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1.

rs1491538426 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C,CAC,CACAC,CACACAC,CACACACAC,CACACACACAC,CACACAT,CACAT,CACATT,CATT,CT,CTT,CTTT,CTTTTT [Show Flanks]
    Chromosome:
    1:32649668 (GRCh38)
    1:33115270 (GRCh37)
    Canonical SPDI:
    NC_000001.11:32649668::C,NC_000001.11:32649668::CAC,NC_000001.11:32649668::CACAC,NC_000001.11:32649668::CACACAC,NC_000001.11:32649668::CACACACAC,NC_000001.11:32649668::CACACACACAC,NC_000001.11:32649668::CACACAT,NC_000001.11:32649668::CACAT,NC_000001.11:32649668::CACATT,NC_000001.11:32649668::CATT,NC_000001.11:32649668::CT,NC_000001.11:32649668::CTT,NC_000001.11:32649668::CTTT,NC_000001.11:32649668::CTTTTT
    Gene:
    RBBP4 (Varview), ZBTB8OS (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CAC=0./0 (ALFA)
    CACACAT=0.000004/1 (TOPMED)
    CTT=0.019022/7 (NorthernSweden)
    HGVS:
    NC_000001.11:g.32649668_32649669insC, NC_000001.11:g.32649668_32649669insCAC, NC_000001.11:g.32649668_32649669insCACAC, NC_000001.11:g.32649668_32649669insCACACAC, NC_000001.11:g.32649668_32649669insCACACACAC, NC_000001.11:g.32649668_32649669insCACACACACAC, NC_000001.11:g.32649668_32649669insCACACAT, NC_000001.11:g.32649668_32649669insCACAT, NC_000001.11:g.32649668_32649669insCACATT, NC_000001.11:g.32649668_32649669insCATT, NC_000001.11:g.32649668_32649669insCT, NC_000001.11:g.32649668_32649669insCTT, NC_000001.11:g.32649668_32649669insCTTT, NC_000001.11:g.32649668_32649669insCTTTTT, NC_000001.10:g.33115269_33115270insC, NC_000001.10:g.33115269_33115270insCAC, NC_000001.10:g.33115269_33115270insCACAC, NC_000001.10:g.33115269_33115270insCACACAC, NC_000001.10:g.33115269_33115270insCACACACAC, NC_000001.10:g.33115269_33115270insCACACACACAC, NC_000001.10:g.33115269_33115270insCACACAT, NC_000001.10:g.33115269_33115270insCACAT, NC_000001.10:g.33115269_33115270insCACATT, NC_000001.10:g.33115269_33115270insCATT, NC_000001.10:g.33115269_33115270insCT, NC_000001.10:g.33115269_33115270insCTT, NC_000001.10:g.33115269_33115270insCTTT, NC_000001.10:g.33115269_33115270insCTTTTT

    2.

    rs1491513504 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      1:32671987 (GRCh38)
      1:33137588 (GRCh37)
      Canonical SPDI:
      NC_000001.11:32671986:AT:
      Gene:
      RBBP4 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      -=0.000022/3 (GnomAD)
      HGVS:

      3.

      rs1491485435 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TTCT [Show Flanks]
        Chromosome:
        1:32673436 (GRCh38)
        1:33139038 (GRCh37)
        Canonical SPDI:
        NC_000001.11:32673436:TTTCT:TTTCTTTCT
        Gene:
        RBBP4 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TTTCTTTCT=0.00008/1 (ALFA)
        HGVS:

        4.

        rs1491463457 has merged into rs58798267 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TA>-,TATA [Show Flanks]
          Chromosome:
          1:32658948 (GRCh38)
          1:33124549 (GRCh37)
          Canonical SPDI:
          NC_000001.11:32658946:ATA:A,NC_000001.11:32658946:ATA:ATATA
          Gene:
          RBBP4 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ATA=0.09703/1797 (ALFA)
          AT=0.023193/86 (TWINSUK)
          AT=0.026985/104 (ALSPAC)
          AT=0.05/2 (GENOME_DK)
          AT=0.05/30 (NorthernSweden)
          AT=0.115012/1927 (TOMMO)
          AT=0.142744/19496 (GnomAD)
          AT=0.173067/45809 (TOPMED)
          AT=0.188788/1209 (1000Genomes)
          HGVS:

