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Items: 1 to 20 of 6629

1.

rs1491561186 has merged into rs57719994 [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,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    1:25846427 (GRCh38)
    1:26172918 (GRCh37)
    Canonical SPDI:
    NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    AUNIP (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAA=0./0 (ALFA)
    AAAAAAAAAA=0./0 (GENOME_DK)
    HGVS:
    NC_000001.11:g.25846427_25846442del, NC_000001.11:g.25846428_25846442del, NC_000001.11:g.25846429_25846442del, NC_000001.11:g.25846430_25846442del, NC_000001.11:g.25846431_25846442del, NC_000001.11:g.25846432_25846442del, NC_000001.11:g.25846433_25846442del, NC_000001.11:g.25846434_25846442del, NC_000001.11:g.25846435_25846442del, NC_000001.11:g.25846436_25846442del, NC_000001.11:g.25846437_25846442del, NC_000001.11:g.25846438_25846442del, NC_000001.11:g.25846439_25846442del, NC_000001.11:g.25846440_25846442del, NC_000001.11:g.25846441_25846442del, NC_000001.11:g.25846442del, NC_000001.11:g.25846442dup, NC_000001.11:g.25846441_25846442dup, NC_000001.11:g.25846440_25846442dup, NC_000001.11:g.25846439_25846442dup, NC_000001.11:g.25846438_25846442dup, NC_000001.11:g.25846437_25846442dup, NC_000001.11:g.25846436_25846442dup, NC_000001.11:g.25846435_25846442dup, NC_000001.11:g.25846434_25846442dup, NC_000001.11:g.25846433_25846442dup, NC_000001.11:g.25846432_25846442dup, NC_000001.11:g.25846429_25846442dup, NC_000001.11:g.25846427_25846442dup, NC_000001.11:g.25846423_25846442dup, NC_000001.10:g.26172918_26172933del, NC_000001.10:g.26172919_26172933del, NC_000001.10:g.26172920_26172933del, NC_000001.10:g.26172921_26172933del, NC_000001.10:g.26172922_26172933del, NC_000001.10:g.26172923_26172933del, NC_000001.10:g.26172924_26172933del, NC_000001.10:g.26172925_26172933del, NC_000001.10:g.26172926_26172933del, NC_000001.10:g.26172927_26172933del, NC_000001.10:g.26172928_26172933del, NC_000001.10:g.26172929_26172933del, NC_000001.10:g.26172930_26172933del, NC_000001.10:g.26172931_26172933del, NC_000001.10:g.26172932_26172933del, NC_000001.10:g.26172933del, NC_000001.10:g.26172933dup, NC_000001.10:g.26172932_26172933dup, NC_000001.10:g.26172931_26172933dup, NC_000001.10:g.26172930_26172933dup, NC_000001.10:g.26172929_26172933dup, NC_000001.10:g.26172928_26172933dup, NC_000001.10:g.26172927_26172933dup, NC_000001.10:g.26172926_26172933dup, NC_000001.10:g.26172925_26172933dup, NC_000001.10:g.26172924_26172933dup, NC_000001.10:g.26172923_26172933dup, NC_000001.10:g.26172920_26172933dup, NC_000001.10:g.26172918_26172933dup, NC_000001.10:g.26172914_26172933dup

    2.

    rs1491533679 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      1:25846417 (GRCh38)
      1:26172909 (GRCh37)
      Canonical SPDI:
      NC_000001.11:25846417::C
      Gene:
      AUNIP (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:

      3.

      rs1491351293 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        1:25846416 (GRCh38)
        1:26172907 (GRCh37)
        Canonical SPDI:
        NC_000001.11:25846415:CA:
        Gene:
        AUNIP (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:

        4.

        rs1491261212 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          1:25834615 (GRCh38)
          1:26161106 (GRCh37)
          Canonical SPDI:
          NC_000001.11:25834614:CA:
          Gene:
          AUNIP (Varview)
          Functional Consequence:
          3_prime_UTR_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.0156/185 (ALFA)
          -=0.00059/26 (GnomAD)
          -=0.00294/83 (TOMMO)
          HGVS:

