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Items: 1 to 20 of 4676

1.

rs1491572587 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GTGTGTGTGTGTGTGTAT,GTGTTT [Show Flanks]
    Chromosome:
    1:161214299 (GRCh38)
    1:161184090 (GRCh37)
    Canonical SPDI:
    NC_000001.11:161214299:T:TGTGTGTGTGTGTGTGTAT,NC_000001.11:161214299:T:TGTGTTT
    Gene:
    FCER1G (Varview), NDUFS2 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    TGTGTTT=0./0 (ALFA)
    TGTGTGTGTGTGTGTGTA=0.000007/1 (GnomAD)
    HGVS:
    NC_000001.11:g.161214300TG[8]TAT[1], NC_000001.11:g.161214300TG[2]TTT[1], NC_000001.10:g.161184090TG[8]TAT[1], NC_000001.10:g.161184090TG[2]TTT[1], NG_013352.1:g.19986TG[8]TAT[1], NG_013352.1:g.19986TG[2]TTT[1], NM_004550.5:c.*107TG[8]TAT[1], NM_004550.5:c.*107TG[2]TTT[1], NM_004550.4:c.*107TG[8]TAT[1], NM_004550.4:c.*107TG[2]TTT[1], NM_001166159.2:c.*359TG[8]TAT[1], NM_001166159.2:c.*359TG[2]TTT[1], NM_001166159.1:c.*359TG[8]TAT[1], NM_001166159.1:c.*359TG[2]TTT[1], NM_001377301.1:c.*359TG[8]TAT[1], NM_001377301.1:c.*359TG[2]TTT[1], NM_001377300.1:c.*359TG[8]TAT[1], NM_001377300.1:c.*359TG[2]TTT[1], NM_001377298.1:c.*107TG[8]TAT[1], NM_001377298.1:c.*107TG[2]TTT[1], NR_165188.1:n.1622TG[8]TAT[1], NR_165188.1:n.1622TG[2]TTT[1], NM_001377302.1:c.*150TG[8]TAT[1], NM_001377302.1:c.*150TG[2]TTT[1], NM_001377299.1:c.*107TG[8]TAT[1], NM_001377299.1:c.*107TG[2]TTT[1], NM_001410889.1:c.*107TG[8]TAT[1], NM_001410889.1:c.*107TG[2]TTT[1], NG_029043.1:g.4004TG[8]TAT[1], NG_029043.1:g.4004TG[2]TTT[1], XM_005245209.3:c.*107TG[8]TAT[1], XM_005245209.3:c.*107TG[2]TTT[1], XM_005245209.2:c.*107TG[8]TAT[1], XM_005245209.2:c.*107TG[2]TTT[1], XM_005245209.1:c.*107TG[8]TAT[1], XM_005245209.1:c.*107TG[2]TTT[1], XM_047421267.1:c.*107TG[8]TAT[1], XM_047421267.1:c.*107TG[2]TTT[1]

    2.

    rs1491446264 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GG [Show Flanks]
      Chromosome:
      1:161214270 (GRCh38)
      1:161184061 (GRCh37)
      Canonical SPDI:
      NC_000001.11:161214270:G:GGG
      Gene:
      FCER1G (Varview), NDUFS2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
      HGVS:

      3.