          5.

          rs1491366149 has merged into rs35935907 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            1:32683273 (GRCh38)
            1:33148874 (GRCh37)
            Canonical SPDI:
            NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32683264:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            RBBP4 (Varview), SYNC (Varview)
            Functional Consequence:
            intron_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAA=0./0 (ALFA)
            AA=0.3429/1717 (1000Genomes)
            HGVS:
            NC_000001.11:g.32683273_32683285del, NC_000001.11:g.32683274_32683285del, NC_000001.11:g.32683275_32683285del, NC_000001.11:g.32683276_32683285del, NC_000001.11:g.32683277_32683285del, NC_000001.11:g.32683278_32683285del, NC_000001.11:g.32683279_32683285del, NC_000001.11:g.32683280_32683285del, NC_000001.11:g.32683281_32683285del, NC_000001.11:g.32683282_32683285del, NC_000001.11:g.32683283_32683285del, NC_000001.11:g.32683284_32683285del, NC_000001.11:g.32683285del, NC_000001.11:g.32683285dup, NC_000001.11:g.32683284_32683285dup, NC_000001.11:g.32683282_32683285dup, NC_000001.10:g.33148874_33148886del, NC_000001.10:g.33148875_33148886del, NC_000001.10:g.33148876_33148886del, NC_000001.10:g.33148877_33148886del, NC_000001.10:g.33148878_33148886del, NC_000001.10:g.33148879_33148886del, NC_000001.10:g.33148880_33148886del, NC_000001.10:g.33148881_33148886del, NC_000001.10:g.33148882_33148886del, NC_000001.10:g.33148883_33148886del, NC_000001.10:g.33148884_33148886del, NC_000001.10:g.33148885_33148886del, NC_000001.10:g.33148886del, NC_000001.10:g.33148886dup, NC_000001.10:g.33148885_33148886dup, NC_000001.10:g.33148883_33148886dup, NG_012421.1:g.24484_24496del, NG_012421.1:g.24485_24496del, NG_012421.1:g.24486_24496del, NG_012421.1:g.24487_24496del, NG_012421.1:g.24488_24496del, NG_012421.1:g.24489_24496del, NG_012421.1:g.24490_24496del, NG_012421.1:g.24491_24496del, NG_012421.1:g.24492_24496del, NG_012421.1:g.24493_24496del, NG_012421.1:g.24494_24496del, NG_012421.1:g.24495_24496del, NG_012421.1:g.24496del, NG_012421.1:g.24496dup, NG_012421.1:g.24495_24496dup, NG_012421.1:g.24493_24496dup, NM_005610.3:c.*3568_*3580del, NM_005610.3:c.*3569_*3580del, NM_005610.3:c.*3570_*3580del, NM_005610.3:c.*3571_*3580del, NM_005610.3:c.*3572_*3580del, NM_005610.3:c.*3573_*3580del, NM_005610.3:c.*3574_*3580del, NM_005610.3:c.*3575_*3580del, NM_005610.3:c.*3576_*3580del, NM_005610.3:c.*3577_*3580del, NM_005610.3:c.*3578_*3580del, NM_005610.3:c.*3579_*3580del, NM_005610.3:c.*3580del, NM_005610.3:c.*3580dup, NM_005610.3:c.*3579_*3580dup, NM_005610.3:c.*3577_*3580dup, NM_005610.2:c.*3568_*3580del, NM_005610.2:c.