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Items: 1 to 20 of 470

1.

rs1489563772 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    2:37243926 (GRCh38)
    2:37471069 (GRCh37)
    Canonical SPDI:
    NC_000002.12:37243925:A:G
    Gene:
    NDUFAF7 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000084/1 (ALFA)
    G=0.000016/4 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.37243926A>G, NC_000002.11:g.37471069A>G, NG_053078.1:g.17296A>G, NM_144736.5:c.745A>G, NM_144736.4:c.745A>G, NR_146409.3:n.793A>G, NR_146409.2:n.793A>G, NR_146409.1:n.820A>G, NR_146406.2:n.1426A>G, NR_146406.1:n.1453A>G, NR_146408.2:n.793A>G, NR_146408.1:n.820A>G, NR_146403.2:n.1426A>G, NR_146403.1:n.1453A>G, NR_146402.2:n.793A>G, NR_146402.1:n.820A>G, NR_146407.2:n.734A>G, NR_146407.1:n.761A>G, NM_001350024.2:c.745A>G, NM_001350024.1:c.745A>G, NR_146401.2:n.639A>G, NR_146401.1:n.666A>G, NR_146405.2:n.580A>G, NR_146405.1:n.607A>G, NM_001350025.2:c.664A>G, NM_001350025.1:c.664A>G, NM_001350027.2:c.532A>G, NM_001350027.1:c.532A>G, NR_146404.2:n.558A>G, NR_146404.1:n.585A>G, NR_146410.2:n.548A>G, NR_146410.1:n.575A>G, NM_001083946.2:c.451A>G, NM_001083946.1:c.451A>G, NM_018607.5:c.591A>G, NM_018607.4:c.-282A>G, XM_005264410.3:c.619A>G, XM_005264410.2:c.619A>G, XM_005264410.1:c.619A>G, NM_018607.3:c.-282A>G, XM_024452977.2:c.406A>G, XM_024452977.1:c.406A>G, NM_018607.2:c.-282A>G, XR_007077548.1:n.580A>G, XR_007077549.1:n.580A>G, NM_018607.1:c.-282A>G, NP_653337.1:p.Arg249Gly, NP_001336953.1:p.Arg249Gly, NP_001336954.1:p.Arg222Gly, NP_001336956.1:p.Arg178Gly, NP_001077415.1:p.Arg151Gly, XP_005264467.1:p.Arg207Gly, XP_024308745.1:p.Arg136Gly

    2.

    rs1487281473 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      2:37246184 (GRCh38)
      2:37473327 (GRCh37)
      Canonical SPDI:
      NC_000002.12:37246183:G:A
      Gene:
      NDUFAF7 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.37246184G>A, NC_000002.11:g.37473327G>A, NG_053078.1:g.19554G>A, NM_144736.5:c.925G>A, NM_144736.4:c.925G>A, NR_146409.3:n.973G>A, NR_146409.2:n.973G>A, NR_146409.1:n.1000G>A, NR_146406.2:n.1606G>A, NR_146406.1:n.1633G>A, NR_146408.2:n.973G>A, NR_146408.1:n.1000G>A, NR_146403.2:n.1606G>A, NR_146403.1:n.1633G>A, NR_146402.2:n.973G>A, NR_146402.1:n.1000G>A, NR_146407.2:n.914G>A, NR_146407.1:n.941G>A, NM_001350024.2:c.925G>A, NM_001350024.1:c.925G>A, NR_146401.2:n.819G>A, NR_146401.1:n.846G>A, NR_146405.2:n.760G>A, NR_146405.1:n.787G>A, NM_001350025.2:c.844G>A, NM_001350025.1:c.844G>A, NM_001350027.2:c.712G>A, NM_001350027.1:c.712G>A, NR_146404.2:n.738G>A, NR_146404.1:n.765G>A, NR_146410.2:n.728G>A, NR_146410.1:n.755G>A, NM_001083946.2:c.631G>A, NM_001083946.1:c.631G>A, NM_018607.5:c.*180G>A, NM_018607.4:c.-102G>A, XM_005264410.3:c.799G>A, XM_005264410.2:c.799G>A, XM_005264410.1:c.799G>A, NM_018607.3:c.-102G>A, XM_024452977.2:c.586G>A, XM_024452977.1:c.586G>A, NM_018607.2:c.-102G>A, XR_007077548.1:n.760G>A, XR_007077549.1:n.760G>A, NM_018607.1:c.-102G>A, NP_653337.1:p.Asp309Asn, NP_001336953.1:p.Asp309Asn, NP_001336954.1:p.Asp282Asn, NP_001336956.1:p.Asp238Asn, NP_001077415.1:p.Asp211Asn, XP_005264467.1:p.Asp267Asn, XP_024308745.1:p.Asp196Asn