          5.

          rs1491254901 has merged into rs57719994 [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,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            1:25846427 (GRCh38)
            1:26172918 (GRCh37)
            Canonical SPDI:
            NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25846416:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            AUNIP (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAA=0./0 (ALFA)
            AAAAAAAAAA=0./0 (GENOME_DK)
            HGVS:
            NC_000001.11:g.25846427_25846442del, NC_000001.11:g.25846428_25846442del, NC_000001.11:g.25846429_25846442del, NC_000001.11:g.25846430_25846442del, NC_000001.11:g.25846431_25846442del, NC_000001.11:g.25846432_25846442del, NC_000001.11:g.25846433_25846442del, NC_000001.11:g.25846434_25846442del, NC_000001.11:g.25846435_25846442del, NC_000001.11:g.25846436_25846442del, NC_000001.11:g.25846437_25846442del, NC_000001.11:g.25846438_25846442del, NC_000001.11:g.25846439_25846442del, NC_000001.11:g.25846440_25846442del, NC_000001.11:g.25846441_25846442del, NC_000001.11:g.25846442del, NC_000001.11:g.25846442dup, NC_000001.11:g.25846441_25846442dup, NC_000001.11:g.25846440_25846442dup, NC_000001.11:g.25846439_25846442dup, NC_000001.11:g.25846438_25846442dup, NC_000001.11:g.25846437_25846442dup, NC_000001.11:g.25846436_25846442dup, NC_000001.11:g.25846435_25846442dup, NC_000001.11:g.25846434_25846442dup, NC_000001.11:g.25846433_25846442dup, NC_000001.11:g.25846432_25846442dup, NC_000001.11:g.25846429_25846442dup, NC_000001.11:g.25846427_25846442dup, NC_000001.11:g.25846423_25846442dup, NC_000001.10:g.26172918_26172933del, NC_000001.10:g.26172919_26172933del, NC_000001.10:g.26172920_26172933del, NC_000001.10:g.26172921_26172933del, NC_000001.10:g.26172922_26172933del, NC_000001.10:g.26172923_26172933del, NC_000001.10:g.26172924_26172933del, NC_000001.10:g.26172925_26172933del, NC_000001.10:g.26172926_26172933del, NC_000001.10:g.26172927_26172933del, NC_000001.10:g.26172928_26172933del, NC_000001.10:g.26172929_26172933del, NC_000001.10:g.26172930_26172933del, NC_000001.10:g.26172931_26172933del, NC_000001.10:g.26172932_26172933del, NC_000001.10:g.26172933del, NC_000001.10:g.26172933dup, NC_000001.10:g.26172932_26172933dup, NC_000001.10:g.26172931_26172933dup, NC_000001.10:g.26172930_26172933dup, NC_000001.10:g.26172929_26172933dup, NC_000001.10:g.26172928_26172933dup, NC_000001.10:g.26172927_26172933dup, NC_000001.10:g.26172926_26172933dup, NC_000001.10:g.26172925_26172933dup, NC_000001.10:g.26172924_26172933dup, NC_000001.10:g.26172923_26172933dup, NC_000001.10:g.26172920_26172933dup, NC_000001.10:g.26172918_26172933dup, NC_000001.10:g.26172914_26172933dup

            6.