*3569_*3580del, NM_005610.2:c.*3570_*3580del, NM_005610.2:c.*3571_*3580del, NM_005610.2:c.*3572_*3580del, NM_005610.2:c.*3573_*3580del, NM_005610.2:c.*3574_*3580del, NM_005610.2:c.*3575_*3580del, NM_005610.2:c.*3576_*3580del, NM_005610.2:c.*3577_*3580del, NM_005610.2:c.*3578_*3580del, NM_005610.2:c.*3579_*3580del, NM_005610.2:c.*3580del, NM_005610.2:c.*3580dup, NM_005610.2:c.*3579_*3580dup, NM_005610.2:c.*3577_*3580dup, NM_001135255.2:c.*3568_*3580del, NM_001135255.2:c.*3569_*3580del, NM_001135255.2:c.*3570_*3580del, NM_001135255.2:c.*3571_*3580del, NM_001135255.2:c.*3572_*3580del, NM_001135255.2:c.*3573_*3580del, NM_001135255.2:c.*3574_*3580del, NM_001135255.2:c.*3575_*3580del, NM_001135255.2:c.*3576_*3580del, NM_001135255.2:c.*3577_*3580del, NM_001135255.2:c.*3578_*3580del, NM_001135255.2:c.*3579_*3580del, NM_001135255.2:c.*3580del, NM_001135255.2:c.*3580dup, NM_001135255.2:c.*3579_*3580dup, NM_001135255.2:c.*3577_*3580dup, NM_001135255.1:c.*3568_*3580del, NM_001135255.1:c.*3569_*3580del, NM_001135255.1:c.*3570_*3580del, NM_001135255.1:c.*3571_*3580del, NM_001135255.1:c.*3572_*3580del, NM_001135255.1:c.*3573_*3580del, NM_001135255.1:c.*3574_*3580del, NM_001135255.1:c.*3575_*3580del, NM_001135255.1:c.*3576_*3580del, NM_001135255.1:c.*3577_*3580del, NM_001135255.1:c.*3578_*3580del, NM_001135255.1:c.*3579_*3580del, NM_001135255.1:c.*3580del, NM_001135255.1:c.*3580dup, NM_001135255.1:c.*3579_*3580dup, NM_001135255.1:c.*3577_*3580dup, NM_001135256.2:c.*3568_*3580del, NM_001135256.2:c.*3569_*3580del, NM_001135256.2:c.*3570_*3580del, NM_001135256.2:c.*3571_*3580del, NM_001135256.2:c.*3572_*3580del, NM_001135256.2:c.*3573_*3580del, NM_001135256.2:c.*3574_*3580del, NM_001135256.2:c.*3575_*3580del, NM_001135256.2:c.*3576_*3580del, NM_001135256.2:c.*3577_*3580del, NM_001135256.2:c.*3578_*3580del, NM_001135256.2:c.*3579_*3580del, NM_001135256.2:c.*3580del, NM_001135256.2:c.*3580dup, NM_001135256.2:c.*3579_*3580dup, NM_001135256.2:c.*3577_*3580dup, NM_001135256.1:c.*3568_*3580del, NM_001135256.1:c.*3569_*3580del, NM_001135256.1:c.*3570_*3580del, NM_001135256.1:c.*3571_*3580del, NM_001135256.1:c.*3572_*3580del, NM_001135256.1:c.*3573_*3580del, NM_001135256.1:c.*3574_*3580del, NM_001135256.1:c.*3575_*3580del, NM_001135256.1:c.*3576_*3580del, NM_001135256.1:c.*3577_*3580del, NM_001135256.1:c.*3578_*3580del, NM_001135256.1:c.*3579_*3580del, NM_001135256.1:c.*3580del, NM_001135256.1:c.*3580dup, NM_001135256.1:c.*3579_*3580dup, NM_001135256.1:c.*3577_*3580dup, XM_024450010.2:c.*509_*521del, XM_024450010.2:c.*510_*521del, XM_024450010.2:c.*511_*521del, XM_024450010.2:c.*512_*521del, XM_024450010.2:c.*513_*521del, XM_024450010.2:c.*514_*521del, XM_024450010.2:c.