      rs1491360299 has merged into rs10629771 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
        Chromosome:
        1:161214285 (GRCh38)
        1:161184075 (GRCh37)
        Canonical SPDI:
        NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:161214269:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
        Gene:
        FCER1G (Varview), NDUFS2 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
        Clinical significance:
        likely-benign,benign,uncertain-significance
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
        HGVS:
        NC_000001.11:g.161214271GT[7], NC_000001.11:g.161214271GT[9], NC_000001.11:g.161214271GT[10], NC_000001.11:g.161214271GT[11], NC_000001.11:g.161214271GT[12], NC_000001.11:g.161214271GT[13], NC_000001.11:g.161214271GT[14], NC_000001.11:g.161214271GT[16], NC_000001.11:g.161214271GT[17], NC_000001.11:g.161214271GT[18], NC_000001.11:g.161214271GT[19], NC_000001.11:g.161214271GT[20], NC_000001.11:g.161214271GT[21], NC_000001.11:g.161214271GT[22], NC_000001.11:g.161214271GT[23], NC_000001.11:g.161214271GT[24], NC_000001.11:g.161214271GT[25], NC_000001.11:g.161214271GT[26], NC_000001.10:g.161184061GT[7], NC_000001.10:g.161184061GT[9], NC_000001.10:g.161184061GT[10], NC_000001.10:g.161184061GT[11], NC_000001.10:g.161184061GT[12], NC_000001.10:g.161184061GT[13], NC_000001.10:g.161184061GT[14], NC_000001.10:g.161184061GT[16], NC_000001.10:g.161184061GT[17], NC_000001.10:g.161184061GT[18], NC_000001.10:g.161184061GT[19], NC_000001.10:g.161184061GT[20], NC_000001.10:g.161184061GT[21], NC_000001.10:g.161184061GT[22], NC_000001.10:g.161184061GT[23], NC_000001.10:g.161184061GT[24], NC_000001.10:g.161184061GT[25], NC_000001.10:g.161184061GT[26], NG_013352.1:g.19957GT[7], NG_013352.1:g.19957GT[9], NG_013352.1:g.19957GT[10], NG_013352.1:g.19957GT[11], NG_013352.1:g.19957GT[12], NG_013352.1:g.19957GT[13], NG_013352.1:g.19957GT[14], NG_013352.1:g.19957GT[16], NG_013352.1:g.19957GT[17], NG_013352.1:g.19957GT[18], NG_013352.1:g.19957GT[19], NG_013352.1:g.19957GT[20], NG_013352.1:g.19957GT[21], NG_013352.1:g.19957GT[22], NG_013352.1:g.19957GT[23], NG_013352.1:g.19957GT[24], NG_013352.1:g.19957GT[25], NG_013352.1:g.19957GT[26], NM_004550.5:c.*78GT[7], NM_004550.5:c.*78GT[9], NM_004550.5:c.*78GT[10], NM_004550.5:c.*78GT[11], NM_004550.5:c.*78GT[12], NM_004550.5:c.*78GT[13], NM_004550.5:c.*78GT[14], NM_004550.5:c.*78GT[16], NM_004550.5:c.*78GT[17], NM_004550.5:c.*78GT[18], NM_004550.5:c.*78GT[19], NM_004550.5:c.*78GT[20], NM_004550.5:c.*78GT[21], NM_004550.5:c.*78GT[22], NM_004550.5:c.*78GT[23], NM_004550.5:c.*78GT[24], NM_004550.5:c.*78GT[25], NM_004550.5:c.*78GT[26], NM_004550.4:c.*78GT[7], NM_004550.4:c.*78GT[9], NM_004550.4:c.*78GT[10], NM_004550.4:c.*78GT[11], NM_004550.4:c.*78GT[12], NM_004550.4:c.*78GT[13], NM_004550.4:c.*78GT[14], NM_004550.4:c.*78GT[16], NM_004550.4:c.*78GT[17], NM_004550.4:c.*78GT[18], NM_004550.4:c.*78GT[19], NM_004550.4:c.*78GT[20], NM_004550.4:c.*78GT[21], NM_004550.4:c.*78GT[22], NM_004550.4:c.*78GT[23], NM_004550.4:c.*78GT[24], NM_004550.4:c.*78GT[25], NM_004550.4:c.*78GT[26], NM_001166159.2:c.*330GT[7], NM_001166159.2:c.*330GT[9], NM_001166159.2:c.*330GT[10], NM_001166159.2:c.*330GT[11], NM_001166159.2:c.*330GT[12], NM_001166159.2:c.*330GT[13], NM_001166159.2:c.*330GT[14], NM_001166159.2:c.*330GT[16], NM_001166159.2:c.*330GT[17], NM_001166159.2:c.