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Items: 1 to 20 of 1000

1.

rs1491463070 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TG>- [Show Flanks]
    Chromosome:
    19:54450639 (GRCh38)
    19:54961816 (GRCh37)
    Canonical SPDI:
    NC_000019.10:54450638:TG:
    Gene:
    LENG8 (Varview), LENG8-AS1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.00039/11 (TOMMO)
    HGVS:
    2.

    rs1491293479 has merged into rs76642233 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCCCC [Show Flanks]
      Chromosome:
      19:54448015 (GRCh38)
      19:54959193 (GRCh37)
      Canonical SPDI:
      NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000019.10:54448005:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC
      Gene:
      LENG8 (Varview), LENG8-AS1 (Varview)
      Functional Consequence:
      upstream_transcript_variant,2KB_upstream_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CCCCCCCCCCCCCCCC=0./0 (ALFA)
      -=0.02102/81 (ALSPAC)
      -=0.19968/1000 (1000Genomes)
      HGVS:
      NC_000019.10:g.54448015_54448018del, NC_000019.10:g.54448016_54448018del, NC_000019.10:g.54448017_54448018del, NC_000019.10:g.54448018del, NC_000019.10:g.54448018dup, NC_000019.10:g.54448017_54448018dup, NC_000019.10:g.54448016_54448018dup, NC_000019.10:g.54448012_54448018dup, NW_004166865.1:g.422382_422385del, NW_004166865.1:g.422383_422385del, NW_004166865.1:g.422384_422385del, NW_004166865.1:g.422385del, NW_004166865.1:g.422385dup, NW_004166865.1:g.422384_422385dup, NW_004166865.1:g.422383_422385dup, NW_004166865.1:g.422379_422385dup, NT_187693.1:g.430307_430310del, NT_187693.1:g.430308_430310del, NT_187693.1:g.430309_430310del, NT_187693.1:g.430310del, NT_187693.1:g.430310dup, NT_187693.1:g.430309_430310dup, NT_187693.1:g.430308_430310dup, NT_187693.1:g.430304_430310dup, NC_000019.9:g.54959193_54959196del, NC_000019.9:g.54959194_54959196del, NC_000019.9:g.54959195_54959196del, NC_000019.9:g.54959196del, NC_000019.9:g.54959196dup, NC_000019.9:g.54959195_54959196dup, NC_000019.9:g.54959194_54959196dup, NC_000019.9:g.54959190_54959196dup, NW_003571060.1:g.352704dup, NW_003571060.1:g.352702_352704del, NW_003571060.1:g.352703_352704del, NW_003571060.1:g.352704del, NW_003571060.1:g.352703_352704dup, NW_003571060.1:g.352702_352704dup, NW_003571060.1:g.352701_352704dup, NW_003571060.1:g.352697_352704dup, NW_003571054.1:g.354527_354530del, NW_003571054.1:g.354528_354530del, NW_003571054.1:g.354529_354530del, NW_003571054.1:g.354530del, NW_003571054.1:g.354530dup, NW_003571054.1:g.354529_354530dup, NW_003571054.1:g.354528_354530dup, NW_003571054.1:g.354524_354530dup
      3.

      rs1491204954 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AC>- [Show Flanks]
        Chromosome:
        19:54448005 (GRCh38)
        19:54959183 (GRCh37)
        Canonical SPDI:
        NC_000019.10:54448004:AC:
        Gene:
        LENG8 (Varview), LENG8-AS1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00067/8 (ALFA)
        -=0.00014/2 (TOMMO)
        HGVS:
        4.

        rs1491127798 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->A [Show Flanks]
          Chromosome:
          19:54448018 (GRCh38)
          19:54959197 (GRCh37)
          Canonical SPDI:
          NC_000019.10:54448018:A:AA
          Gene:
          LENG8 (Varview), LENG8-AS1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          AA=0./0 (ALFA)
          A=0.00002/2 (GnomAD)
          HGVS:
          5.

