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Items: 1 to 20 of 1000

1.

rs1491534101 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    9:122897024 (GRCh38)
    9:125659303 (GRCh37)
    Canonical SPDI:
    NC_000009.12:122897023:TA:
    Gene:
    RC3H2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0.00059/7 (ALFA)
    HGVS:

    2.

    rs1491522431 has merged into rs10571749 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      9:122891025 (GRCh38)
      9:125653304 (GRCh37)
      Canonical SPDI:
      NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:122891012:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      RC3H2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTTTT=0./0 (ALFA)
      -=0.0213/82 (ALSPAC)
      HGVS:
      NC_000009.12:g.122891025_122891036del, NC_000009.12:g.122891026_122891036del, NC_000009.12:g.122891028_122891036del, NC_000009.12:g.122891029_122891036del, NC_000009.12:g.122891030_122891036del, NC_000009.12:g.122891031_122891036del, NC_000009.12:g.122891032_122891036del, NC_000009.12:g.122891033_122891036del, NC_000009.12:g.122891034_122891036del, NC_000009.12:g.122891035_122891036del, NC_000009.12:g.122891036del, NC_000009.12:g.122891036dup, NC_000009.12:g.122891035_122891036dup, NC_000009.12:g.122891034_122891036dup, NC_000009.12:g.122891016_122891036dup, NC_000009.12:g.122891036_122891037insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.122891036_122891037insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.122891036_122891037insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.122891036_122891037insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.125653304_125653315del, NC_000009.11:g.125653305_125653315del, NC_000009.11:g.125653307_125653315del, NC_000009.11:g.125653308_125653315del, NC_000009.11:g.125653309_125653315del, NC_000009.11:g.125653310_125653315del, NC_000009.11:g.125653311_125653315del, NC_000009.11:g.125653312_125653315del, NC_000009.11:g.125653313_125653315del, NC_000009.11:g.125653314_125653315del, NC_000009.11:g.125653315del, NC_000009.11:g.125653315dup, NC_000009.11:g.125653314_125653315dup, NC_000009.11:g.125653313_125653315dup, NC_000009.11:g.125653295_125653315dup, NC_000009.11:g.125653315_125653316insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.125653315_125653316insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.125653315_125653316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.125653315_125653316insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

      3.

      rs1491519597 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        9:122870412 (GRCh38)
        9:125632692 (GRCh37)
        Canonical SPDI:
        NC_000009.12:122870412:C:CC
        Gene:
        RC3H2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        CC=0./0 (ALFA)
        HGVS:

        4.

        rs1491499539 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TA>- [Show Flanks]
          Chromosome:
          9:122880494 (GRCh38)
          9:125642773 (GRCh37)
          Canonical SPDI:
          NC_000009.12:122880492:ATA:A
          Gene:
          RC3H2 (Varview), SNORD90 (Varview)
          Functional Consequence:
          upstream_transcript_variant,intron_variant,2KB_upstream_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          -=0.000011/3 (TOPMED)
          HGVS:

          5.

          rs1491481213 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            TC>- [Show Flanks]
            Chromosome:
            9:122899118 (GRCh38)
            9:125661397 (GRCh37)
            Canonical SPDI:
            NC_000009.12:122899117:TC:
            Gene:
            RC3H2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.01503/245 (ALFA)
            -=0.001/17 (TOMMO)
            HGVS:

            6.

            rs1491366530 has merged into rs139505008 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              9:122897033 (GRCh38)
              9:125659312 (GRCh37)
              Canonical SPDI:
              NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122897024:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              RC3H2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAA=0./0 (ALFA)
              -=0.000019/5 (TOPMED)
              HGVS:
              NC_000009.12:g.122897033_122897050del, NC_000009.12:g.122897037_122897050del, NC_000009.12:g.122897038_122897050del, NC_000009.12:g.122897040_122897050del, NC_000009.12:g.122897041_122897050del, NC_000009.12:g.122897042_122897050del, NC_000009.12:g.122897043_122897050del, NC_000009.12:g.122897045_122897050del, NC_000009.12:g.122897046_122897050del, NC_000009.12:g.122897047_122897050del, NC_000009.12:g.122897048_122897050del, NC_000009.12:g.122897049_122897050del, NC_000009.12:g.122897050del, NC_000009.12:g.122897050dup, NC_000009.12:g.122897049_122897050dup, NC_000009.12:g.122897048_122897050dup, NC_000009.12:g.122897039_122897050dup, NC_000009.12:g.122897034_122897050dup, NC_000009.11:g.125659312_125659329del, NC_000009.11:g.125659316_125659329del, NC_000009.11:g.125659317_125659329del, NC_000009.11:g.125659319_125659329del, NC_000009.11:g.125659320_125659329del, NC_000009.11:g.125659321_125659329del, NC_000009.11:g.125659322_125659329del, NC_000009.11:g.125659324_125659329del, NC_000009.11:g.125659325_125659329del, NC_000009.11:g.125659326_125659329del, NC_000009.11:g.125659327_125659329del, NC_000009.11:g.125659328_125659329del, NC_000009.11:g.125659329del, NC_000009.11:g.125659329dup, NC_000009.11:g.125659328_125659329dup, NC_000009.11:g.125659327_125659329dup, NC_000009.11:g.125659318_125659329dup, NC_000009.11:g.125659313_125659329dup

              7.

              rs1491364359 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TG>- [Show Flanks]
                Chromosome:
                9:122859274 (GRCh38)
                9:125621553 (GRCh37)
                Canonical SPDI:
                NC_000009.12:122859273:TG:
                Gene:
                RC3H2 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:

                8.

                rs1491360635 has merged into rs11321863 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  9:122881468 (GRCh38)
                  9:125643747 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:122881457:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  RC3H2 (Varview), SNORD90 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAA=0./0 (ALFA)
                  -=0.2595/1000 (ALSPAC)
                  HGVS:
                  NC_000009.12:g.122881468_122881476del, NC_000009.12:g.122881470_122881476del, NC_000009.12:g.122881471_122881476del, NC_000009.12:g.122881472_122881476del, NC_000009.12:g.122881473_122881476del, NC_000009.12:g.122881474_122881476del, NC_000009.12:g.122881475_122881476del, NC_000009.12:g.122881476del, NC_000009.12:g.122881476dup, NC_000009.12:g.122881475_122881476dup, NC_000009.12:g.122881474_122881476dup, NC_000009.12:g.122881473_122881476dup, NC_000009.12:g.122881470_122881476dup, NC_000009.11:g.125643747_125643755del, NC_000009.11:g.125643749_125643755del, NC_000009.11:g.125643750_125643755del, NC_000009.11:g.125643751_125643755del, NC_000009.11:g.125643752_125643755del, NC_000009.11:g.125643753_125643755del, NC_000009.11:g.125643754_125643755del, NC_000009.11:g.125643755del, NC_000009.11:g.125643755dup, NC_000009.11:g.125643754_125643755dup, NC_000009.11:g.125643753_125643755dup, NC_000009.11:g.125643752_125643755dup, NC_000009.11:g.125643749_125643755dup

                  9.

                  rs1491341478 has merged into rs34377701 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG [Show Flanks]
                    Chromosome:
                    9:122871516 (GRCh38)
                    9:125633795 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:122871506:GGGGGGGGGGG:GGGGGGGGG,NC_000009.12:122871506:GGGGGGGGGGG:GGGGGGGGGG,NC_000009.12:122871506:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000009.12:122871506:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000009.12:122871506:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000009.12:122871506:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000009.12:122871506:GGGGGGGGGGG:GGGGGGGGGGGGGGGG
                    Gene:
                    RC3H2 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GGGGGGGGGGGGGG=0./0 (ALFA)
                    -=0.17692/886 (1000Genomes)
                    HGVS:

                    10.

                    rs1491330527 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      9:122881457 (GRCh38)
                      9:125643736 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:122881456:CA:
                      Gene:
                      RC3H2 (Varview), SNORD90 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.00017/2 (ALFA)
                      HGVS:

                      11.

                      rs1491322632 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        9:122880493 (GRCh38)
                        9:125642773 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:122880493:T:TT
                        Gene:
                        RC3H2 (Varview), SNORD90 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,intron_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TT=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1491319278 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          AT>- [Show Flanks]
                          Chromosome:
                          9:122891012 (GRCh38)
                          9:125653291 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:122891011:AT:
                          Gene:
                          RC3H2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.000612/10 (ALFA)
                          -=0.000248/26 (GnomAD)
                          HGVS:

                          13.

                          rs1491238014 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->GATT [Show Flanks]
                            Chromosome:
                            9:122891590 (GRCh38)
                            9:125653870 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:122891590:TGATT:TGATTGATT
                            Gene:
                            RC3H2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TGATTGATT=0./0 (ALFA)
                            TGAT=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1491172398 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->TTTG,TTTTTTTTTTTG,TTTTTTTTTTTTG,TTTTTTTTTTTTGTTG,TTTTTTTTTTTTTTA [Show Flanks]
                              Chromosome:
                              9:122859274 (GRCh38)
                              9:125621554 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:122859274::TTTG,NC_000009.12:122859274::TTTTTTTTTTTG,NC_000009.12:122859274::TTTTTTTTTTTTG,NC_000009.12:122859274::TTTTTTTTTTTTGTTG,NC_000009.12:122859274::TTTTTTTTTTTTTTA
                              Gene:
                              RC3H2 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TTTTTTTTTTTG=0./0 (ALFA)
                              HGVS:

                              15.

                              rs1491134326 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                9:122870413 (GRCh38)
                                9:125632692 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:122870411:ACA:A
                                Gene:
                                RC3H2 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.00008/1 (ALFA)
                                -=0.00144/72 (GnomAD)
                                HGVS:

                                16.

                                rs1491102784 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->TC,TTC [Show Flanks]
                                  Chromosome:
                                  9:122899118 (GRCh38)
                                  9:125661398 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:122899118::TC,NC_000009.12:122899118::TTC
                                  Gene:
                                  RC3H2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTC=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1491083586 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->G [Show Flanks]
                                    Chromosome:
                                    9:122896068 (GRCh38)
                                    9:125658348 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:122896068::G
                                    Gene:
                                    RC3H2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    G=0.004602/643 (GnomAD)
                                    G=0.004997/32 (1000Genomes)
                                    HGVS:

                                    18.

                                    rs1491083301 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      AG>- [Show Flanks]
                                      Chromosome:
                                      9:122855134 (GRCh38)
                                      9:125617413 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:122855133:AG:
                                      Gene:
                                      RC3H2 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      HGVS:

                                      19.

                                      rs1491021502 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AG>- [Show Flanks]
                                        Chromosome:
                                        9:122905890 (GRCh38)
                                        9:125668169 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:122905888:GAG:G
                                        Gene:
                                        RC3H2 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0.00008/1 (ALFA)
                                        HGVS:

                                        20.

                                        rs1490999476 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          9:122857086 (GRCh38)
                                          9:125619365 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:122857085:G:A
                                          Gene:
                                          RC3H2 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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