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Items: 1 to 20 of 1000

1.

rs1491532650 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    19:912100 (GRCh38)
    19:912100 (GRCh37)
    Canonical SPDI:
    NC_000019.10:912098:GTG:G
    Gene:
    R3HDM4 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.00337/40 (ALFA)
    HGVS:
    2.

    rs1491526193 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      19:898219 (GRCh38)
      19:898219 (GRCh37)
      Canonical SPDI:
      NC_000019.10:898218:TA:
      Gene:
      R3HDM4 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491418931 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        19:898404 (GRCh38)
        19:898404 (GRCh37)
        Canonical SPDI:
        NC_000019.10:898403:CA:
        Gene:
        R3HDM4 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00101/12 (ALFA)
        HGVS:
        4.

        rs1491390432 has merged into rs56259205 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          19:914593 (GRCh38)
          19:914593 (GRCh37)
          Canonical SPDI:
          NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:914582:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          R3HDM4 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAA=0./0 (ALFA)
          -=0.175/7 (GENOME_DK)
          HGVS:
          NC_000019.10:g.914593_914608del, NC_000019.10:g.914594_914608del, NC_000019.10:g.914595_914608del, NC_000019.10:g.914596_914608del, NC_000019.10:g.914597_914608del, NC_000019.10:g.914598_914608del, NC_000019.10:g.914599_914608del, NC_000019.10:g.914600_914608del, NC_000019.10:g.914601_914608del, NC_000019.10:g.914602_914608del, NC_000019.10:g.914603_914608del, NC_000019.10:g.914604_914608del, NC_000019.10:g.914605_914608del, NC_000019.10:g.914606_914608del, NC_000019.10:g.914607_914608del, NC_000019.10:g.914608del, NC_000019.10:g.914608dup, NC_000019.10:g.914607_914608dup, NC_000019.10:g.914606_914608dup, NC_000019.10:g.914605_914608dup, NC_000019.10:g.914604_914608dup, NC_000019.10:g.914603_914608dup, NC_000019.9:g.914593_914608del, NC_000019.9:g.914594_914608del, NC_000019.9:g.914595_914608del, NC_000019.9:g.914596_914608del, NC_000019.9:g.914597_914608del, NC_000019.9:g.914598_914608del, NC_000019.9:g.914599_914608del, NC_000019.9:g.914600_914608del, NC_000019.9:g.914601_914608del, NC_000019.9:g.914602_914608del, NC_000019.9:g.914603_914608del, NC_000019.9:g.914604_914608del, NC_000019.9:g.914605_914608del, NC_000019.9:g.914606_914608del, NC_000019.9:g.914607_914608del, NC_000019.9:g.914608del, NC_000019.9:g.914608dup, NC_000019.9:g.914607_914608dup, NC_000019.9:g.914606_914608dup, NC_000019.9:g.914605_914608dup, NC_000019.9:g.914604_914608dup, NC_000019.9:g.914603_914608dup, NG_008277.1:g.2252_2267del, NG_008277.1:g.2253_2267del, NG_008277.1:g.2254_2267del, NG_008277.1:g.2255_2267del, NG_008277.1:g.2256_2267del, NG_008277.1:g.2257_2267del, NG_008277.1:g.2258_2267del, NG_008277.1:g.2259_2267del, NG_008277.1:g.2260_2267del, NG_008277.1:g.2261_2267del, NG_008277.1:g.2262_2267del, NG_008277.1:g.2263_2267del, NG_008277.1:g.2264_2267del, NG_008277.1:g.2265_2267del, NG_008277.1:g.2266_2267del, NG_008277.1:g.2267del, NG_008277.1:g.2267dup, NG_008277.1:g.2266_2267dup, NG_008277.1:g.2265_2267dup, NG_008277.1:g.2264_2267dup, NG_008277.1:g.2263_2267dup, NG_008277.1:g.2262_2267dup
          5.

          rs1491371915 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            19:914582 (GRCh38)
            19:914582 (GRCh37)
            Canonical SPDI:
            NC_000019.10:914581:CA:
            Gene:
            R3HDM4 (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.00084/10 (ALFA)
            -=0.00087/22 (TOMMO)
            HGVS:
            6.