          rs1490746006 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            19:54446354 (GRCh38)
            19:54957532 (GRCh37)
            Canonical SPDI:
            NC_000019.10:54446353:A:G
            Gene:
            LENG8-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            HGVS:
            6.

            rs1490405380 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              19:54445060 (GRCh38)
              19:54956238 (GRCh37)
              Canonical SPDI:
              NC_000019.10:54445059:C:G
              Gene:
              LENG8-AS1 (Varview)
              Functional Consequence:
              non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              G=0.000007/1 (GnomAD)
              HGVS:
              7.

              rs1490254777 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                19:54446651 (GRCh38)
                19:54957829 (GRCh37)
                Canonical SPDI:
                NC_000019.10:54446650:G:A
                Gene:
                LENG8-AS1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                HGVS:
                8.

                rs1489812082 has merged into rs1408863011 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AA>-,A,AAA [Show Flanks]
                  Chromosome:
                  19:54448004 (GRCh38)
                  19:54959182 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:54448002:AAA:A,NC_000019.10:54448002:AAA:AA,NC_000019.10:54448002:AAA:AAAA
                  Gene:
                  LENG8 (Varview), LENG8-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  -=0.000748/12 (TOMMO)
                  HGVS:
                  9.

                  rs1488786942 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:54449034 (GRCh38)
                    19:54960212 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:54449033:G:A
                    Gene:
                    LENG8 (Varview), LENG8-AS1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1488443222 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      19:54448278 (GRCh38)
                      19:54959456 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:54448277:A:C
                      Gene:
                      LENG8 (Varview), LENG8-AS1 (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1488378075 has merged into rs58180121 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        19:54444682 (GRCh38)
                        19:54955863 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:54444671:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        LENG8-AS1 (Varview)
                        Functional Consequence:
                        500B_downstream_variant,downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAA=0./0 (ALFA)
                        HGVS:
                        NC_000019.10:g.54444682_54444712del, NC_000019.10:g.54444683_54444712del, NC_000019.10:g.54444685_54444712del, NC_000019.10:g.54444686_54444712del, NC_000019.10:g.54444687_54444712del, NC_000019.10:g.54444688_54444712del, NC_000019.10:g.54444689_54444712del, NC_000019.10:g.54444690_54444712del, NC_000019.10:g.54444691_54444712del, NC_000019.10:g.54444692_54444712del, NC_000019.10:g.54444693_54444712del, NC_000019.10:g.54444694_54444712del, NC_000019.10:g.54444695_54444712del, NC_000019.10:g.54444696_54444712del, NC_000019.10:g.54444697_54444712del, NC_000019.10:g.54444698_54444712del, NC_000019.10:g.54444699_54444712del, NC_000019.10:g.54444700_54444712del, NC_000019.10:g.54444701_54444712del, NC_000019.10:g.54