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Items: 1 to 20 of 1000

1.

rs1491569118 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    1:11988081 (GRCh38)
    1:12048139 (GRCh37)
    Canonical SPDI:
    NC_000001.11:11988081::G
    Gene:
    MFN2 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by cluster
    MAF:
    G=0.000287/36 (GnomAD)
    G=0.000495/8 (TOMMO)
    HGVS:

    2.

    rs1491563134 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      1:11986592 (GRCh38)
      1:12046650 (GRCh37)
      Canonical SPDI:
      NC_000001.11:11986592::C
      Gene:
      MFN2 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1491468831 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->AA,CA [Show Flanks]
        Chromosome:
        1:11998027 (GRCh38)
        1:12058085 (GRCh37)
        Canonical SPDI:
        NC_000001.11:11998027::AA,NC_000001.11:11998027::CA
        Gene:
        MFN2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CA=0./0 (ALFA)
        CA=0.000007/1 (GnomAD)
        CA=0.000106/3 (TOMMO)
        AA=0.000546/1 (Korea1K)
        HGVS:

        4.

        rs1491460690 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TG>- [Show Flanks]
          Chromosome:
          1:11998028 (GRCh38)
          1:12058085 (GRCh37)
          Canonical SPDI:
          NC_000001.11:11998026:GTG:G
          Gene:
          MFN2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000224/1 (ALFA)
          -=0.000029/4 (GnomAD)
          -=0.000223/1 (Estonian)
          HGVS:

          5.

          rs1491408354 has merged into rs768355266 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            1:11997891 (GRCh38)
            1:12057948 (GRCh37)
            Canonical SPDI:
            NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:11997879:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            MFN2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            -=0.275/11 (GENOME_DK)
            HGVS:
            NC_000001.11:g.11997891_11997901del, NC_000001.11:g.11997892_11997901del, NC_000001.11:g.11997893_11997901del, NC_000001.11:g.11997895_11997901del, NC_000001.11:g.11997896_11997901del, NC_000001.11:g.11997897_11997901del, NC_000001.11:g.11997898_11997901del, NC_000001.11:g.11997899_11997901del, NC_000001.11:g.11997900_11997901del, NC_000001.11:g.11997901del, NC_000001.11:g.11997901dup, NC_000001.11:g.11997900_11997901dup, NC_000001.11:g.11997899_11997901dup, NC_000001.11:g.11997898_11997901dup, NC_000001.11:g.11997897_11997901dup, NC_000001.11:g.11997896_11997901dup, NC_000001.11:g.11997895_11997901dup, NC_000001.11:g.11997894_11997901dup, NC_000001.11:g.11997893_11997901dup, NC_000001.11:g.11997892_11997901dup, NC_000001.11:g.11997891_11997901dup, NC_000001.11:g.11997890_11997901dup, NC_000001.11:g.11997889_11997901dup, NC_000001.11:g.11997887_11997901dup, NC_000001.11:g.11997880_11997901dup, NC_000001.11:g.11997901_11997902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.11997901_11997902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.11997901_11997902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.12057948_12057958del, NC_000001.10:g.12057949_12057958del, NC_000001.10:g.12057950_12057958del, NC_000001.10:g.12057952_12057958del, NC_000001.10:g.12057953_12057958del, NC_000001.10:g.12057954_12057958del, NC_000001.10:g.12057955_12057958del, NC_000001.10:g.12057956_12057958del, NC_000001.10:g.12057957_12057958del, NC_000001.10:g.12057958del, NC_000001.10:g.12057958dup, NC_000001.10:g.12057957_12057958dup, NC_000001.10:g.12057956_12057958dup, NC_000001.10:g.12057955_12057958dup, NC_000001.10:g.12057954_12057958dup, NC_000001.10:g.12057953_12057958dup, NC_000001.10:g.12057952_12057958dup, NC_000001.10:g.12057951_12057958dup, NC_000001.10:g.12057950_12057958dup, NC_000001.10:g.12057949_12057958dup, NC_000001.10:g.12057948_12057958dup, NC_000001.10:g.12057947_12057958dup, NC_000001.10:g.12057946_12057958dup, NC_000001.10:g.12057944_12057958dup, NC_000001.10:g.12057937_12057958dup, NC_000001.10:g.12057958_12057959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.12057958_12057959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.12057958_12057959insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007945.1:g.22711_22721del, NG_007945.1:g.22712_22721del, NG_007945.1:g.22713_22721del, NG_007945.1:g.22715_22721del, NG_007945.1:g.22716_22721del, NG_007945.1:g.22717_22721del, NG_007945.1:g.22718_22721del, NG_007945.1:g.22719_22721del, NG_007945.1:g.22720_22721del, NG_007945.1:g.22721del, NG_007945.1:g.22721dup, NG_007945.1:g.22720_22721dup, NG_007945.1:g.22719_22721dup, NG_007945.1:g.22718_22721dup, NG_007945.1:g.22717_22721dup, NG_007945.1:g.22716_22721dup, NG_007945.1:g.22715_22721dup, NG_007945.1:g.22714_22721dup, NG_007945.1:g.22713_22721dup, NG_007945.1:g.22712_22721dup, NG_007945.1:g.22711_22721dup, NG_007945.1:g.22710_22721dup, NG_007945.1:g.22709_22721dup, NG_007945.1:g.22707_22721dup, NG_007945.1:g.22700_22721dup, NG_007945.1:g.22721_22722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007945.1:g.22721_22722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007945.1:g.22721_22722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