      3.

      rs1485650267 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        2:37243883 (GRCh38)
        2:37471026 (GRCh37)
        Canonical SPDI:
        NC_000002.12:37243882:A:G
        Gene:
        NDUFAF7 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000021/3 (GnomAD)
        HGVS:
        NC_000002.12:g.37243883A>G, NC_000002.11:g.37471026A>G, NG_053078.1:g.17253A>G, NM_144736.5:c.702A>G, NM_144736.4:c.702A>G, NR_146409.3:n.750A>G, NR_146409.2:n.750A>G, NR_146409.1:n.777A>G, NR_146406.2:n.1383A>G, NR_146406.1:n.1410A>G, NR_146408.2:n.750A>G, NR_146408.1:n.777A>G, NR_146403.2:n.1383A>G, NR_146403.1:n.1410A>G, NR_146402.2:n.750A>G, NR_146402.1:n.777A>G, NR_146407.2:n.691A>G, NR_146407.1:n.718A>G, NM_001350024.2:c.702A>G, NM_001350024.1:c.702A>G, NR_146401.2:n.596A>G, NR_146401.1:n.623A>G, NR_146405.2:n.537A>G, NR_146405.1:n.564A>G, NM_001350025.2:c.621A>G, NM_001350025.1:c.621A>G, NM_001350027.2:c.489A>G, NM_001350027.1:c.489A>G, NR_146404.2:n.515A>G, NR_146404.1:n.542A>G, NR_146410.2:n.505A>G, NR_146410.1:n.532A>G, NM_001083946.2:c.408A>G, NM_001083946.1:c.408A>G, NM_018607.5:c.548A>G, NM_018607.4:c.-325A>G, XM_005264410.3:c.576A>G, XM_005264410.2:c.576A>G, XM_005264410.1:c.576A>G, NM_018607.3:c.-325A>G, XM_024452977.2:c.363A>G, XM_024452977.1:c.363A>G, NM_018607.2:c.-325A>G, XR_007077548.1:n.537A>G, XR_007077549.1:n.537A>G, NM_018607.1:c.-325A>G

        4.

        rs1482519624 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GTA>- [Show Flanks]
          Chromosome:
          2:37241721 (GRCh38)
          2:37468864 (GRCh37)
          Canonical SPDI:
          NC_000002.12:37241720:GTA:
          Gene:
          NDUFAF7 (Varview)
          Functional Consequence:
          inframe_deletion,non_coding_transcript_variant,coding_sequence_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000007/1 (GnomAD)
          HGVS:
          NC_000002.12:g.37241721_37241723del, NC_000002.11:g.37468864_37468866del, NG_053078.1:g.15091_15093del, NM_144736.5:c.552_554del, NM_144736.4:c.552_554del, NR_146409.3:n.600_602del, NR_146409.2:n.600_602del, NR_146409.1:n.627_629del, NR_146406.2:n.600_602del, NR_146406.1:n.627_629del, NR_146408.2:n.600_602del, NR_146408.1:n.627_629del, NR_146403.2:n.600_602del, NR_146403.1:n.627_629del, NR_146402.2:n.600_602del, NR_146402.1:n.627_629del, NR_146407.2:n.600_602del, NR_146407.1:n.627_629del, NM_001350024.2:c.552_554del, NM_001350024.1:c.552_554del, NM_001350025.2:c.471_473del, NM_001350025.1:c.471_473del, XM_005264410.3:c.426_428del, XM_005264410.2:c.426_428del, XM_005264410.1:c.426_428del, NP_653337.1:p.Tyr185del, NP_001336953.1:p.Tyr185del, NP_001336954.1:p.Tyr158del, XP_005264467.1:p.Tyr143del

          5.

          rs1479139998 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            2:37241737 (GRCh38)
            2:37468880 (GRCh37)
            Canonical SPDI:
            NC_000002.12:37241736:A:C
            Gene:
            NDUFAF7 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
            HGVS:

            6.