*330GT[18], NM_001166159.2:c.*330GT[19], NM_001166159.2:c.*330GT[20], NM_001166159.2:c.*330GT[21], NM_001166159.2:c.*330GT[22], NM_001166159.2:c.*330GT[23], NM_001166159.2:c.*330GT[24], NM_001166159.2:c.*330GT[25], NM_001166159.2:c.*330GT[26], NM_001166159.1:c.*330GT[7], NM_001166159.1:c.*330GT[9], NM_001166159.1:c.*330GT[10], NM_001166159.1:c.*330GT[11], NM_001166159.1:c.*330GT[12], NM_001166159.1:c.*330GT[13], NM_001166159.1:c.*330GT[14], NM_001166159.1:c.*330GT[16], NM_001166159.1:c.*330GT[17], NM_001166159.1:c.*330GT[18], NM_001166159.1:c.*330GT[19], NM_001166159.1:c.*330GT[20], NM_001166159.1:c.*330GT[21], NM_001166159.1:c.*330GT[22], NM_001166159.1:c.*330GT[23], NM_001166159.1:c.*330GT[24], NM_001166159.1:c.*330GT[25], NM_001166159.1:c.*330GT[26], NM_001377301.1:c.*330GT[7], NM_001377301.1:c.*330GT[9], NM_001377301.1:c.*330GT[10], NM_001377301.1:c.*330GT[11], NM_001377301.1:c.*330GT[12], NM_001377301.1:c.*330GT[13], NM_001377301.1:c.*330GT[14], NM_001377301.1:c.*330GT[16], NM_001377301.1:c.*330GT[17], NM_001377301.1:c.*330GT[18], NM_001377301.1:c.*330GT[19], NM_001377301.1:c.*330GT[20], NM_001377301.1:c.*330GT[21], NM_001377301.1:c.*330GT[22], NM_001377301.1:c.*330GT[23], NM_001377301.1:c.*330GT[24], NM_001377301.1:c.*330GT[25], NM_001377301.1:c.*330GT[26], NM_001377300.1:c.*330GT[7], NM_001377300.1:c.*330GT[9], NM_001377300.1:c.*330GT[10], NM_001377300.1:c.*330GT[11], NM_001377300.1:c.*330GT[12], NM_001377300.1:c.*330GT[13], NM_001377300.1:c.*330GT[14], NM_001377300.1:c.*330GT[16], NM_001377300.1:c.*330GT[17], NM_001377300.1:c.*330GT[18], NM_001377300.1:c.*330GT[19], NM_001377300.1:c.*330GT[20], NM_001377300.1:c.*330GT[21], NM_001377300.1:c.*330GT[22], NM_001377300.1:c.*330GT[23], NM_001377300.1:c.*330GT[24], NM_001377300.1:c.*330GT[25], NM_001377300.1:c.*330GT[26], NM_001377298.1:c.*78GT[7], NM_001377298.1:c.*78GT[9], NM_001377298.1:c.*78GT[10], NM_001377298.1:c.*78GT[11], NM_001377298.1:c.*78GT[12], NM_001377298.1:c.*78GT[13], NM_001377298.1:c.*78GT[14], NM_001377298.1:c.*78GT[16], NM_001377298.1:c.*78GT[17], NM_001377298.1:c.*78GT[18], NM_001377298.1:c.*78GT[19], NM_001377298.1:c.*78GT[20], NM_001377298.1:c.*78GT[21], NM_001377298.1:c.*78GT[22], NM_001377298.1:c.*78GT[23], NM_001377298.1:c.*78GT[24], NM_001377298.1:c.*78GT[25], NM_001377298.1:c.*78GT[26], NR_165188.1:n.1593GT[7], NR_165188.1:n.1593GT[9], NR_165188.1:n.1593GT[10], NR_165188.1:n.1593GT[11], NR_165188.1:n.1593GT[12], NR_165188.1:n.1593GT[13], NR_165188.1:n.1593GT[14], NR_165188.1:n.1593GT[16], NR_165188.1:n.1593GT[17], NR_165188.1:n.1593GT[18], NR_165188.1:n.1593GT[19], NR_165188.1:n.1593GT[20], NR_165188.1:n.1593GT[21], NR_165188.1:n.1593GT[22], NR_165188.1:n.1593GT[23], NR_165188.1:n.1593GT[24], NR_165188.1:n.1593GT[25], NR_165188.1:n.1593GT[26], NM_001377302.1:c.*121GT[7], NM_001377302.1:c.*121GT[9], NM_001377302.1:c.*121GT[10], NM_001377302.1:c.*121GT[11], NM_001377302.1:c.*121GT[12], NM_001377302.1:c.*121GT[13], NM_001377302.1:c.*121GT[14], NM_001377302.1:c.*121GT[16], NM_001377302.1:c.*121GT[17], NM_001377302.1:c.*121GT[18], NM_001377302.1:c.*121GT[19], NM_001377302.1:c.*121GT[20], NM_001377302.1:c.*121GT[21], NM_001377302.1:c.*121GT[22], NM_001377302.1:c.*121GT[23], NM_001377302.1:c.*121GT[24], NM_001377302.1:c.*121GT[25], NM_001377302.1:c.*121GT[26], NM_001377299.1:c.*78GT[7], NM_001377299.1:c.*78GT[9], NM_001377299.1:c.*78GT[10], NM_001377299.1:c.