            rs1491170594 has merged into rs139695812 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
              Chromosome:
              1:25834630 (GRCh38)
              1:26161121 (GRCh37)
              Canonical SPDI:
              NC_000001.11:25834615:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:25834615:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:25834615:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:25834615:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:25834615:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:25834615:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:25834615:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25834615:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25834615:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25834615:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:25834615:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              AUNIP (Varview)
              Functional Consequence:
              3_prime_UTR_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAAAAA=0./0 (ALFA)
              AA=0.1416/709 (1000Genomes)
              AA=0.4498/242 (NorthernSweden)
              HGVS:
              NC_000001.11:g.25834630_25834634del, NC_000001.11:g.25834631_25834634del, NC_000001.11:g.25834632_25834634del, NC_000001.11:g.25834633_25834634del, NC_000001.11:g.25834634del, NC_000001.11:g.25834634dup, NC_000001.11:g.25834633_25834634dup, NC_000001.11:g.25834632_25834634dup, NC_000001.11:g.25834631_25834634dup, NC_000001.11:g.25834630_25834634dup, NC_000001.11:g.25834629_25834634dup, NC_000001.10:g.26161121_26161125del, NC_000001.10:g.26161122_26161125del, NC_000001.10:g.26161123_26161125del, NC_000001.10:g.26161124_26161125del, NC_000001.10:g.26161125del, NC_000001.10:g.26161125dup, NC_000001.10:g.26161124_26161125dup, NC_000001.10:g.26161123_26161125dup, NC_000001.10:g.26161122_26161125dup, NC_000001.10:g.26161121_26161125dup, NC_000001.10:g.26161120_26161125dup, NM_024037.3:c.*373_*377del, NM_024037.3:c.*374_*377del, NM_024037.3:c.*375_*377del, NM_024037.3:c.*376_*377del, NM_024037.3:c.*377del, NM_024037.3:c.*377dup, NM_024037.3:c.*376_*377dup, NM_024037.3:c.*375_*377dup, NM_024037.3:c.*374_*377dup, NM_024037.3:c.*373_*377dup, NM_024037.3:c.*372_*377dup, NM_024037.2:c.*373_*377del, NM_024037.2:c.*374_*377del, NM_024037.2:c.*375_*377del, NM_024037.2:c.*376_*377del, NM_024037.2:c.*377del, NM_024037.2:c.*377dup, NM_024037.2:c.*376_*377dup, NM_024037.2:c.*375_*377dup, NM_024037.2:c.*374_*377dup, NM_024037.2:c.*373_*377dup, NM_024037.2:c.*372_*377dup, NM_024037.1:c.*373_*377del, NM_024037.1:c.*374_*377del, NM_024037.1:c.*375_*377del, NM_024037.1:c.*376_*377del, NM_024037.1:c.*377del, NM_024037.1:c.*377dup, NM_024037.1:c.*376_*377dup, NM_024037.1:c.*375_*377dup, NM_024037.1:c.*374_*377dup, NM_024037.1:c.*373_*377dup, NM_024037.1:c.*372_*377dup, XM_047430116.1:c.*373_*377del, XM_047430116.1:c.*374_*377del, XM_047430116.1:c.*375_*377del, XM_047430116.1:c.*376_*377del, XM_047430116.1:c.*377del, XM_047430116.1:c.*377dup, XM_047430116.1:c.*376_*377dup, XM_047430116.1:c.*375_*377dup, XM_047430116.1:c.*374_*377dup, XM_047430116.1:c.*373_*377dup, XM_047430116.1:c.*372_*377dup

              7.

              rs1491081244 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                CA>-,CACA [Show Flanks]
                Chromosome:
                1:25834637 (GRCh38)
                1:26161128 (GRCh37)
                Canonical SPDI:
                NC_000001.11:25834633:ACACA:ACA,NC_000001.11:25834633:ACACA:ACACACA
                Gene:
                AUNIP (Varview)
                Functional Consequence:
                3_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                ACA=0.000061/1 (ALFA)
                AC=0.00013/16 (GnomAD)
                -=0.000212/6 (TOMMO)
                HGVS:

                8.

                rs1490747756 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:25860348 (GRCh38)
                  1:26186839 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:25860347:C:T
                  Gene:
                  AUNIP (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000019/5 (TOPMED)
                  HGVS:

                  9.

                  rs1490674217 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:25837966 (GRCh38)
                    1:26164457 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:25837965:C:T
                    Gene:
                    AUNIP (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000015/4 (TOPMED)
                    HGVS:

                    10.