            rs1477636450 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              2:37248306 (GRCh38)
              2:37475449 (GRCh37)
              Canonical SPDI:
              NC_000002.12:37248305:T:G
              Gene:
              NDUFAF7 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0.000111/1 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.37248306T>G, NC_000002.11:g.37475449T>G, NG_053078.1:g.21676T>G, NM_144736.5:c.1282T>G, NM_144736.4:c.1282T>G, NR_146409.3:n.1330T>G, NR_146409.2:n.1330T>G, NR_146409.1:n.1357T>G, NR_146406.2:n.1963T>G, NR_146406.1:n.1990T>G, NR_146408.2:n.1330T>G, NR_146408.1:n.1357T>G, NR_146403.2:n.1963T>G, NR_146403.1:n.1990T>G, NR_146402.2:n.1330T>G, NR_146402.1:n.1357T>G, NR_146407.2:n.1271T>G, NR_146407.1:n.1298T>G, NM_001350024.2:c.1159T>G, NM_001350024.1:c.1159T>G, NR_146401.2:n.1176T>G, NR_146401.1:n.1203T>G, NR_146405.2:n.1117T>G, NR_146405.1:n.1144T>G, NM_001350025.2:c.1078T>G, NM_001350025.1:c.1078T>G, NM_001350027.2:c.1069T>G, NM_001350027.1:c.1069T>G, NR_146404.2:n.1095T>G, NR_146404.1:n.1122T>G, NR_146410.2:n.1085T>G, NR_146410.1:n.1112T>G, NM_001083946.2:c.988T>G, NM_001083946.1:c.988T>G, NM_018607.5:c.*537T>G, NM_018607.4:c.256T>G, XM_005264410.3:c.1156T>G, XM_005264410.2:c.1156T>G, XM_005264410.1:c.1156T>G, NM_018607.3:c.256T>G, XM_024452977.2:c.943T>G, XM_024452977.1:c.943T>G, NM_018607.2:c.256T>G, XR_007077548.1:n.1117T>G, XR_007077549.1:n.1117T>G, NM_018607.1:c.256T>G, NP_653337.1:p.Phe428Val, NP_001336953.1:p.Phe387Val, NP_001336954.1:p.Phe360Val, NP_001336956.1:p.Phe357Val, NP_001077415.1:p.Phe330Val, XP_005264467.1:p.Phe386Val, XP_024308745.1:p.Phe315Val

              7.

              rs1476239019 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                2:37242666 (GRCh38)
                2:37469809 (GRCh37)
                Canonical SPDI:
                NC_000002.12:37242665:T:G
                Gene:
                NDUFAF7 (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000002.12:g.37242666T>G, NC_000002.11:g.37469809T>G, NG_053078.1:g.16036T>G, NM_144736.5:c.654T>G, NM_144736.4:c.654T>G, NR_146409.3:n.702T>G, NR_146409.2:n.702T>G, NR_146409.1:n.729T>G, NR_146406.2:n.1335T>G, NR_146406.1:n.1362T>G, NR_146408.2:n.702T>G, NR_146408.1:n.729T>G, NR_146403.2:n.1335T>G, NR_146403.1:n.1362T>G, NR_146402.2:n.702T>G, NR_146402.1:n.729T>G, NM_001350024.2:c.654T>G, NM_001350024.1:c.654T>G, NR_146401.2:n.548T>G, NR_146401.1:n.575T>G, NM_001350025.2:c.573T>G, NM_001350025.1:c.573T>G, NR_146404.2:n.467T>G, NR_146404.1:n.494T>G, NM_018607.5:c.500T>G, NM_018607.4:c.-373T>G, XM_005264410.3:c.528T>G, XM_005264410.2:c.528T>G, XM_005264410.1:c.528T>G, NM_018607.3:c.-373T>G, NM_018607.2:c.-373T>G, NM_018607.1:c.-373T>G, NP_653337.1:p.Phe218Leu, NP_001336953.1:p.Phe218Leu, NP_001336954.1:p.Phe191Leu, XP_005264467.1:p.Phe176Leu

                8.

