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Items: 1 to 20 of 17705

1.

rs1491443808 has merged into rs578052635 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTT>-,TT,TTT,TTTTT [Show Flanks]
    Chromosome:
    2:135915112 (GRCh38)
    2:136672682 (GRCh37)
    Canonical SPDI:
    NC_000002.12:135915106:TTTTTTTTT:TTTTT,NC_000002.12:135915106:TTTTTTTTT:TTTTTTT,NC_000002.12:135915106:TTTTTTTTT:TTTTTTTT,NC_000002.12:135915106:TTTTTTTTT:TTTTTTTTTT
    Gene:
    DARS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTT=0./0 (ALFA)
    -=0.000189/50 (TOPMED)
    T=0.001117/5 (Estonian)
    T=0.001946/33 (TOMMO)
    T=0.006667/4 (NorthernSweden)
    HGVS:

    2.

    rs1491340575 has merged into rs1170740469 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
      Chromosome:
      2:135975767 (GRCh38)
      2:136733337 (GRCh37)
      Canonical SPDI:
      NC_000002.12:135975753:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:135975753:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:135975753:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:135975753:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:135975753:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:135975753:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:135975753:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:135975753:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135975753:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135975753:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      DARS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAAA=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      NC_000002.12:g.135975767_135975771del, NC_000002.12:g.135975768_135975771del, NC_000002.12:g.135975769_135975771del, NC_000002.12:g.135975770_135975771del, NC_000002.12:g.135975771del, NC_000002.12:g.135975771dup, NC_000002.12:g.135975770_135975771dup, NC_000002.12:g.135975769_135975771dup, NC_000002.12:g.135975768_135975771dup, NC_000002.12:g.135975767_135975771dup, NC_000002.11:g.136733337_136733341del, NC_000002.11:g.136733338_136733341del, NC_000002.11:g.136733339_136733341del, NC_000002.11:g.136733340_136733341del, NC_000002.11:g.136733341del, NC_000002.11:g.136733341dup, NC_000002.11:g.136733340_136733341dup, NC_000002.11:g.136733339_136733341dup, NC_000002.11:g.136733338_136733341dup, NC_000002.11:g.136733337_136733341dup, NG_034149.1:g.14927_14931del, NG_034149.1:g.14928_14931del, NG_034149.1:g.14929_14931del, NG_034149.1:g.14930_14931del, NG_034149.1:g.14931del, NG_034149.1:g.14931dup, NG_034149.1:g.14930_14931dup, NG_034149.1:g.14929_14931dup, NG_034149.1:g.14928_14931dup, NG_034149.1:g.14927_14931dup

      3.

      rs1491280514 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        2:135928672 (GRCh38)
        2:136686242 (GRCh37)
        Canonical SPDI:
        NC_000002.12:135928671:CT:
        Gene:
        DARS1 (Varview), LOC124906078 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000007/1 (GnomAD)
        HGVS:

        4.

        rs1491269090 has merged into rs1217937806 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAA>-,A,AA,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          2:135970265 (GRCh38)
          2:136727835 (GRCh37)
          Canonical SPDI:
          NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135970252:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          DARS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000002.12:g.135970265_135970276del, NC_000002.12:g.135970266_135970276del, NC_000002.12:g.135970267_135970276del, NC_000002.12:g.135970268_135970276del, NC_000002.12:g.135970272_135970276del, NC_000002.12:g.135970273_135970276del, NC_000002.12:g.135970274_135970276del, NC_000002.12:g.135970275_135970276del, NC_000002.12:g.135970276del, NC_000002.12:g.135970276dup, NC_000002.12:g.135970275_135970276dup, NC_000002.12:g.135970274_135970276dup, NC_000002.12:g.135970273_135970276dup, NC_000002.12:g.135970272_135970276dup, NC_000002.12:g.135970271_135970276dup, NC_000002.12:g.135970270_135970276dup, NC_000002.12:g.135970269_135970276dup, NC_000002.12:g.135970265_135970276dup, NC_000002.11:g.136727835_136727846del, NC_000002.11:g.136727836_136727846del, NC_000002.11:g.136727837_136727846del, NC_000002.11:g.136727838_136727846del, NC_000002.11:g.136727842_136727846del, NC_000002.11:g.136727843_136727846del, NC_000002.11:g.136727844_136727846del, NC_000002.11:g.136727845_136727846del, NC_000002.11:g.136727846del, NC_000002.11:g.136727846dup, NC_000002.11:g.136727845_136727846dup, NC_000002.11:g.136727844_136727846dup, NC_000002.11:g.136727843_136727846dup, NC_000002.11:g.136727842_136727846dup, NC_000002.11:g.136727841_136727846dup, NC_000002.11:g.136727840_136727846dup, NC_000002.11:g.136727839_136727846dup, NC_000002.11:g.136727835_136727846dup, NG_034149.1:g.20421_20432del, NG_034149.1:g.20422_20432del, NG_034149.1:g.20423_20432del, NG_034149.1:g.20424_20432del, NG_034149.1:g.20428_20432del, NG_034149.1:g.20429_20432del, NG_034149.1:g.20430_20432del, NG_034149.1:g.20431_20432del, NG_034149.1:g.20432del, NG_034149.1:g.20432dup, NG_034149.1:g.20431_20432dup, NG_034149.1:g.20430_20432dup, NG_034149.1:g.20429_20432dup, NG_034149.1:g.20428_20432dup, NG_034149.1:g.20427_20432dup, NG_034149.1:g.20426_20432dup, NG_034149.1:g.20425_20432dup, NG_034149.1:g.20421_20432dup

