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Items: 1 to 20 of 22006

1.

rs1491462246 has merged into rs34618531 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT [Show Flanks]
    Chromosome:
    4:62141932 (GRCh38)
    4:63007650 (GRCh37)
    Canonical SPDI:
    NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000004.12:62141921:ATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT
    Gene:
    LOC101927145 (Varview), ADGRL3-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATATATAT=0./0 (ALFA)
    ATAT=0.4553/2280 (1000Genomes)
    HGVS:
    NC_000004.12:g.62141922AT[5], NC_000004.12:g.62141922AT[6], NC_000004.12:g.62141922AT[7], NC_000004.12:g.62141922AT[8], NC_000004.12:g.62141922AT[9], NC_000004.12:g.62141922AT[11], NC_000004.12:g.62141922AT[12], NC_000004.12:g.62141922AT[13], NC_000004.12:g.62141922AT[14], NC_000004.12:g.62141922AT[15], NC_000004.12:g.62141922AT[16], NC_000004.12:g.62141922AT[17], NC_000004.12:g.62141922AT[18], NC_000004.12:g.62141922AT[19], NC_000004.11:g.63007640AT[5], NC_000004.11:g.63007640AT[6], NC_000004.11:g.63007640AT[7], NC_000004.11:g.63007640AT[8], NC_000004.11:g.63007640AT[9], NC_000004.11:g.63007640AT[11], NC_000004.11:g.63007640AT[12], NC_000004.11:g.63007640AT[13], NC_000004.11:g.63007640AT[14], NC_000004.11:g.63007640AT[15], NC_000004.11:g.63007640AT[16], NC_000004.11:g.63007640AT[17], NC_000004.11:g.63007640AT[18], NC_000004.11:g.63007640AT[19]
    2.

    rs1491433233 [Homo sapiens]
      Variant type:
      SNV:
      Alleles:
      ->AAAAACCCAAAAAAAAAAAAA
      Chromosome:
      no mapping
      Canonical SPDI:
      3.

      rs1491420622 has merged into rs954289296 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        4:62096574 (GRCh38)
        4:62962292 (GRCh37)
        Canonical SPDI:
        NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62096565:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        ADGRL3-AS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000004.12:g.62096574_62096587del, NC_000004.12:g.62096576_62096587del, NC_000004.12:g.62096577_62096587del, NC_000004.12:g.62096578_62096587del, NC_000004.12:g.62096580_62096587del, NC_000004.12:g.62096581_62096587del, NC_000004.12:g.62096582_62096587del, NC_000004.12:g.62096583_62096587del, NC_000004.12:g.62096584_62096587del, NC_000004.12:g.62096585_62096587del, NC_000004.12:g.62096586_62096587del, NC_000004.12:g.62096587del, NC_000004.12:g.62096587dup, NC_000004.12:g.62096586_62096587dup, NC_000004.12:g.62096585_62096587dup, NC_000004.12:g.62096584_62096587dup, NC_000004.12:g.62096583_62096587dup, NC_000004.12:g.62096582_62096587dup, NC_000004.12:g.62096581_62096587dup, NC_000004.12:g.62096580_62096587dup, NC_000004.12:g.62096579_62096587dup, NC_000004.12:g.62096578_62096587dup, NC_000004.12:g.62096576_62096587dup, NC_000004.12:g.62096575_62096587dup, NC_000004.12:g.62096574_62096587dup, NC_000004.12:g.62096573_62096587dup, NC_000004.12:g.62096572_62096587dup, NC_000004.12:g.62096571_62096587dup, NC_000004.12:g.62096570_62096587dup, NC_000004.12:g.62096569_62096587dup, NC_000004.12:g.62096566_62096587dup, NC_000004.11:g.62962292_62962305del, NC_000004.11:g.62962294_62962305del, NC_000004.11:g.62962295_62962305del, NC_000004.11:g.62962296_62962305del, NC_000004.11:g.62962298_62962305del, NC_000004.11:g.62962299_62962305del, NC_000004.11:g.62962300_62962305del, NC_000004.11:g.62962301_62962305del, NC_000004.11:g.62962302_62962305del, NC_000004.11:g.62962303_62962305del, NC_000004.11:g.62962304_62962305del, NC_000004.11:g.62962305del, NC_000004.11:g.62962305dup, NC_000004.11:g.62962304_62962305dup, NC_000004.11:g.62962303_62962305dup, NC_000004.11:g.62962302_62962305dup, NC_000004.11:g.62962301_62962305dup, NC_000004.11:g.62962300_62962305dup, NC_000004.11:g.62962299_62962305dup, NC_000004.11:g.62962298_62962305dup, NC_000004.11:g.62962297_62962305dup, NC_000004.11:g.62962296_62962305dup, NC_000004.11:g.62962294_62962305dup, NC_000004.11:g.62962293_62962305dup, NC_000004.11:g.62962292_62962305dup, NC_000004.11:g.62962291_62962305dup, NC_000004.11:g.62962290_62962305dup, NC_000004.11:g.62962289_62962305dup, NC_000004.11:g.62962288_62962305dup, NC_000004.11:g.62962287_62962305dup, NC_000004.11:g.62962284_62962305dup
        4.