*515_*521del, XM_024450010.2:c.*516_*521del, XM_024450010.2:c.*517_*521del, XM_024450010.2:c.*518_*521del, XM_024450010.2:c.*519_*521del, XM_024450010.2:c.*520_*521del, XM_024450010.2:c.*521del, XM_024450010.2:c.*521dup, XM_024450010.2:c.*520_*521dup, XM_024450010.2:c.*518_*521dup, XM_024450010.1:c.*509_*521del, XM_024450010.1:c.*510_*521del, XM_024450010.1:c.*511_*521del, XM_024450010.1:c.*512_*521del, XM_024450010.1:c.*513_*521del, XM_024450010.1:c.*514_*521del, XM_024450010.1:c.*515_*521del, XM_024450010.1:c.*516_*521del, XM_024450010.1:c.*517_*521del, XM_024450010.1:c.*518_*521del, XM_024450010.1:c.*519_*521del, XM_024450010.1:c.*520_*521del, XM_024450010.1:c.*521del, XM_024450010.1:c.*521dup, XM_024450010.1:c.*520_*521dup, XM_024450010.1:c.*518_*521dup, XM_024450011.2:c.*509_*521del, XM_024450011.2:c.*510_*521del, XM_024450011.2:c.*511_*521del, XM_024450011.2:c.*512_*521del, XM_024450011.2:c.*513_*521del, XM_024450011.2:c.*514_*521del, XM_024450011.2:c.*515_*521del, XM_024450011.2:c.*516_*521del, XM_024450011.2:c.*517_*521del, XM_024450011.2:c.*518_*521del, XM_024450011.2:c.*519_*521del, XM_024450011.2:c.*520_*521del, XM_024450011.2:c.*521del, XM_024450011.2:c.*521dup, XM_024450011.2:c.*520_*521dup, XM_024450011.2:c.*518_*521dup, XM_024450011.1:c.*509_*521del, XM_024450011.1:c.*510_*521del, XM_024450011.1:c.*511_*521del, XM_024450011.1:c.*512_*521del, XM_024450011.1:c.*513_*521del, XM_024450011.1:c.*514_*521del, XM_024450011.1:c.*515_*521del, XM_024450011.1:c.*516_*521del, XM_024450011.1:c.*517_*521del, XM_024450011.1:c.*518_*521del, XM_024450011.1:c.*519_*521del, XM_024450011.1:c.*520_*521del, XM_024450011.1:c.*521del, XM_024450011.1:c.*521dup, XM_024450011.1:c.*520_*521dup, XM_024450011.1:c.*518_*521dup, XM_024450013.2:c.*509_*521del, XM_024450013.2:c.*510_*521del, XM_024450013.2:c.*511_*521del, XM_024450013.2:c.*512_*521del, XM_024450013.2:c.*513_*521del, XM_024450013.2:c.*514_*521del, XM_024450013.2:c.*515_*521del, XM_024450013.2:c.*516_*521del, XM_024450013.2:c.*517_*521del, XM_024450013.2:c.*518_*521del, XM_024450013.2:c.*519_*521del, XM_024450013.2:c.*520_*521del, XM_024450013.2:c.*521del, XM_024450013.2:c.*521dup, XM_024450013.2:c.*520_*521dup, XM_024450013.2:c.*518_*521dup, XM_024450013.1:c.*509_*521del, XM_024450013.1:c.*510_*521del, XM_024450013.1:c.*511_*521del, XM_024450013.1:c.*512_*521del, XM_024450013.1:c.*513_*521del, XM_024450013.1:c.*514_*521del, XM_024450013.1:c.*515_*521del, XM_024450013.1:c.*516_*521del, XM_024450013.1:c.*517_*521del, XM_024450013.1:c.*518_*521del, XM_024450013.1:c.*519_*521del, XM_024450013.1:c.*520_*521del, XM_024450013.1:c.*521del, XM_024450013.1:c.*521dup, XM_024450013.1:c.*520_*521dup, XM_024450013.1:c.*518_*521dup