                rs1475775506 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:37237850 (GRCh38)
                  2:37464993 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:37237849:G:A
                  Gene:
                  NDUFAF7 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000002.12:g.37237850G>A, NC_000002.11:g.37464993G>A, NG_053078.1:g.11220G>A, NM_144736.5:c.391G>A, NM_144736.4:c.391G>A, NR_146409.3:n.439G>A, NR_146409.2:n.439G>A, NR_146409.1:n.466G>A, NR_146406.2:n.439G>A, NR_146406.1:n.466G>A, NR_146408.2:n.439G>A, NR_146408.1:n.466G>A, NR_146403.2:n.439G>A, NR_146403.1:n.466G>A, NR_146402.2:n.439G>A, NR_146402.1:n.466G>A, NR_146407.2:n.439G>A, NR_146407.1:n.466G>A, NM_001350024.2:c.391G>A, NM_001350024.1:c.391G>A, NR_146401.2:n.439G>A, NR_146401.1:n.466G>A, NR_146405.2:n.439G>A, NR_146405.1:n.466G>A, NM_001350025.2:c.310G>A, NM_001350025.1:c.310G>A, NM_001350027.2:c.391G>A, NM_001350027.1:c.391G>A, NR_146404.2:n.358G>A, NR_146404.1:n.385G>A, NM_001083946.2:c.310G>A, NM_001083946.1:c.310G>A, NM_018607.5:c.391G>A, XM_005264410.3:c.265G>A, XM_005264410.2:c.265G>A, XM_005264410.1:c.265G>A, XM_024452977.2:c.265G>A, XM_024452977.1:c.265G>A, XR_007077548.1:n.439G>A, XR_007077549.1:n.439G>A, NP_653337.1:p.Val131Met, NP_001336953.1:p.Val131Met, NP_001336954.1:p.Val104Met, NP_001336956.1:p.Val131Met, NP_001077415.1:p.Val104Met, XP_005264467.1:p.Val89Met, XP_024308745.1:p.Val89Met

                  9.

                  rs1475356544 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:37237803 (GRCh38)
                    2:37464946 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:37237802:G:A
                    Gene:
                    NDUFAF7 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_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:
                    NC_000002.12:g.37237803G>A, NC_000002.11:g.37464946G>A, NG_053078.1:g.11173G>A, NM_144736.5:c.344G>A, NM_144736.4:c.344G>A, NR_146409.3:n.392G>A, NR_146409.2:n.392G>A, NR_146409.1:n.419G>A, NR_146406.2:n.392G>A, NR_146406.1:n.419G>A, NR_146408.2:n.392G>A, NR_146408.1:n.419G>A, NR_146403.2:n.392G>A, NR_146403.1:n.419G>A, NR_146402.2:n.392G>A, NR_146402.1:n.419G>A, NR_146407.2:n.392G>A, NR_146407.1:n.419G>A, NM_001350024.2:c.344G>A, NM_001350024.1:c.344G>A, NR_146401.2:n.392G>A, NR_146401.1:n.419G>A, NR_146405.2:n.392G>A, NR_146405.1:n.419G>A, NM_001350025.2:c.263G>A, NM_001350025.1:c.263G>A, NM_001350027.2:c.344G>A, NM_001350027.1:c.344G>A, NR_146404.2:n.311G>A, NR_146404.1:n.338G>A, NR_146410.2:n.392G>A, NR_146410.1:n.419G>A, NM_001083946.2:c.263G>A, NM_001083946.1:c.263G>A, NM_018607.5:c.344G>A, XM_005264410.3:c.218G>A, XM_005264410.2:c.218G>A, XM_005264410.1:c.218G>A, XM_024452977.2:c.218G>A, XM_024452977.1:c.218G>A, XR_007077548.1:n.392G>A, XR_007077549.1:n.392G>A, NP_653337.1:p.Ser115Asn, NP_001336953.1:p.Ser115Asn, NP_001336954.1:p.Ser88Asn, NP_001336956.1:p.Ser115Asn, NP_001077415.1:p.Ser88Asn, XP_005264467.1:p.Ser73Asn, XP_024308745.1:p.Ser73Asn

                    10.

                    rs1474399604 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:37241640 (GRCh38)
                      2:37468783 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:37241639:A:G
                      Gene:
                      NDUFAF7 (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs1470977699 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        2:37232233 (GRCh38)
                        2:37459377 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:37232233:T:TT
                        Gene:
                        CEBPZ (Varview), NDUFAF7 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TT=0./0 (ALFA)
                        T=0.000008/2 (GnomAD_exomes)
                        T=0.000011/3 (TOPMED)
                        T=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000002.12:g.37232234dup, NC_000002.11:g.37459377dup, NG_053078.1:g.5604dup, NM_144736.5:c.184dup, NM_144736.4:c.184dup, NR_146409.3:n.232dup, NR_146409.2:n.232dup, NR_146409.1:n.259dup, NR_146406.2:n.232dup, NR_146406.1:n.259dup, NR_146408.2:n.232dup, NR_146408.1:n.259dup, NR_146403.2:n.232dup, NR_146403.1:n.259dup, NR_146402.2:n.232dup, NR_146402.1:n.259dup, NR_146407.2:n.232dup, NR_146407.1:n.259dup, NM_001350024.2:c.184dup, NM_001350024.1:c.184dup, NR_146401.2:n.232dup, NR_146401.1:n.259dup, NR_146405.2:n.232dup, NR_146405.1:n.259dup, NM_001350025.2:c.184dup, NM_001350025.1:c.184dup, NM_001350027.2:c.184dup, NM_001350027.1:c.184dup, NR_146404.2:n.232dup, NR_146404.1:n.259dup, NR_146410.2:n.232dup, NR_146410.1:n.259dup, NM_001083946.2:c.184dup, NM_001083946.1:c.184dup, NG_050962.1:g.4364dup, NG_082516.1:g.1394dup, NM_018607.5:c.184dup, XM_005264410.3:c.58dup, XM_005264410.2:c.58dup, XM_005264410.1:c.58dup, XM_024452977.2:c.58dup, XM_024452977.1:c.58dup, XR_007077548.1:n.232dup, XR_007077549.1:n.232dup, NP_653337.1:p.Tyr62fs, NP_001336953.1:p.Tyr62fs, NP_001336954.1:p.Tyr62fs, NP_001336956.1:p.Tyr62fs, NP_001077415.1:p.Tyr62fs, XP_005264467.1:p.Tyr20fs, XP_024308745.1:p.Tyr20fs