444702_54444712del, NC_000019.10:g.54444703_54444712del, NC_000019.10:g.54444704_54444712del, NC_000019.10:g.54444705_54444712del, NC_000019.10:g.54444706_54444712del, NC_000019.10:g.54444707_54444712del, NC_000019.10:g.54444708_54444712del, NC_000019.10:g.54444709_54444712del, NC_000019.10:g.54444710_54444712del, NC_000019.10:g.54444711_54444712del, NC_000019.10:g.54444712del, NC_000019.10:g.54444712dup, NC_000019.10:g.54444711_54444712dup, NC_000019.10:g.54444710_54444712dup, NC_000019.10:g.54444709_54444712dup, NC_000019.10:g.54444708_54444712dup, NC_000019.10:g.54444705_54444712dup, NC_000019.10:g.54444703_54444712dup, NC_000019.10:g.54444702_54444712dup, NW_004166865.1:g.419049_419079del, NW_004166865.1:g.419050_419079del, NW_004166865.1:g.419052_419079del, NW_004166865.1:g.419053_419079del, NW_004166865.1:g.419054_419079del, NW_004166865.1:g.419055_419079del, NW_004166865.1:g.419056_419079del, NW_004166865.1:g.419057_419079del, NW_004166865.1:g.419058_419079del, NW_004166865.1:g.419059_419079del, NW_004166865.1:g.419060_419079del, NW_004166865.1:g.419061_419079del, NW_004166865.1:g.419062_419079del, NW_004166865.1:g.419063_419079del, NW_004166865.1:g.419064_419079del, NW_004166865.1:g.419065_419079del, NW_004166865.1:g.419066_419079del, NW_004166865.1:g.419067_419079del, NW_004166865.1:g.419068_419079del, NW_004166865.1:g.419069_419079del, NW_004166865.1:g.419070_419079del, NW_004166865.1:g.419071_419079del, NW_004166865.1:g.419072_419079del, NW_004166865.1:g.419073_419079del, NW_004166865.1:g.419074_419079del, NW_004166865.1:g.419075_419079del, NW_004166865.1:g.419076_419079del, NW_004166865.1:g.419077_419079del, NW_004166865.1:g.419078_419079del, NW_004166865.1:g.419079del, NW_004166865.1:g.419079dup, NW_004166865.1:g.419078_419079dup, NW_004166865.1:g.419077_419079dup, NW_004166865.1:g.419076_419079dup, NW_004166865.1:g.419075_419079dup, NW_004166865.1:g.419072_419079dup, NW_004166865.1:g.419070_419079dup, NW_004166865.1:g.419069_419079dup, NT_187693.1:g.427002_427004dup, NT_187693.1:g.426977_427004del, NT_187693.1:g.426978_427004del, NT_187693.1:g.426980_427004del, NT_187693.1:g.426981_427004del, NT_187693.1:g.426982_427004del, NT_187693.1:g.426983_427004del, NT_187693.1:g.426984_427004del, NT_187693.1:g.426985_427004del, NT_187693.1:g.426986_427004del, NT_187693.1:g.426987_427004del, NT_187693.1:g.426988_427004del, NT_187693.1:g.426989_427004del, NT_187693.1:g.426990_427004del, NT_187693.1:g.426991_427004del, NT_187693.1:g.426992_427004del, NT_187693.1:g.426993_427004del, NT_187693.1:g.426994_427004del, NT_187693.1:g.426995_427004del, NT_187693.1:g.426996_427004del, NT_187693.1:g.426997_427004del, NT_187693.1:g.426998_427004del, NT_187693.1:g.426999_427004del, NT_187693.1:g.427000_427004del, NT_187693.1:g.427001_427004del, NT_187693.1:g.427002_427004del, NT_187693.1:g.427003_427004del, NT_187693.1:g.427004del, NT_187693.1:g.427004dup, NT_187693.1:g.427003_427004dup, NT_187693.1:g.427001_427004dup, NT_187693.1:g.427000_427004dup, NT_187693.1:g.426999_427004dup, NT_187693.1:g.426998_427004dup, NT_187693.1:g.426997_427004dup, NT_187693.1:g.426994_427004dup, NT_187693.1:g.426992_427004dup, NT_187693.1:g.426991_427004dup, NW_003571060.1:g.349398_349399dup, NW_003571060.1:g.349371_349399del, NW_003571060.1:g.349372_349399del, NW_003571060.1:g.349374_349399del, NW_003571060.1:g.349375_349399del, NW_003571060.1:g.349376_349399del, NW_003571060.1:g.349377_349399del, NW_003571060.1:g.349378_349399del, NW_003571060.1:g.349379_349399del, NW_003571060.1:g.349380_349399del, NW_003571060.1:g.349381_349399del, NW_003571060.1:g.349382_349