        rs1491324675 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TC>- [Show Flanks]
          Chromosome:
          4:62140651 (GRCh38)
          4:63006369 (GRCh37)
          Canonical SPDI:
          NC_000004.12:62140650:TC:
          Gene:
          LOC101927145 (Varview), ADGRL3-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency
          MAF:
          -=0.00211/45 (GnomAD)
          HGVS:
          5.

          rs1491292111 has merged into rs3048332 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            4:62140665 (GRCh38)
            4:63006383 (GRCh37)
            Canonical SPDI:
            NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62140652:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            LOC101927145 (Varview), ADGRL3-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAA=0./0 (ALFA)
            -=0.2827/1416 (1000Genomes)
            HGVS:
            6.

            rs1491286041 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GTATAT [Show Flanks]
              Chromosome:
              4:62141922 (GRCh38)
              4:63007641 (GRCh37)
              Canonical SPDI:
              NC_000004.12:62141922:TATAT:TATATGTATAT
              Gene:
              LOC101927145 (Varview), ADGRL3-AS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TATATGTATAT=0./0 (ALFA)
              TATATG=0.00037/7 (GnomAD)
              HGVS:
              7.

              rs1491285252 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->ACAC [Show Flanks]
                Chromosome:
                4:62086410 (GRCh38)
                4:62952129 (GRCh37)
                Canonical SPDI:
                NC_000004.12:62086410:ACACAC:ACACACACAC
                Gene:
                ADGRL3-AS1 (Varview)
                Functional Consequence:
                intron_variant
                HGVS:
                8.

                rs1491265462 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  GT>- [Show Flanks]
                  Chromosome:
                  4:62143294 (GRCh38)
                  4:63009012 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:62143293:GT:
                  Gene:
                  LOC101927145 (Varview), ADGRL3-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.000084/1 (ALFA)
                  -=0.000106/2 (TOMMO)
                  -=0.000112/13 (GnomAD)
                  HGVS:
                  9.

                  rs1491264666 has merged into rs34795556 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    4:62082683 (GRCh38)
                    4:62948401 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:62082671:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    ADGRL3-AS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAA=0./0 (ALFA)
                    AAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
                    -=0.1674/645 (ALSPAC)
                    -=0.4603/2305 (1000Genomes)
                    HGVS:
                    NC_000004.12:g.62082683_62082698del, NC_000004.12:g.62082684_62082698del, NC_000004.12:g.62082687_62082698del, NC_000004.12:g.62082688_62082698del, NC_000004.12:g.62082690_62082698del, NC_000004.12:g.62082691_62082698del, NC_000004.12:g.62082692_62082698del, NC_000004.12:g.62082694_62082698del, NC_000004.12:g.62082695_62082698del, NC_000004.12:g.62082696_62082698del, NC_000004.12:g.62082697_62082698del, NC_000004.12:g.62082698del, NC_000004.12:g.62082698dup, NC_000004.12:g.62082697_62082698dup, NC_000004.12:g.62082696_62082698dup, NC_000004.11:g.62948401_62948416del, NC_000004.11:g.62948402_62948416del, NC_000004.11:g.62948405_62948416del, NC_000004.11:g.62948406_62948416del, NC_000004.11:g.62948408_62948416del, NC_000004.11:g.62948409_62948416del, NC_000004.11:g.62948410_62948416del, NC_000004.11:g.62948412_62948416del, NC_000004.11:g.62948413_62948416del, NC_000004.11:g.62948414_62948416del, NC_000004.11:g.62948415_62948416del, NC_000004.11:g.62948416del, NC_000004.11:g.62948416dup, NC_000004.11:g.62948415_62948416dup, NC_000004.11:g.62948414_62948416dup
                    10.

                    rs1491247798 has merged into rs71213035 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      4:62143304 (GRCh38)
                      4:63009022 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:62143294:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      LOC101927145 (Varview), ADGRL3-AS1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTT=0./0 (ALFA)
                      -=0.02/12 (NorthernSweden)
                      -=0.395/15 (GENOME_DK)
                      HGVS:
                      NC_000004.12:g.62143304_62143320del, NC_000004.12:g.62143307_62143320del, NC_000004.12:g.62143308_62143320del, NC_000004.12:g.62143310_62143320del, NC_000004.12:g.62143311_62143320del, NC_000004.12:g.62143312_62143320del, NC_000004.12:g.62143313_62143320del, NC_000004.12:g.62143314_62143320del, NC_000004.12:g.62143315_62143320del, NC_000004.12:g.62143316_62143320del, NC_000004.12:g.62143317_62143320del, NC_000004.12:g.62143318_62143320del, NC_000004.12:g.62143319_62143320del, NC_000004.12:g.62143320del, NC_000004.12:g.62143320dup, NC_000004.12:g.62143319_62143320dup, NC_000004.12:g.62143318_62143320dup, NC_000004.12:g.62143317_62143320dup, NC_000004.12:g.62143316_62143320dup, NC_000004.11:g.63009022_63009038del, NC_000004.11:g.63009025_63009038del, NC_000004.11:g.63009026_63009038del, NC_000004.11:g.63009028_63009038del, NC_000004.11:g.63009029_63009038del, NC_000004.11:g.63009030_63009038del, NC_000004.11:g.63009031_63009038del, NC_000004.11:g.63009032_63009038del, NC_000004.11:g.63009033_63009038del, NC_000004.11:g.63009034_63009038del, NC_000004.11:g.63009035_63009038del, NC_000004.11:g.63009036_63009038del, NC_000004.11:g.63009037_63009038del, NC_000004.11:g.63009038del, NC_000004.11:g.63009038dup, NC_000004.11:g.63009037_63009038dup, NC_000004.11:g.63009036_63009038dup, NC_000004.11:g.63009035_63009038dup, NC_000004.11:g.63009034_63009038dup
                      11.