*78GT[11], NM_001377299.1:c.*78GT[12], NM_001377299.1:c.*78GT[13], NM_001377299.1:c.*78GT[14], NM_001377299.1:c.*78GT[16], NM_001377299.1:c.*78GT[17], NM_001377299.1:c.*78GT[18], NM_001377299.1:c.*78GT[19], NM_001377299.1:c.*78GT[20], NM_001377299.1:c.*78GT[21], NM_001377299.1:c.*78GT[22], NM_001377299.1:c.*78GT[23], NM_001377299.1:c.*78GT[24], NM_001377299.1:c.*78GT[25], NM_001377299.1:c.*78GT[26], NM_001410889.1:c.*78GT[7], NM_001410889.1:c.*78GT[9], NM_001410889.1:c.*78GT[10], NM_001410889.1:c.*78GT[11], NM_001410889.1:c.*78GT[12], NM_001410889.1:c.*78GT[13], NM_001410889.1:c.*78GT[14], NM_001410889.1:c.*78GT[16], NM_001410889.1:c.*78GT[17], NM_001410889.1:c.*78GT[18], NM_001410889.1:c.*78GT[19], NM_001410889.1:c.*78GT[20], NM_001410889.1:c.*78GT[21], NM_001410889.1:c.*78GT[22], NM_001410889.1:c.*78GT[23], NM_001410889.1:c.*78GT[24], NM_001410889.1:c.*78GT[25], NM_001410889.1:c.*78GT[26], NG_029043.1:g.3975GT[7], NG_029043.1:g.3975GT[9], NG_029043.1:g.3975GT[10], NG_029043.1:g.3975GT[11], NG_029043.1:g.3975GT[12], NG_029043.1:g.3975GT[13], NG_029043.1:g.3975GT[14], NG_029043.1:g.3975GT[16], NG_029043.1:g.3975GT[17], NG_029043.1:g.3975GT[18], NG_029043.1:g.3975GT[19], NG_029043.1:g.3975GT[20], NG_029043.1:g.3975GT[21], NG_029043.1:g.3975GT[22], NG_029043.1:g.3975GT[23], NG_029043.1:g.3975GT[24], NG_029043.1:g.3975GT[25], NG_029043.1:g.3975GT[26], XM_005245209.3:c.*78GT[7], XM_005245209.3:c.*78GT[9], XM_005245209.3:c.*78GT[10], XM_005245209.3:c.*78GT[11], XM_005245209.3:c.*78GT[12], XM_005245209.3:c.*78GT[13], XM_005245209.3:c.*78GT[14], XM_005245209.3:c.*78GT[16], XM_005245209.3:c.*78GT[17], XM_005245209.3:c.*78GT[18], XM_005245209.3:c.*78GT[19], XM_005245209.3:c.*78GT[20], XM_005245209.3:c.*78GT[21], XM_005245209.3:c.*78GT[22], XM_005245209.3:c.*78GT[23], XM_005245209.3:c.*78GT[24], XM_005245209.3:c.*78GT[25], XM_005245209.3:c.*78GT[26], XM_005245209.2:c.*78GT[7], XM_005245209.2:c.*78GT[9], XM_005245209.2:c.*78GT[10], XM_005245209.2:c.*78GT[11], XM_005245209.2:c.*78GT[12], XM_005245209.2:c.*78GT[13], XM_005245209.2:c.*78GT[14], XM_005245209.2:c.*78GT[16], XM_005245209.2:c.*78GT[17], XM_005245209.2:c.*78GT[18], XM_005245209.2:c.*78GT[19], XM_005245209.2:c.*78GT[20], XM_005245209.2:c.*78GT[21], XM_005245209.2:c.*78GT[22], XM_005245209.2:c.*78GT[23], XM_005245209.2:c.*78GT[24], XM_005245209.2:c.*78GT[25], XM_005245209.2:c.*78GT[26], XM_005245209.1:c.*78GT[7], XM_005245209.1:c.*78GT[9], XM_005245209.1:c.*78GT[10], XM_005245209.1:c.*78GT[11], XM_005245209.1:c.*78GT[12], XM_005245209.1:c.*78GT[13], XM_005245209.1:c.*78GT[14], XM_005245209.1:c.*78GT[16], XM_005245209.1:c.*78GT[17], XM_005245209.1:c.*78GT[18], XM_005245209.1:c.*78GT[19], XM_005245209.1:c.*78GT[20], XM_005245209.1:c.*78GT[21], XM_005245209.1:c.*78GT[22], XM_005245209.1:c.*78GT[23], XM_005245209.1:c.*78GT[24], XM_005245209.1:c.*78GT[25], XM_005245209.1:c.*78GT[26], XM_047421267.1:c.*78GT[7], XM_047421267.1:c.*78GT[9], XM_047421267.1:c.*78GT[10], XM_047421267.1:c.*78GT[11], XM_047421267.1:c.*78GT[12], XM_047421267.1:c.*78GT[13], XM_047421267.1:c.*78GT[14], XM_047421267.1:c.*78GT[16], XM_047421267.1:c.*78GT[17], XM_047421267.1:c.*78GT[18], XM_047421267.1:c.*78GT[19], XM_047421267.1:c.*78GT[20], XM_047421267.1:c.*78GT[21], XM_047421267.1:c.*78GT[22], XM_047421267.1:c.*78GT[23], XM_047421267.1:c.*78GT[24], XM_047421267.1:c.*78GT[25], XM_047421267.1:c.*78GT[26]