399del, NW_003571060.1:g.349383_349399del, NW_003571060.1:g.349384_349399del, NW_003571060.1:g.349385_349399del, NW_003571060.1:g.349386_349399del, NW_003571060.1:g.349387_349399del, NW_003571060.1:g.349388_349399del, NW_003571060.1:g.349389_349399del, NW_003571060.1:g.349390_349399del, NW_003571060.1:g.349391_349399del, NW_003571060.1:g.349392_349399del, NW_003571060.1:g.349393_349399del, NW_003571060.1:g.349394_349399del, NW_003571060.1:g.349395_349399del, NW_003571060.1:g.349396_349399del, NW_003571060.1:g.349397_349399del, NW_003571060.1:g.349398_349399del, NW_003571060.1:g.349399del, NW_003571060.1:g.349399dup, NW_003571060.1:g.349397_349399dup, NW_003571060.1:g.349396_349399dup, NW_003571060.1:g.349395_349399dup, NW_003571060.1:g.349394_349399dup, NW_003571060.1:g.349393_349399dup, NW_003571060.1:g.349390_349399dup, NW_003571060.1:g.349388_349399dup, NW_003571060.1:g.349387_349399dup, NW_003571054.1:g.351209_351222dup, NW_003571054.1:g.351206_351222del, NW_003571054.1:g.351207_351222del, NW_003571054.1:g.351209_351222del, NW_003571054.1:g.351210_351222del, NW_003571054.1:g.351211_351222del, NW_003571054.1:g.351212_351222del, NW_003571054.1:g.351213_351222del, NW_003571054.1:g.351214_351222del, NW_003571054.1:g.351215_351222del, NW_003571054.1:g.351216_351222del, NW_003571054.1:g.351217_351222del, NW_003571054.1:g.351218_351222del, NW_003571054.1:g.351219_351222del, NW_003571054.1:g.351220_351222del, NW_003571054.1:g.351221_351222del, NW_003571054.1:g.351222del, NW_003571054.1:g.351222dup, NW_003571054.1:g.351221_351222dup, NW_003571054.1:g.351220_351222dup, NW_003571054.1:g.351219_351222dup, NW_003571054.1:g.351218_351222dup, NW_003571054.1:g.351217_351222dup, NW_003571054.1:g.351216_351222dup, NW_003571054.1:g.351215_351222dup, NW_003571054.1:g.351214_351222dup, NW_003571054.1:g.351213_351222dup, NW_003571054.1:g.351212_351222dup, NW_003571054.1:g.351211_351222dup, NW_003571054.1:g.351210_351222dup, NW_003571054.1:g.351208_351222dup, NW_003571054.1:g.351207_351222dup, NW_003571054.1:g.351206_351222dup, NW_003571054.1:g.351205_351222dup, NW_003571054.1:g.351204_351222dup, NW_003571054.1:g.351201_351222dup, NW_003571054.1:g.351199_351222dup, NW_003571054.1:g.351198_351222dup, NC_000019.9:g.54955888_54955890dup, NC_000019.9:g.54955863_54955890del, NC_000019.9:g.54955864_54955890del, NC_000019.9:g.54955866_54955890del, NC_000019.9:g.54955867_54955890del, NC_000019.9:g.54955868_54955890del, NC_000019.9:g.54955869_54955890del, NC_000019.9:g.54955870_54955890del, NC_000019.9:g.54955871_54955890del, NC_000019.9:g.54955872_54955890del, NC_000019.9:g.54955873_54955890del, NC_000019.9:g.54955874_54955890del, NC_000019.9:g.54955875_54955890del, NC_000019.9:g.54955876_54955890del, NC_000019.9:g.54955877_54955890del, NC_000019.9:g.54955878_54955890del, NC_000019.9:g.54955879_54955890del, NC_000019.9:g.54955880_54955890del, NC_000019.9:g.54955881_54955890del, NC_000019.9:g.54955882_54955890del, NC_000019.9:g.54955883_54955890del, NC_000019.9:g.54955884_54955890del, NC_000019.9:g.54955885_54955890del, NC_000019.9:g.54955886_54955890del, NC_000019.9:g.54955887_54955890del, NC_000019.9:g.54955888_54955890del, NC_000019.9:g.54955889_54955890del, NC_000019.9:g.54955890del, NC_000019.9:g.54955890dup, NC_000019.9:g.54955889_54955890dup, NC_000019.9:g.54955887_54955890dup, NC_000019.9:g.54955886_54955890dup, NC_000019.9:g.54955885_54955890dup, NC_000019.9:g.54955884_54955890dup, NC_000019.9:g.54955883_54955890dup, NC_000019.9:g.54955880_54955890dup, NC_000019.9:g.54955878_54955890dup, NC_000019.9:g.54955877_54955890dup
                        12.