                      rs1491233596 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        4:62161298 (GRCh38)
                        4:63027016 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:62161297:CA:
                        Gene:
                        LOC101927145 (Varview), ADGRL3-AS1 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491204142 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->C [Show Flanks]
                          Chromosome:
                          4:62140651 (GRCh38)
                          4:63006370 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:62140651:C:CC
                          Gene:
                          LOC101927145 (Varview), ADGRL3-AS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          CC=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491173052 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TA>- [Show Flanks]
                            Chromosome:
                            4:62082671 (GRCh38)
                            4:62948389 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:62082670:TA:
                            Gene:
                            ADGRL3-AS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0.00008/1 (ALFA)
                            HGVS:
                            14.

                            rs1491133059 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->C [Show Flanks]
                              Chromosome:
                              4:62096566 (GRCh38)
                              4:62962285 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:62096566::C
                              Gene:
                              ADGRL3-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491071482 has merged into rs1553928942 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT [Show Flanks]
                                Chromosome:
                                4:62142065 (GRCh38)
                                4:63007783 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:62142059:TATATATAT:TATAT,NC_000004.12:62142059:TATATATAT:TATATAT,NC_000004.12:62142059:TATATATAT:TATATATATAT,NC_000004.12:62142059:TATATATAT:TATATATATATAT,NC_000004.12:62142059:TATATATAT:TATATATATATATAT,NC_000004.12:62142059:TATATATAT:TATATATATATATATAT,NC_000004.12:62142059:TATATATAT:TATATATATATATATATAT
                                Gene:
                                LOC101927145 (Varview), ADGRL3-AS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TATATATATAT=0./0 (ALFA)
                                -=0.00676/4 (NorthernSweden)
                                TA=0.00789/132 (TOMMO)
                                TA=0.01429/26 (Korea1K)
                                HGVS:
                                16.

                                rs1491059769 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  TT>- [Show Flanks]
                                  Chromosome:
                                  4:62158914 (GRCh38)
                                  4:63024632 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:62158913:TT:
                                  Gene:
                                  LOC101927145 (Varview), ADGRL3-AS1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000015/2 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491042641 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->G,GTATACTC [Show Flanks]
                                    Chromosome:
                                    4:62106585 (GRCh38)
                                    4:62972304 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:62106585::G,NC_000004.12:62106585::GTATACTC
                                    Gene:
                                    ADGRL3-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    GTATACTC=0./0 (ALFA)
                                    HGVS:
                                    18.

                                    rs1491017076 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->AA [Show Flanks]
                                      Chromosome:
                                      4:62155369 (GRCh38)
                                      4:63021088 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:62155369:AA:AAAA
                                      Gene:
                                      LOC101927145 (Varview), ADGRL3-AS1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAA=0.000061/1 (ALFA)
                                      AA=0.000004/1 (TOPMED)
                                      AA=0.000008/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491014434 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GA>- [Show Flanks]
                                        Chromosome:
                                        4:62104327 (GRCh38)
                                        4:62970045 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:62104325:AGA:A
                                        Gene:
                                        ADGRL3-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.132374/1997 (ALFA)
                                        -=0.051313/859 (TOMMO)
                                        -=0.285007/36836 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491007220 has merged into rs112701472 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA [Show Flanks]
                                          Chromosome:
                                          4:62104321 (GRCh38)
                                          4:62970039 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:62104309:ACACACACACACACACA:ACACACACACA,NC_000004.12:62104309:ACACACACACACACACA:ACACACACACACA,NC_000004.12:62104309:ACACACACACACACACA:ACACACACACACACA,NC_000004.12:62104309:ACACACACACACACACA:ACACACACACACACACACA,NC_000004.12:62104309:ACACACACACACACACA:ACACACACACACACACACACA,NC_000004.12:62104309:ACACACACACACACACA:ACACACACACACACACACACACA
                                          Gene:
                                          ADGRL3-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          ACACACACACACA=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          AC=0.219643/984 (Estonian)
                                          AC=0.225/9 (GENOME_DK)
                                          AC=0.24/144 (NorthernSweden)
                                          AC=0.253552/464 (Korea1K)
                                          -=0.363727/363 (GoNL)
                                          -=0.445887/2233 (1000Genomes)
                                          HGVS:

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