            rs1491284783 has merged into rs67161788 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              19:898411 (GRCh38)
              19:898411 (GRCh37)
              Canonical SPDI:
              NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:898404:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
              Gene:
              R3HDM4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAAA=0./0 (ALFA)
              A=0.3494/1750 (1000Genomes)
              HGVS:
              7.

              rs1491240742 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                19:912099 (GRCh38)
                19:912100 (GRCh37)
                Canonical SPDI:
                NC_000019.10:912099:T:TT
                Gene:
                R3HDM4 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                TT=0./0 (ALFA)
                HGVS:
                8.

                rs1491088575 has merged into rs1555720572 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TATA>-,TA,TATATA,TATATATA [Show Flanks]
                  Chromosome:
                  19:898245 (GRCh38)
                  19:898245 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:898229:ATATATATATATATATATA:ATATATATATATATA,NC_000019.10:898229:ATATATATATATATATATA:ATATATATATATATATA,NC_000019.10:898229:ATATATATATATATATATA:ATATATATATATATATATATA,NC_000019.10:898229:ATATATATATATATATATA:ATATATATATATATATATATATA
                  Gene:
                  R3HDM4 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  ATATATATATATATATA=0.00111/18 (ALFA)
                  HGVS:
                  9.

                  rs1491004470 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->G [Show Flanks]
                    Chromosome:
                    19:903236 (GRCh38)
                    19:903237 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:903236:G:GG
                    Gene:
                    R3HDM4 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GG=0./0 (ALFA)
                    G=0.000011/3 (TOPMED)
                    HGVS:
                    10.

                    rs1490870447 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      19:912863 (GRCh38)
                      19:912863 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:912862:C:G
                      Gene:
                      R3HDM4 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000015/4 (TOPMED)
                      G=0.000021/3 (GnomAD)
                      HGVS:
                      11.

                      rs1490675008 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        19:912658 (GRCh38)
                        19:912658 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:912657:A:G,NC_000019.10:912657:A:T
                        Gene:
                        R3HDM4 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0./0 (SGDP_PRJ)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        12.

                        rs1490464221 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:910851 (GRCh38)
                          19:910851 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:910850:G:A
                          Gene:
                          R3HDM4 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000015/4 (TOPMED)
                          A=0.000029/4 (GnomAD)
                          HGVS:
                          13.

                          rs1490449437 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            19:912157 (GRCh38)
                            19:912157 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:912156:C:G
                            Gene:
                            R3HDM4 (Varview)
                            Functional Consequence:
                            intron_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.01088/129 (ALFA)
                            G=0.00034/3 (GnomAD)
                            C=0.4/4 (SGDP_PRJ)
                            HGVS:
                            14.

                            rs1490034064 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->GCCCCCCTCCAG [Show Flanks]
                              Chromosome:
                              19:903295 (GRCh38)
                              19:903296 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:903295:GGCCCCCCTCCAG:GGCCCCCCTCCAGGCCCCCCTCCAG
                              Gene:
                              R3HDM4 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              GGCCCCCCTCCAGGCCCCCCTCCAG=0.000142/2 (ALFA)
                              GGCCCCCCTCCA=0.000008/2 (TOPMED)
                              HGVS:
                              15.

                              rs1489974306 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:910022 (GRCh38)
                                19:910022 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:910021:C:T
                                Gene:
                                R3HDM4 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000011/3 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                T=0.001592/27 (TOMMO)
                                T=0.002738/8 (KOREAN)
                                T=0.003821/7 (Korea1K)
                                HGVS:
                                16.

                                rs1489871082 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  19:903512 (GRCh38)
                                  19:903512 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:903511:G:T
                                  Gene:
                                  R3HDM4 (Varview)
                                  Functional Consequence:
                                  upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489828335 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    19:903048 (GRCh38)
                                    19:903048 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:903047:G:A
                                    Gene:
                                    R3HDM4 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000011/3 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1489617349 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      19:913325 (GRCh38)
                                      19:913325 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:913324:G:C
                                      Gene:
                                      R3HDM4 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1489562368 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:903562 (GRCh38)
                                        19:903562 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:903561:G:A
                                        Gene:
                                        R3HDM4 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489490498 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          19:903058 (GRCh38)
                                          19:903058 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:903057:A:G
                                          Gene:
                                          R3HDM4 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          HGVS:

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