.10:g.72434346AT[11], NC_000017.10:g.72434346AT[12], NC_000017.10:g.72434346AT[13], NC_000017.10:g.72434346AT[14], NC_000017.10:g.72434346AT[15], NC_000017.10:g.72434346AT[16], NC_000017.10:g.72434346AT[17], NC_000017.10:g.72434346AT[18], NC_000017.10:g.72434346AT[19], NC_000017.10:g.72434346AT[20], NC_000017.10:g.72434346AT[21], NC_000017.10:g.72434346AT[22], NC_000017.10:g.72434346AT[24], NC_000017.10:g.72434346AT[25], NC_000017.10:g.72434346AT[26], NC_000017.10:g.72434346AT[27], NC_000017.10:g.72434346AT[28], NC_000017.10:g.72434346AT[29], NC_000017.10:g.72434346AT[30], NC_000017.10:g.72434346AT[31], NC_000017.10:g.72434346AT[32], NW_025791806.1:g.14655AT[5], NW_025791806.1:g.14655AT[6], NW_025791806.1:g.14655AT[7], NW_025791806.1:g.14655AT[8], NW_025791806.1:g.14655AT[9], NW_025791806.1:g.14655AT[10], NW_025791806.1:g.14655AT[11], NW_025791806.1:g.14655AT[12], NW_025791806.1:g.14655AT[13], NW_025791806.1:g.14655AT[14], NW_025791806.1:g.14655AT[15], NW_025791806.1:g.14655AT[16], NW_025791806.1:g.14655AT[17], NW_025791806.1:g.14655AT[18], NW_025791806.1:g.14655AT[19], NW_025791806.1:g.14655AT[20], NW_025791806.1:g.14655AT[21], NW_025791806.1:g.14655AT[22], NW_025791806.1:g.14655AT[24], NW_025791806.1:g.14655AT[25], NW_025791806.1:g.14655AT[26], NW_025791806.1:g.14655AT[27], NW_025791806.1:g.14655AT[28], NW_025791806.1:g.14655AT[29], NW_025791806.1:g.14655AT[30], NW_025791806.1:g.14655AT[31], NW_025791806.1:g.14655AT[32]
                            15.

                            rs1490186751 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              17:74451714 (GRCh38)
                              17:72447853 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:74451713:T:A
                              Gene:
                              GPRC5C (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              HGVS:
                              16.

                              rs1490174031 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                17:74437544 (GRCh38)
                                17:72433683 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:74437543:T:C
                                Gene:
                                GPRC5C (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                17.

                                rs1490149925 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  17:74438782 (GRCh38)
                                  17:72434921 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:74438781:T:C
                                  Gene:
                                  GPRC5C (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:
                                  18.

                                  rs1490019764 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    17:74444939 (GRCh38)
                                    17:72441078 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:74444938:C:G
                                    Gene:
                                    GPRC5C (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1489994906 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      17:74434109 (GRCh38)
                                      17:72430248 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:74434108:G:C
                                      Gene:
                                      GPRC5C (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      HGVS:
                                      20.

                                      rs1489922073 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        17:74430203 (GRCh38)
                                        17:72426342 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:74430202:T:C
                                        Gene:
                                        GPRC5C (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:

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