          5.

          rs1491180306 has merged into rs59505882 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            2:135978147 (GRCh38)
            2:136735717 (GRCh37)
            Canonical SPDI:
            NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:135978142:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            DARS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAA=0./0 (ALFA)
            -=0.00006/16 (TOPMED)
            HGVS:
            NC_000002.12:g.135978147_135978165del, NC_000002.12:g.135978150_135978165del, NC_000002.12:g.135978152_135978165del, NC_000002.12:g.135978153_135978165del, NC_000002.12:g.135978154_135978165del, NC_000002.12:g.135978155_135978165del, NC_000002.12:g.135978156_135978165del, NC_000002.12:g.135978157_135978165del, NC_000002.12:g.135978158_135978165del, NC_000002.12:g.135978159_135978165del, NC_000002.12:g.135978160_135978165del, NC_000002.12:g.135978161_135978165del, NC_000002.12:g.135978162_135978165del, NC_000002.12:g.135978163_135978165del, NC_000002.12:g.135978164_135978165del, NC_000002.12:g.135978165del, NC_000002.12:g.135978165dup, NC_000002.12:g.135978164_135978165dup, NC_000002.12:g.135978163_135978165dup, NC_000002.12:g.135978162_135978165dup, NC_000002.12:g.135978161_135978165dup, NC_000002.12:g.135978160_135978165dup, NC_000002.12:g.135978159_135978165dup, NC_000002.12:g.135978158_135978165dup, NC_000002.12:g.135978157_135978165dup, NC_000002.12:g.135978156_135978165dup, NC_000002.12:g.135978155_135978165dup, NC_000002.12:g.135978154_135978165dup, NC_000002.12:g.135978153_135978165dup, NC_000002.12:g.135978152_135978165dup, NC_000002.12:g.135978151_135978165dup, NC_000002.12:g.135978150_135978165dup, NC_000002.12:g.135978149_135978165dup, NC_000002.12:g.135978148_135978165dup, NC_000002.12:g.135978147_135978165dup, NC_000002.12:g.135978146_135978165dup, NC_000002.12:g.135978144_135978165dup, NC_000002.12:g.135978165_135978166insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.135978165_135978166insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.135978165_135978166insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.135978165_135978166insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.135978165_135978166insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.136735717_136735735del, NC_000002.11:g.136735720_136735735del, NC_000002.11:g.136735722_136735735del, NC_000002.11:g.136735723_136735735del, NC_000002.11:g.136735724_136735735del, NC_000002.11:g.136735725_136735735del, NC_000002.11:g.136735726_136735735del, NC_000002.11:g.136735727_136735735del, NC_000002.11:g.136735728_136735735del, NC_000002.11:g.136735729_136735735del, NC_000002.11:g.136735730_136735735del, NC_000002.11:g.136735731_136735735del, NC_000002.11:g.136735732_136735735del, NC_000002.11:g.136735733_136735735del, NC_000002.11:g.136735734_136735735del, NC_000002.11:g.136735735del, NC_000002.11:g.136735735dup, NC_000002.11:g.136735734_136735735dup, NC_000002.11:g.136735733_136735735dup, NC_000002.11:g.136735732_136735735dup, NC_000002.11:g.136735731_136735735dup, NC_000002.11:g.136735730_136735735dup, NC_000002.11:g.136735729_136735735dup, NC_000002.11:g.136735728_136735735dup, NC_000002.11:g.136735727_136735735dup, NC_000002.11:g.136735726_136735735dup, NC_000002.11:g.136735725_136735735dup, NC_000002.11:g.136735724_136735735dup, NC_000002.11:g.136735723_136735735dup, NC_000002.11:g.136735722_136735735dup, NC_000002.11:g.136735721_136735735dup, NC_000002.11:g.136735720_136735735dup, NC_000002.11:g.136735719_136735735dup, NC_000002.11:g.136735718_136735735dup, NC_000002.11:g.136735717_136735735dup, NC_000002.11:g.136735716_136735735dup, NC_000002.11:g.136735714_136735735dup, NC_000002.11:g.136735735_136735736insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.136735735_136735736insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.136735735_136735736insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.136735735_136735736insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.136735735_136735736insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_034149.1:g.12524_12542del, NG_034149.1:g.12527_12542del, NG_034149.1:g.12529_12542del, NG_034149.1:g.12530_12542del, NG_034149.1:g.12531_12542del, NG_034149.1:g.12532_12542del, NG_034149.1:g.12533_12542del, NG_034149.1:g.12534_12542del, NG_034149.1:g.12535_12542del, NG_034149.1:g.12536_12542del, NG_034149.1:g.12537_12542del, NG_034149.1:g.12538_12542del, NG_034149.1:g.12539_12542del, NG_034149.1:g.12540_12542del, NG_034149.1:g.12541_12542del, NG_034149.1:g.12542del, NG_034149.1:g.12542dup, NG_034149.1:g.12541_12542dup, NG_034149.1:g.12540_12542dup, NG_034149.1:g.12539_12542dup, NG_034149.1:g.12538_12542dup, NG_034149.1:g.12537_12542dup, NG_034149.1:g.12536_12542dup, NG_034149.1:g.12535_12542dup, NG_034149.1:g.12534_12542dup, NG_034149.1:g.12533_12542dup, NG_034149.1:g.12532_12542dup, NG_034149.1:g.12531_12542dup, NG_034149.1:g.12530_12542dup, NG_034149.1:g.12529_12542dup, NG_034149.1:g.12528_12542dup, NG_034149.1:g.12527_12542dup, NG_034149.1:g.12526_12542dup, NG_034149.1:g.12525_12542dup, NG_034149.1:g.12524_12542dup, NG_034149.1:g.12523_12542dup, NG_034149.1:g.12521_12542dup, NG_034149.1:g.12542_12543insTTTTTTTTTTTTTTTTTTTTTTTT, NG_034149.1:g.12542_12543insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034149.1:g.12542_12543insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034149.1:g.12542_12543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034149.1:g.12542_12543insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