            6.

            rs1491232629 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              1:32677482 (GRCh38)
              1:33143083 (GRCh37)
              Canonical SPDI:
              NC_000001.11:32677480:ACA:A
              Gene:
              RBBP4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000169/2 (ALFA)
              -=0.000284/32 (GnomAD)
              -=0.000814/14 (TOMMO)
              -=0.048004/178 (TWINSUK)
              -=0.061235/236 (ALSPAC)
              HGVS:

              7.

              rs1491231553 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TT>- [Show Flanks]
                Chromosome:
                1:32673438 (GRCh38)
                1:33139039 (GRCh37)
                Canonical SPDI:
                NC_000001.11:32673435:TTTT:TT
                Gene:
                RBBP4 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by cluster
                HGVS:

                8.

                rs1491205549 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CC>- [Show Flanks]
                  Chromosome:
                  1:32661301 (GRCh38)
                  1:33126902 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:32661300:CC:
                  Gene:
                  RBBP4 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.00037/6 (ALFA)
                  -=0.00031/16 (GnomAD)
                  -=0.00216/8 (TWINSUK)
                  -=0.00273/45 (TOMMO)
                  -=0.00503/3 (NorthernSweden)
                  -=0.00519/20 (ALSPAC)
                  HGVS:

                  9.

                  rs1491152624 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    1:32661302 (GRCh38)
                    1:33126903 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:32661301:CT:
                    Gene:
                    RBBP4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0.000084/1 (ALFA)
                    -=0.00019/23 (GnomAD)
                    HGVS:

                    10.

                    rs1491141715 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      GT>- [Show Flanks]
                      Chromosome:
                      1:32658360 (GRCh38)
                      1:33123961 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:32658359:GT:
                      Gene:
                      RBBP4 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.0009/4 (ALFA)
                      HGVS:

                      11.

                      rs1491082165 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        1:32683288 (GRCh38)
                        1:33148890 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:32683288:T:TT
                        Gene:
                        RBBP4 (Varview), SYNC (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TT=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1491064452 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->C [Show Flanks]
                          Chromosome:
                          1:32649632 (GRCh38)
                          1:33115234 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:32649632::C
                          Gene:
                          RBBP4 (Varview), ZBTB8OS (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.01697/129 (TOMMO)
                          C=0.02627/28 (Korea1K)
                          C=0.04819/8 (NorthernSweden)
                          C=0.116/2517 (GnomAD)
                          HGVS:

                          13.

                          rs1490962079 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:32667474 (GRCh38)
                            1:33133075 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:32667473:A:G
                            Gene:
                            RBBP4 (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:

                            14.

                            rs1490882472 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              1:32660906 (GRCh38)
                              1:33126507 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:32660905:C:A,NC_000001.11:32660905:C:G,NC_000001.11:32660905:C:T
                              Gene:
                              RBBP4 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:

                              15.

                              rs1490814311 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                1:32654652 (GRCh38)
                                1:33120253 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:32654651:G:A,NC_000001.11:32654651:G:T
                                Gene:
                                RBBP4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1490720048 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  1:32669448 (GRCh38)
                                  1:33135049 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:32669447:A:T
                                  Gene:
                                  RBBP4 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.0007/3 (ALFA)
                                  T=0.0007/3 (Estonian)
                                  HGVS:

                                  17.

                                  rs1490715884 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:32666174 (GRCh38)
                                    1:33131775 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:32666173:C:T
                                    Gene:
                                    RBBP4 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490683849 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:32666672 (GRCh38)
                                      1:33132273 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:32666671:A:G
                                      Gene:
                                      RBBP4 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490593553 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        1:32653370 (GRCh38)
                                        1:33118971 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:32653369:C:G
                                        Gene:
                                        RBBP4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000066/1 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000223/1 (Estonian)
                                        HGVS:

                                        20.

                                        rs1490521352 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          1:32667035 (GRCh38)
                                          1:33132636 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:32667034:G:A,NC_000001.11:32667034:G:T
                                          Gene:
                                          RBBP4 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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