        4.

        rs1491306537 has merged into rs886045468 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AT>-,ATAT [Show Flanks]
          Chromosome:
          1:161214301 (GRCh38)
          1:161184091 (GRCh37)
          Canonical SPDI:
          NC_000001.11:161214299:TAT:T,NC_000001.11:161214299:TAT:TATAT
          Gene:
          FCER1G (Varview), NDUFS2 (Varview)
          Functional Consequence:
          2KB_upstream_variant,non_coding_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATAT=0./0 (ALFA)
          HGVS:
          NC_000001.11:g.161214301_161214302del, NC_000001.11:g.161214301_161214302dup, NC_000001.10:g.161184091_161184092del, NC_000001.10:g.161184091_161184092dup, NG_013352.1:g.19987_19988del, NG_013352.1:g.19987_19988dup, NM_004550.5:c.*108_*109del, NM_004550.5:c.*108_*109dup, NM_004550.4:c.*108_*109del, NM_004550.4:c.*108_*109dup, NM_001166159.2:c.*360_*361del, NM_001166159.2:c.*360_*361dup, NM_001166159.1:c.*360_*361del, NM_001166159.1:c.*360_*361dup, NM_001377301.1:c.*360_*361del, NM_001377301.1:c.*360_*361dup, NM_001377300.1:c.*360_*361del, NM_001377300.1:c.*360_*361dup, NM_001377298.1:c.*108_*109del, NM_001377298.1:c.*108_*109dup, NR_165188.1:n.1623_1624del, NR_165188.1:n.1623_1624dup, NM_001377302.1:c.*151_*152del, NM_001377302.1:c.*151_*152dup, NM_001377299.1:c.*108_*109del, NM_001377299.1:c.*108_*109dup, NM_001410889.1:c.*108_*109del, NM_001410889.1:c.*108_*109dup, NG_029043.1:g.4005_4006del, NG_029043.1:g.4005_4006dup, XM_005245209.3:c.*108_*109del, XM_005245209.3:c.*108_*109dup, XM_005245209.2:c.*108_*109del, XM_005245209.2:c.*108_*109dup, XM_005245209.1:c.*108_*109del, XM_005245209.1:c.*108_*109dup, XM_047421267.1:c.*108_*109del, XM_047421267.1:c.*108_*109dup