            6.

            rs1491365466 has merged into rs3221281 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTT>-,TT [Show Flanks]
              Chromosome:
              1:11988082 (GRCh38)
              1:12048139 (GRCh37)
              Canonical SPDI:
              NC_000001.11:11988080:TTTTT:T,NC_000001.11:11988080:TTTTT:TTT
              Gene:
              MFN2 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTT=0.055596/908 (ALFA)
              -=0.001038/4 (ALSPAC)
              -=0.049003/6800 (GnomAD)
              -=0.075/3 (GENOME_DK)
              -=0.075578/484 (1000Genomes)
              -=0.086667/52 (NorthernSweden)
              -=0.153196/2568 (TOMMO)
              TT=0.342685/342 (GoNL)
              HGVS:

              7.

              rs1491335535 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->GTT [Show Flanks]
                Chromosome:
                1:11997880 (GRCh38)
                1:12057938 (GRCh37)
                Canonical SPDI:
                NC_000001.11:11997880:TT:TTGTT
                Gene:
                MFN2 (Varview)
                Functional Consequence:
                intron_variant
                HGVS:

                8.

                rs1491301102 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  1:11997038 (GRCh38)
                  1:12057095 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:11997037:CA:
                  Gene:
                  MFN2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00034/4 (ALFA)
                  HGVS:

                  9.

                  rs1491270455 has merged into rs555735351 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT [Show Flanks]
                    Chromosome:
                    1:11986604 (GRCh38)
                    1:12046661 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:11986591:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:11986591:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:11986591:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:11986591:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:11986591:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:11986591:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:11986591:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:11986591:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    MFN2 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTTTTTTT=0./0 (ALFA)
                    -=0.14696/736 (1000Genomes)
                    HGVS:

                    10.