                    rs1490608227 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:25836752 (GRCh38)
                      1:26163243 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:25836751:A:G
                      Gene:
                      AUNIP (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:

                      11.

                      rs1490431779 has merged into rs1159770557 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        1:25854963 (GRCh38)
                        1:26181454 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:25854953:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        AUNIP (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTT=0./0 (ALFA)
                        HGVS:
                        NC_000001.11:g.25854963_25854974del, NC_000001.11:g.25854964_25854974del, NC_000001.11:g.25854965_25854974del, NC_000001.11:g.25854966_25854974del, NC_000001.11:g.25854967_25854974del, NC_000001.11:g.25854968_25854974del, NC_000001.11:g.25854970_25854974del, NC_000001.11:g.25854971_25854974del, NC_000001.11:g.25854972_25854974del, NC_000001.11:g.25854973_25854974del, NC_000001.11:g.25854974del, NC_000001.11:g.25854974dup, NC_000001.11:g.25854973_25854974dup, NC_000001.11:g.25854972_25854974dup, NC_000001.11:g.25854971_25854974dup, NC_000001.11:g.25854970_25854974dup, NC_000001.11:g.25854969_25854974dup, NC_000001.11:g.25854968_25854974dup, NC_000001.11:g.25854967_25854974dup, NC_000001.11:g.25854965_25854974dup, NC_000001.11:g.25854964_25854974dup, NC_000001.11:g.25854963_25854974dup, NC_000001.10:g.26181454_26181465del, NC_000001.10:g.26181455_26181465del, NC_000001.10:g.26181456_26181465del, NC_000001.10:g.26181457_26181465del, NC_000001.10:g.26181458_26181465del, NC_000001.10:g.26181459_26181465del, NC_000001.10:g.26181461_26181465del, NC_000001.10:g.26181462_26181465del, NC_000001.10:g.26181463_26181465del, NC_000001.10:g.26181464_26181465del, NC_000001.10:g.26181465del, NC_000001.10:g.26181465dup, NC_000001.10:g.26181464_26181465dup, NC_000001.10:g.26181463_26181465dup, NC_000001.10:g.26181462_26181465dup, NC_000001.10:g.26181461_26181465dup, NC_000001.10:g.26181460_26181465dup, NC_000001.10:g.26181459_26181465dup, NC_000001.10:g.26181458_26181465dup, NC_000001.10:g.26181456_26181465dup, NC_000001.10:g.26181455_26181465dup, NC_000001.10:g.26181454_26181465dup

                        12.

                        rs1490397271 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:25841361 (GRCh38)
                          1:26167852 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:25841360:A:G
                          Gene:
                          AUNIP (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490186086 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            1:25845701 (GRCh38)
                            1:26172192 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:25845700:T:G
                            Gene:
                            AUNIP (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000224/1 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000223/1 (Estonian)
                            HGVS:

                            14.

                            rs1490116183 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              1:25860716 (GRCh38)
                              1:26187207 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:25860715:A:C
                              Gene:
                              AUNIP (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1490077670 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                1:25844714 (GRCh38)
                                1:26171205 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:25844713:C:A
                                Gene:
                                AUNIP (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490073689 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  1:25843519 (GRCh38)
                                  1:26170010 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:25843518:G:C
                                  Gene:
                                  AUNIP (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490019185 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C,T [Show Flanks]
                                    Chromosome:
                                    1:25844383 (GRCh38)
                                    1:26170874 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:25844382:G:C,NC_000001.11:25844382:G:T
                                    Gene:
                                    AUNIP (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490012336 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:25860304 (GRCh38)
                                      1:26186795 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:25860303:C:T
                                      Gene:
                                      AUNIP (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1489987048 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        1:25861122 (GRCh38)
                                        1:26187613 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:25861121:G:A,NC_000001.11:25861121:G:C
                                        Gene:
                                        AUNIP (Varview), PAQR7 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        C=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1489979948 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:25845377 (GRCh38)
                                          1:26171868 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:25845376:C:T
                                          Gene:
                                          AUNIP (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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