                        12.

                        rs1466188407 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          2:37241665 (GRCh38)
                          2:37468808 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:37241664:G:C
                          Gene:
                          NDUFAF7 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:

                          13.

                          rs1465247138 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:37248267 (GRCh38)
                            2:37475410 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:37248266:G:A
                            Gene:
                            NDUFAF7 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.37248267G>A, NC_000002.11:g.37475410G>A, NG_053078.1:g.21637G>A, NM_144736.5:c.1243G>A, NM_144736.4:c.1243G>A, NR_146409.3:n.1291G>A, NR_146409.2:n.1291G>A, NR_146409.1:n.1318G>A, NR_146406.2:n.1924G>A, NR_146406.1:n.1951G>A, NR_146408.2:n.1291G>A, NR_146408.1:n.1318G>A, NR_146403.2:n.1924G>A, NR_146403.1:n.1951G>A, NR_146402.2:n.1291G>A, NR_146402.1:n.1318G>A, NR_146407.2:n.1232G>A, NR_146407.1:n.1259G>A, NM_001350024.2:c.1120G>A, NM_001350024.1:c.1120G>A, NR_146401.2:n.1137G>A, NR_146401.1:n.1164G>A, NR_146405.2:n.1078G>A, NR_146405.1:n.1105G>A, NM_001350025.2:c.1039G>A, NM_001350025.1:c.1039G>A, NM_001350027.2:c.1030G>A, NM_001350027.1:c.1030G>A, NR_146404.2:n.1056G>A, NR_146404.1:n.1083G>A, NR_146410.2:n.1046G>A, NR_146410.1:n.1073G>A, NM_001083946.2:c.949G>A, NM_001083946.1:c.949G>A, NM_018607.5:c.*498G>A, NM_018607.4:c.217G>A, XM_005264410.3:c.1117G>A, XM_005264410.2:c.1117G>A, XM_005264410.1:c.1117G>A, NM_018607.3:c.217G>A, XM_024452977.2:c.904G>A, XM_024452977.1:c.904G>A, NM_018607.2:c.217G>A, XR_007077548.1:n.1078G>A, XR_007077549.1:n.1078G>A, NM_018607.1:c.217G>A, NP_653337.1:p.Gly415Ser, NP_001336953.1:p.Gly374Ser, NP_001336954.1:p.Gly347Ser, NP_001336956.1:p.Gly344Ser, NP_001077415.1:p.Gly317Ser, XP_005264467.1:p.Gly373Ser, XP_024308745.1:p.Gly302Ser

                            14.

                            rs1458809288 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:37242664 (GRCh38)
                              2:37469807 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:37242663:T:C
                              Gene:
                              NDUFAF7 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              C=0.000142/2 (TOMMO)
                              HGVS:
                              NC_000002.12:g.37242664T>C, NC_000002.11:g.37469807T>C, NG_053078.1:g.16034T>C, NM_144736.5:c.652T>C, NM_144736.4:c.652T>C, NR_146409.3:n.700T>C, NR_146409.2:n.700T>C, NR_146409.1:n.727T>C, NR_146406.2:n.1333T>C, NR_146406.1:n.1360T>C, NR_146408.2:n.700T>C, NR_146408.1:n.727T>C, NR_146403.2:n.1333T>C, NR_146403.1:n.1360T>C, NR_146402.2:n.700T>C, NR_146402.1:n.727T>C, NM_001350024.2:c.652T>C, NM_001350024.1:c.652T>C, NR_146401.2:n.546T>C, NR_146401.1:n.573T>C, NM_001350025.2:c.571T>C, NM_001350025.1:c.571T>C, NR_146404.2:n.465T>C, NR_146404.1:n.492T>C, NM_018607.5:c.498T>C, NM_018607.4:c.-375T>C, XM_005264410.3:c.526T>C, XM_005264410.2:c.526T>C, XM_005264410.1:c.526T>C, NM_018607.3:c.-375T>C, NM_018607.2:c.-375T>C, NM_018607.1:c.-375T>C, NP_653337.1:p.Phe218Leu, NP_001336953.1:p.Phe218Leu, NP_001336954.1:p.Phe191Leu, XP_005264467.1:p.Phe176Leu

                              15.