            6.

            rs1491167439 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->G [Show Flanks]
              Chromosome:
              2:135970253 (GRCh38)
              2:136727824 (GRCh37)
              Canonical SPDI:
              NC_000002.12:135970253::G
              Gene:
              DARS1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1491165775 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->TA [Show Flanks]
                Chromosome:
                2:135907001 (GRCh38)
                2:136664572 (GRCh37)
                Canonical SPDI:
                NC_000002.12:135907001:TA:TATA
                Gene:
                DARS1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                TATA=0./0 (ALFA)
                TA=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1491135987 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  2:135978142 (GRCh38)
                  2:136735712 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:135978141:CA:
                  Gene:
                  DARS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.00303/36 (ALFA)
                  -=0.00205/32 (TOMMO)
                  HGVS:

                  9.

                  rs1491049602 [Homo sapiens]
                    Variant type:
                    SNV:
                    Alleles:
                    ->AAAAAAAACAAAAAAAAAAAAAAAAA
                    Chromosome:
                    no mapping
                    Canonical SPDI:

                    10.

                    rs1490981933 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      2:135953301 (GRCh38)
                      2:136710871 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:135953300:A:C
                      Gene:
                      DARS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:

                      11.

                      rs1490866287 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        2:135976773 (GRCh38)
                        2:136734343 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:135976772:C:A,NC_000002.12:135976772:C:T
                        Gene:
                        DARS1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.00025/3 (ALFA)
                        A=0.02435/71 (KOREAN)
                        HGVS:

                        12.

                        rs1490856892 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          2:135927211 (GRCh38)
                          2:136684781 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:135927210:C:A,NC_000002.12:135927210:C:G,NC_000002.12:135927210:C:T
                          Gene:
                          DARS1 (Varview), LOC124906078 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1490829376 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            2:135985045 (GRCh38)
                            2:136742615 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:135985044:T:A
                            Gene:
                            DARS1 (Varview), DARS1-AS1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,intron_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000011/3 (TOPMED)
                            HGVS:

                            14.

                            rs1490812666 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:135917859 (GRCh38)
                              2:136675429 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:135917858:T:C
                              Gene:
                              DARS1 (Varview)
                              Functional Consequence:
                              intron_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.

                              rs1490794609 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:135984038 (GRCh38)
                                2:136741608 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:135984037:G:A
                                Gene:
                                DARS1 (Varview), DARS1-AS1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                A=0.000014/2 (GnomAD)
                                HGVS:

                                16.

                                rs1490702839 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,G [Show Flanks]
                                  Chromosome:
                                  2:135936968 (GRCh38)
                                  2:136694538 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:135936967:T:A,NC_000002.12:135936967:T:G
                                  Gene:
                                  DARS1 (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:

                                  17.

                                  rs1490669247 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:135971100 (GRCh38)
                                    2:136728670 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:135971099:C:T
                                    Gene:
                                    DARS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000224/1 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000223/1 (Estonian)
                                    HGVS:

                                    18.

                                    rs1490646023 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:135927819 (GRCh38)
                                      2:136685389 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:135927818:T:C
                                      Gene:
                                      DARS1 (Varview), LOC124906078 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000008/2 (TOPMED)
                                      C=0.000014/2 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490641634 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        2:135937200 (GRCh38)
                                        2:136694770 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:135937199:T:C
                                        Gene:
                                        DARS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490641070 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:135983426 (GRCh38)
                                          2:136740996 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:135983425:G:A
                                          Gene:
                                          DARS1 (Varview), DARS1-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000008/2 (TOPMED)
                                          HGVS:

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