                        rs1488284043 has merged into rs750997555 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTTTTTTTTT>-,T,TT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                          Chromosome:
                          19:54450629 (GRCh38)
                          19:54961807 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:54450618:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                          Gene:
                          LENG8 (Varview), LENG8-AS1 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTT=0./0 (ALFA)
                          HGVS:
                          NC_000019.10:g.54450629_54450639del, NC_000019.10:g.54450630_54450639del, NC_000019.10:g.54450631_54450639del, NC_000019.10:g.54450635_54450639del, NC_000019.10:g.54450636_54450639del, NC_000019.10:g.54450637_54450639del, NC_000019.10:g.54450638_54450639del, NC_000019.10:g.54450639del, NC_000019.10:g.54450639dup, NC_000019.10:g.54450638_54450639dup, NC_000019.10:g.54450637_54450639dup, NC_000019.10:g.54450636_54450639dup, NC_000019.10:g.54450635_54450639dup, NC_000019.10:g.54450633_54450639dup, NC_000019.10:g.54450639_54450640insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.54450639_54450640insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.54450639_54450640insTTTTTTTTTTTTTTTTTTTTTTTTT, NW_004166865.1:g.424996_425006del, NW_004166865.1:g.424997_425006del, NW_004166865.1:g.424998_425006del, NW_004166865.1:g.425002_425006del, NW_004166865.1:g.425003_425006del, NW_004166865.1:g.425004_425006del, NW_004166865.1:g.425005_425006del, NW_004166865.1:g.425006del, NW_004166865.1:g.425006dup, NW_004166865.1:g.425005_425006dup, NW_004166865.1:g.425004_425006dup, NW_004166865.1:g.425003_425006dup, NW_004166865.1:g.425002_425006dup, NW_004166865.1:g.425000_425006dup, NW_004166865.1:g.425006_425007insTTTTTTTTTTTTTTTTTTTTTTT, NW_004166865.1:g.425006_425007insTTTTTTTTTTTTTTTTTTTTTTTT, NW_004166865.1:g.425006_425007insTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187693.1:g.432930dup, NT_187693.1:g.432921_432930del, NT_187693.1:g.432922_432930del, NT_187693.1:g.432923_432930del, NT_187693.1:g.432927_432930del, NT_187693.1:g.432928_432930del, NT_187693.1:g.432929_432930del, NT_187693.1:g.432930del, NT_187693.1:g.432929_432930dup, NT_187693.1:g.432928_432930dup, NT_187693.1:g.432927_432930dup, NT_187693.1:g.432926_432930dup, NT_187693.1:g.432925_432930dup, NT_187693.1:g.432923_432930dup, NT_187693.1:g.432930_432931insTTTTTTTTTTTTTTTTTTTTTTTT, NT_187693.1:g.432930_432931insTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187693.1:g.432930_432931insTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003571060.1:g.355324dup, NW_003571060.1:g.355315_355324del, NW_003571060.1:g.355316_355324del, NW_003571060.1:g.355317_355324del, NW_003571060.1:g.355321_355324del, NW_003571060.1:g.355322_355324del, NW_003571060.1:g.355323_355324del, NW_003571060.1:g.355324del, NW_003571060.1:g.355323_355324dup, NW_003571060.1:g.355322_355324dup, NW_003571060.1:g.355321_355324dup, NW_003571060.1:g.355320_355324dup, NW_003571060.1:g.355319_355324dup, NW_003571060.1:g.355317_355324dup, NW_003571060.1:g.355324_355325insTTTTTTTTTTTTTTTTTTTTTTTT, NW_003571060.1:g.355324_355325insTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003571060.1:g.355324_355325insTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003571054.1:g.357141_357151del, NW_003571054.1:g.357142_357151del, NW_003571054.1:g.357143_357151del, NW_003571054.1:g.357147_357151del, NW_003571054.1:g.357148_357151del, NW_003571054.1:g.357149_357151del, NW_003571054.1:g.357150_357151del, NW_003571054.1:g.357151del, NW_003571054.1:g.357151dup, NW_003571054.1:g.357150_357151dup, NW_003571054.1:g.357149_357151dup, NW_003571054.1:g.357148_357151dup, NW_003571054.1:g.357147_357151dup, NW_003571054.1:g.357145_357151dup, NW_003571054.1:g.357151_357152insTTTTTTTTTTTTTTTTTTTTTTT, NW_003571054.1:g.357151_357152insTTTTTTTTTTTTTTTTTTTTTTTT, NW_003571054.1:g.357151_357152insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.54961816dup, NC_000019.9:g.54961807_54961816del, NC_000019.9:g.54961808_54961816del, NC_000019.9:g.54961809_54961816del, NC_000019.9:g.54961813_54961816del, NC_000019.9:g.54961814_54961816del, NC_000019.9:g.54961815_54961816del, NC_000019.9:g.54961816del, NC_000019.9:g.54961815_54961816dup, NC_000019.9:g.54961814_54961816dup, NC_000019.9:g.54961813_54961816dup, NC_000019.9:g.54961812_54961816dup, NC_000019.9:g.54961811_54961816dup, NC_000019.9:g.54961809_54961816dup, NC_000019.9:g.54961816_54961817insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.54961816_54961817insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.54961816_54961817insTTTTTTTTTTTTTTTTTTTTTTTTTT
                          13.