                    rs1491210176 has merged into rs35141271 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      1:11997045 (GRCh38)
                      1:12057102 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:11997038:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      MFN2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Clinical significance:
                      benign,likely-benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAA=0./0 (ALFA)
                      -=0.000011/3 (TOPMED)
                      -=0.448106/1727 (ALSPAC)
                      A=0.491613/2462 (1000Genomes)
                      HGVS:
                      NC_000001.11:g.11997045_11997057del, NC_000001.11:g.11997049_11997057del, NC_000001.11:g.11997051_11997057del, NC_000001.11:g.11997052_11997057del, NC_000001.11:g.11997053_11997057del, NC_000001.11:g.11997054_11997057del, NC_000001.11:g.11997055_11997057del, NC_000001.11:g.11997056_11997057del, NC_000001.11:g.11997057del, NC_000001.11:g.11997057dup, NC_000001.11:g.11997056_11997057dup, NC_000001.11:g.11997055_11997057dup, NC_000001.11:g.11997053_11997057dup, NC_000001.11:g.11997048_11997057dup, NC_000001.10:g.12057102_12057114del, NC_000001.10:g.12057106_12057114del, NC_000001.10:g.12057108_12057114del, NC_000001.10:g.12057109_12057114del, NC_000001.10:g.12057110_12057114del, NC_000001.10:g.12057111_12057114del, NC_000001.10:g.12057112_12057114del, NC_000001.10:g.12057113_12057114del, NC_000001.10:g.12057114del, NC_000001.10:g.12057114dup, NC_000001.10:g.12057113_12057114dup, NC_000001.10:g.12057112_12057114dup, NC_000001.10:g.12057110_12057114dup, NC_000001.10:g.12057105_12057114dup, NG_007945.1:g.21865_21877del, NG_007945.1:g.21869_21877del, NG_007945.1:g.21871_21877del, NG_007945.1:g.21872_21877del, NG_007945.1:g.21873_21877del, NG_007945.1:g.21874_21877del, NG_007945.1:g.21875_21877del, NG_007945.1:g.21876_21877del, NG_007945.1:g.21877del, NG_007945.1:g.21877dup, NG_007945.1:g.21876_21877dup, NG_007945.1:g.21875_21877dup, NG_007945.1:g.21873_21877dup, NG_007945.1:g.21868_21877dup

                      11.

                      rs1491136108 has merged into rs78088488 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        1:11987324 (GRCh38)
                        1:12047381 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:11987311:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:11987311:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:11987311:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:11987311:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:11987311:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:11987311:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:11987311:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:11987311:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        MFN2 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAAAAAAA=0./0 (ALFA)
                        A=0.3/12 (GENOME_DK)
                        A=0.3374/193 (NorthernSweden)
                        A=0.3444/1725 (1000Genomes)
                        HGVS:

                        12.

                        rs1490975088 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:11985347 (GRCh38)
                          1:12045404 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:11985346:G:A
                          Gene:
                          MFN2 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:

                          13.

                          rs1490844642 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            1:12006813 (GRCh38)
                            1:12066870 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:12006812:C:G
                            Gene:
                            MFN2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1490769594 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:12013784 (GRCh38)
                              1:12073841 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:12013783:A:G
                              Gene:
                              MFN2 (Varview)
                              Functional Consequence:
                              500B_downstream_variant,downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              G=0.000011/3 (TOPMED)
                              HGVS:

                              15.

                              rs1490734392 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:11987741 (GRCh38)
                                1:12047798 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:11987740:A:G
                                Gene:
                                MFN2 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490606163 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  1:12013254 (GRCh38)
                                  1:12073311 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:12013253:G:T
                                  Gene:
                                  MFN2 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000015/4 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1490568425 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:11998333 (GRCh38)
                                    1:12058390 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:11998332:G:A
                                    Gene:
                                    MFN2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490466394 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      1:12005780 (GRCh38)
                                      1:12065837 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:12005779:T:A
                                      Gene:
                                      MFN2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_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.

                                      rs1490244655 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:11986748 (GRCh38)
                                        1:12046805 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:11986747:G:A
                                        Gene:
                                        MFN2 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000023/6 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490242463 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CCC>- [Show Flanks]
                                          Chromosome:
                                          1:11999308 (GRCh38)
                                          1:12059365 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:11999306:CCCC:C
                                          Gene:
                                          MFN2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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