          5.

          rs1491104152 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AG>-,AGAG [Show Flanks]
            Chromosome:
            1:161195965 (GRCh38)
            1:161165755 (GRCh37)
            Canonical SPDI:
            NC_000001.11:161195962:AGAG:AG,NC_000001.11:161195962:AGAG:AGAGAG
            Gene:
            NDUFS2 (Varview), ADAMTS4 (Varview)
            Functional Consequence:
            intron_variant,upstream_transcript_variant,2KB_upstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AGAGAG=0./0 (ALFA)
            HGVS:

            6.

            rs1490722906 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->A [Show Flanks]
              Chromosome:
              1:161201780 (GRCh38)
              1:161171571 (GRCh37)
              Canonical SPDI:
              NC_000001.11:161201780:AA:AAA
              Gene:
              NDUFS2 (Varview)
              Functional Consequence:
              intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAA=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:

              7.

              rs1490718379 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                1:161195677 (GRCh38)
                1:161165467 (GRCh37)
                Canonical SPDI:
                NC_000001.11:161195676:C:A
                Gene:
                NDUFS2 (Varview), ADAMTS4 (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency
                MAF:
                A=0.000009/2 (GnomAD_exomes)
                HGVS:

                8.

                rs1490678024 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  1:161199066 (GRCh38)
                  1:161168856 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:161199065:C:T
                  Gene:
                  NDUFS2 (Varview), ADAMTS4 (Varview)
                  Functional Consequence:
                  intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000043/6 (GnomAD)
                  T=0.000057/15 (TOPMED)
                  HGVS:

                  9.

                  rs1490468762 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:161201319 (GRCh38)
                    1:161171109 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:161201318:C:T
                    Gene:
                    NDUFS2 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1489907379 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      1:161201328 (GRCh38)
                      1:161171118 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:161201327:C:A
                      Gene:
                      NDUFS2 (Varview)
                      Functional Consequence:
                      intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1489863903 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:161200321 (GRCh38)
                        1:161170111 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:161200320:G:A
                        Gene:
                        NDUFS2 (Varview), ADAMTS4 (Varview)
                        Functional Consequence:
                        intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000014/2 (GnomAD)
                        A=0.000015/4 (TOPMED)
                        HGVS:

                        12.

                        rs1489840446 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:161208236 (GRCh38)
                          1:161178026 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:161208235:G:A
                          Gene:
                          NDUFS2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1489745699 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:161202031 (GRCh38)
                            1:161171821 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:161202030:G:C
                            Gene:
                            NDUFS2 (Varview)
                            Functional Consequence:
                            intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.0002/1 (1000Genomes)
                            HGVS:

                            14.

                            rs1489696041 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:161204788 (GRCh38)
                              1:161174578 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:161204787:G:A
                              Gene:
                              NDUFS2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000023/6 (TOPMED)
                              A=0.000029/4 (GnomAD)
                              HGVS:

                              15.

                              rs1489688201 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:161196904 (GRCh38)
                                1:161166694 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:161196903:G:A
                                Gene:
                                NDUFS2 (Varview), ADAMTS4 (Varview)
                                Functional Consequence:
                                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                HGVS:

                                16.

                                rs1489570086 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  AG>- [Show Flanks]
                                  Chromosome:
                                  1:161212519 (GRCh38)
                                  1:161182309 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:161212518:AG:
                                  Gene:
                                  NDUFS2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  HGVS:

                                  17.

                                  rs1488961543 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    1:161210631 (GRCh38)
                                    1:161180421 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:161210630:C:T
                                    Gene:
                                    NDUFS2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1488859393 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      1:161199614 (GRCh38)
                                      1:161169404 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:161199613:C:A
                                      Gene:
                                      NDUFS2 (Varview), ADAMTS4 (Varview)
                                      Functional Consequence:
                                      intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1488825523 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:161207824 (GRCh38)
                                        1:161177614 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:161207823:T:C
                                        Gene:
                                        NDUFS2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1488778030 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:161198825 (GRCh38)
                                          1:161168615 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:161198824:G:A
                                          Gene:
                                          NDUFS2 (Varview), ADAMTS4 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_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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