                              rs1458096164 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                2:37246052 (GRCh38)
                                2:37473195 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:37246051:C:G
                                Gene:
                                NDUFAF7 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.37246052C>G, NC_000002.11:g.37473195C>G, NG_053078.1:g.19422C>G, NM_144736.5:c.793C>G, NM_144736.4:c.793C>G, NR_146409.3:n.841C>G, NR_146409.2:n.841C>G, NR_146409.1:n.868C>G, NR_146406.2:n.1474C>G, NR_146406.1:n.1501C>G, NR_146408.2:n.841C>G, NR_146408.1:n.868C>G, NR_146403.2:n.1474C>G, NR_146403.1:n.1501C>G, NR_146402.2:n.841C>G, NR_146402.1:n.868C>G, NR_146407.2:n.782C>G, NR_146407.1:n.809C>G, NM_001350024.2:c.793C>G, NM_001350024.1:c.793C>G, NR_146401.2:n.687C>G, NR_146401.1:n.714C>G, NR_146405.2:n.628C>G, NR_146405.1:n.655C>G, NM_001350025.2:c.712C>G, NM_001350025.1:c.712C>G, NM_001350027.2:c.580C>G, NM_001350027.1:c.580C>G, NR_146404.2:n.606C>G, NR_146404.1:n.633C>G, NR_146410.2:n.596C>G, NR_146410.1:n.623C>G, NM_001083946.2:c.499C>G, NM_001083946.1:c.499C>G, NM_018607.5:c.*48C>G, NM_018607.4:c.-234C>G, XM_005264410.3:c.667C>G, XM_005264410.2:c.667C>G, XM_005264410.1:c.667C>G, NM_018607.3:c.-234C>G, XM_024452977.2:c.454C>G, XM_024452977.1:c.454C>G, NM_018607.2:c.-234C>G, XR_007077548.1:n.628C>G, XR_007077549.1:n.628C>G, NM_018607.1:c.-234C>G, NP_653337.1:p.His265Asp, NP_001336953.1:p.His265Asp, NP_001336954.1:p.His238Asp, NP_001336956.1:p.His194Asp, NP_001077415.1:p.His167Asp, XP_005264467.1:p.His223Asp, XP_024308745.1:p.His152Asp

                                16.

                                rs1456623177 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:37248188 (GRCh38)
                                  2:37475331 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:37248187:A:G
                                  Gene:
                                  NDUFAF7 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000111/1 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.37248188A>G, NC_000002.11:g.37475331A>G, NG_053078.1:g.21558A>G, NM_144736.5:c.1164A>G, NM_144736.4:c.1164A>G, NR_146409.3:n.1212A>G, NR_146409.2:n.1212A>G, NR_146409.1:n.1239A>G, NR_146406.2:n.1845A>G, NR_146406.1:n.1872A>G, NR_146408.2:n.1212A>G, NR_146408.1:n.1239A>G, NR_146403.2:n.1845A>G, NR_146403.1:n.1872A>G, NR_146402.2:n.1212A>G, NR_146402.1:n.1239A>G, NR_146407.2:n.1153A>G, NR_146407.1:n.1180A>G, NR_146401.2:n.1058A>G, NR_146401.1:n.1085A>G, NR_146405.2:n.999A>G, NR_146405.1:n.1026A>G, NM_001350027.2:c.951A>G, NM_001350027.1:c.951A>G, NR_146404.2:n.977A>G, NR_146404.1:n.1004A>G, NR_146410.2:n.967A>G, NR_146410.1:n.994A>G, NM_001083946.2:c.870A>G, NM_001083946.1:c.870A>G, NM_018607.5:c.*419A>G, NM_018607.4:c.138A>G, XM_005264410.3:c.1038A>G, XM_005264410.2:c.1038A>G, XM_005264410.1:c.1038A>G, NM_018607.3:c.138A>G, XM_024452977.2:c.825A>G, XM_024452977.1:c.825A>G, NM_018607.2:c.138A>G, XR_007077548.1:n.999A>G, XR_007077549.1:n.999A>G, NM_018607.1:c.138A>G

                                  17.