                          rs1488189749 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            19:54445028 (GRCh38)
                            19:54956206 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:54445027:T:G
                            Gene:
                            LENG8-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1488133874 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              19:54446931 (GRCh38)
                              19:54958109 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:54446930:T:A
                              Gene:
                              LENG8-AS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000019/5 (TOPMED)
                              A=0.000021/3 (GnomAD)
                              HGVS:
                              15.

                              rs1487840076 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                19:54445090 (GRCh38)
                                19:54956268 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:54445089:T:C
                                Gene:
                                LENG8-AS1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000198/3 (ALFA)
                                C=0.000011/3 (TOPMED)
                                C=0.000014/2 (GnomAD)
                                C=0.000035/1 (TOMMO)
                                C=0.000446/2 (Estonian)
                                HGVS:
                                16.

                                rs1486739776 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:54449735 (GRCh38)
                                  19:54960913 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:54449734:G:A
                                  Gene:
                                  LENG8 (Varview), LENG8-AS1 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1486693096 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:54450757 (GRCh38)
                                    19:54961934 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:54450756:A:G
                                    Gene:
                                    LENG8 (Varview), LENG8-AS1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1485187386 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      19:54447637 (GRCh38)
                                      19:54958815 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:54447636:G:T
                                      Gene:
                                      LENG8 (Varview), LENG8-AS1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1484978702 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        19:54445145 (GRCh38)
                                        19:54956323 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:54445144:C:T
                                        Gene:
                                        LENG8-AS1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.000071/1 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484781652 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          19:54450324 (GRCh38)
                                          19:54961502 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:54450323:T:C
                                          Gene:
                                          LENG8 (Varview), LENG8-AS1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000008/2 (TOPMED)
                                          C=0.000014/2 (GnomAD)
                                          HGVS:

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