                                  rs1453367750 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:37241781 (GRCh38)
                                    2:37468924 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:37241780:T:C
                                    Gene:
                                    NDUFAF7 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1449217623 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      2:37247498 (GRCh38)
                                      2:37474641 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:37247497:G:A
                                      Gene:
                                      NDUFAF7 (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000002.12:g.37247498G>A, NC_000002.11:g.37474641G>A, NG_053078.1:g.20868G>A, NM_144736.5:c.979G>A, NM_144736.4:c.979G>A, NR_146409.3:n.1027G>A, NR_146409.2:n.1027G>A, NR_146409.1:n.1054G>A, NR_146406.2:n.1660G>A, NR_146406.1:n.1687G>A, NR_146408.2:n.1027G>A, NR_146408.1:n.1054G>A, NR_146403.2:n.1660G>A, NR_146403.1:n.1687G>A, NR_146402.2:n.1027G>A, NR_146402.1:n.1054G>A, NR_146407.2:n.968G>A, NR_146407.1:n.995G>A, NM_001350024.2:c.979G>A, NM_001350024.1:c.979G>A, NR_146401.2:n.873G>A, NR_146401.1:n.900G>A, NR_146405.2:n.814G>A, NR_146405.1:n.841G>A, NM_001350025.2:c.898G>A, NM_001350025.1:c.898G>A, NM_001350027.2:c.766G>A, NM_001350027.1:c.766G>A, NR_146404.2:n.792G>A, NR_146404.1:n.819G>A, NR_146410.2:n.782G>A, NR_146410.1:n.809G>A, NM_001083946.2:c.685G>A, NM_001083946.1:c.685G>A, NM_018607.5:c.*234G>A, NM_018607.4:c.-48G>A, XM_005264410.3:c.853G>A, XM_005264410.2:c.853G>A, XM_005264410.1:c.853G>A, NM_018607.3:c.-48G>A, XM_024452977.2:c.640G>A, XM_024452977.1:c.640G>A, NM_018607.2:c.-48G>A, XR_007077548.1:n.814G>A, XR_007077549.1:n.814G>A, NM_018607.1:c.-48G>A, NP_653337.1:p.Gly327Arg, NP_001336953.1:p.Gly327Arg, NP_001336954.1:p.Gly300Arg, NP_001336956.1:p.Gly256Arg, NP_001077415.1:p.Gly229Arg, XP_005264467.1:p.Gly285Arg, XP_024308745.1:p.Gly214Arg

                                      19.

                                      rs1447636328 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        2:37246193 (GRCh38)
                                        2:37473336 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:37246192:A:C
                                        Gene:
                                        NDUFAF7 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.37246193A>C, NC_000002.11:g.37473336A>C, NG_053078.1:g.19563A>C, NM_144736.5:c.934A>C, NM_144736.4:c.934A>C, NR_146409.3:n.982A>C, NR_146409.2:n.982A>C, NR_146409.1:n.1009A>C, NR_146406.2:n.1615A>C, NR_146406.1:n.1642A>C, NR_146408.2:n.982A>C, NR_146408.1:n.1009A>C, NR_146403.2:n.1615A>C, NR_146403.1:n.1642A>C, NR_146402.2:n.982A>C, NR_146402.1:n.1009A>C, NR_146407.2:n.923A>C, NR_146407.1:n.950A>C, NM_001350024.2:c.934A>C, NM_001350024.1:c.934A>C, NR_146401.2:n.828A>C, NR_146401.1:n.855A>C, NR_146405.2:n.769A>C, NR_146405.1:n.796A>C, NM_001350025.2:c.853A>C, NM_001350025.1:c.853A>C, NM_001350027.2:c.721A>C, NM_001350027.1:c.721A>C, NR_146404.2:n.747A>C, NR_146404.1:n.774A>C, NR_146410.2:n.737A>C, NR_146410.1:n.764A>C, NM_001083946.2:c.640A>C, NM_001083946.1:c.640A>C, NM_018607.5:c.*189A>C, NM_018607.4:c.-93A>C, XM_005264410.3:c.808A>C, XM_005264410.2:c.808A>C, XM_005264410.1:c.808A>C, NM_018607.3:c.-93A>C, XM_024452977.2:c.595A>C, XM_024452977.1:c.595A>C, NM_018607.2:c.-93A>C, XR_007077548.1:n.769A>C, XR_007077549.1:n.769A>C, NM_018607.1:c.-93A>C

                                        20.

                                        rs1446241629 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          2:37243972 (GRCh38)
                                          2:37471115 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:37243971:A:G,NC_000002.12:37243971:A:T
                                          Gene:
                                          NDUFAF7 (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000002.12:g.37243972A>G, NC_000002.12:g.37243972A>T, NC_000002.11:g.37471115A>G, NC_000002.11:g.37471115A>T, NG_053078.1:g.17342A>G, NG_053078.1:g.17342A>T, NM_144736.5:c.791A>G, NM_144736.5:c.791A>T, NM_144736.4:c.791A>G, NM_144736.4:c.791A>T, NR_146409.3:n.839A>G, NR_146409.3:n.839A>T, NR_146409.2:n.839A>G, NR_146409.2:n.839A>T, NR_146409.1:n.866A>G, NR_146409.1:n.866A>T, NR_146406.2:n.1472A>G, NR_146406.2:n.1472A>T, NR_146406.1:n.1499A>G, NR_146406.1:n.1499A>T, NR_146408.2:n.839A>G, NR_146408.2:n.839A>T, NR_146408.1:n.866A>G, NR_146408.1:n.866A>T, NR_146403.2:n.1472A>G, NR_146403.2:n.1472A>T, NR_146403.1:n.1499A>G, NR_146403.1:n.1499A>T, NR_146402.2:n.839A>G, NR_146402.2:n.839A>T, NR_146402.1:n.866A>G, NR_146402.1:n.866A>T, NR_146407.2:n.780A>G, NR_146407.2:n.780A>T, NR_146407.1:n.807A>G, NR_146407.1:n.807A>T, NM_001350024.2:c.791A>G, NM_001350024.2:c.791A>T, NM_001350024.1:c.791A>G, NM_001350024.1:c.791A>T, NR_146401.2:n.685A>G, NR_146401.2:n.685A>T, NR_146401.1:n.712A>G, NR_146401.1:n.712A>T, NR_146405.2:n.626A>G, NR_146405.2:n.626A>T, NR_146405.1:n.653A>G, NR_146405.1:n.653A>T, NM_001350025.2:c.710A>G, NM_001350025.2:c.710A>T, NM_001350025.1:c.710A>G, NM_001350025.1:c.710A>T, NM_001350027.2:c.578A>G, NM_001350027.2:c.578A>T, NM_001350027.1:c.578A>G, NM_001350027.1:c.578A>T, NR_146404.2:n.604A>G, NR_146404.2:n.604A>T, NR_146404.1:n.631A>G, NR_146404.1:n.631A>T, NR_146410.2:n.594A>G, NR_146410.2:n.594A>T, NR_146410.1:n.621A>G, NR_146410.1:n.621A>T, NM_001083946.2:c.497A>G, NM_001083946.2:c.497A>T, NM_001083946.1:c.497A>G, NM_001083946.1:c.497A>T, NM_018607.5:c.*46A>G, NM_018607.5:c.*46A>T, NM_018607.4:c.-236A>G, NM_018607.4:c.-236A>T, XM_005264410.3:c.665A>G, XM_005264410.3:c.665A>T, XM_005264410.2:c.665A>G, XM_005264410.2:c.665A>T, XM_005264410.1:c.665A>G, XM_005264410.1:c.665A>T, NM_018607.3:c.-236A>G, NM_018607.3:c.-236A>T, XM_024452977.2:c.452A>G, XM_024452977.2:c.452A>T, XM_024452977.1:c.452A>G, XM_024452977.1:c.452A>T, NM_018607.2:c.-236A>G, NM_018607.2:c.-236A>T, XR_007077548.1:n.626A>G, XR_007077548.1:n.626A>T, XR_007077549.1:n.626A>G, XR_007077549.1:n.626A>T, NM_018607.1:c.-236A>G, NM_018607.1:c.-236A>T, NP_653337.1:p.Gln264Arg, NP_653337.1:p.Gln264Leu, NP_001336953.1:p.Gln264Arg, NP_001336953.1:p.Gln264Leu, NP_001336954.1:p.Gln237Arg, NP_001336954.1:p.Gln237Leu, NP_001336956.1:p.Gln193Arg, NP_001336956.1:p.Gln193Leu, NP_001077415.1:p.Gln166Arg, NP_001077415.1:p.Gln166Leu, XP_005264467.1:p.Gln222Arg, XP_005264467.1:p.Gln222Leu, XP_024308745.1:p.Gln151Arg, XP_024308745.1:p.Gln151Leu

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