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Items: 1 to 20 of 33888

1.

rs1491588423 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AA>- [Show Flanks]
    Chromosome:
    2:47806770 (GRCh38)
    2:48033909 (GRCh37)
    Canonical SPDI:
    NC_000002.12:47806769:AA:
    Gene:
    MSH6 (Varview), FBXO11 (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant,intron_variant
    Clinical significance:
    likely-benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.01791/453 (ALFA)
    -=0.00009/9 (ExAC)
    HGVS:

    2.

    rs1491582330 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AA>- [Show Flanks]
      Chromosome:
      2:47813424 (GRCh38)
      2:48040563 (GRCh37)
      Canonical SPDI:
      NC_000002.12:47813423:AA:
      Gene:
      FBXO11 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0./0 (ALFA)
      -=0.000016/1 (ExAC)
      -=0.000018/2 (GnomAD)
      -=0.000056/5 (GnomAD_exomes)
      HGVS:

      3.

      rs1491575796 has merged into rs367983630 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        2:47861920 (GRCh38)
        2:48089059 (GRCh37)
        Canonical SPDI:
        NC_000002.12:47861907:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:47861907:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:47861907:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:47861907:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:47861907:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:47861907:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:47861907:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:47861907:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:47861907:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        FBXO11 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000002.12:g.47861920_47861921del, NC_000002.12:g.47861921del, NC_000002.12:g.47861921dup, NC_000002.12:g.47861920_47861921dup, NC_000002.12:g.47861919_47861921dup, NC_000002.12:g.47861918_47861921dup, NC_000002.12:g.47861917_47861921dup, NC_000002.12:g.47861916_47861921dup, NC_000002.12:g.47861921_47861922insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.48089059_48089060del, NC_000002.11:g.48089060del, NC_000002.11:g.48089060dup, NC_000002.11:g.48089059_48089060dup, NC_000002.11:g.48089058_48089060dup, NC_000002.11:g.48089057_48089060dup, NC_000002.11:g.48089056_48089060dup, NC_000002.11:g.48089055_48089060dup, NC_000002.11:g.48089060_48089061insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008397.1:g.48767_48768del, NG_008397.1:g.48768del, NG_008397.1:g.48768dup, NG_008397.1:g.48767_48768dup, NG_008397.1:g.48766_48768dup, NG_008397.1:g.48765_48768dup, NG_008397.1:g.48764_48768dup, NG_008397.1:g.48763_48768dup, NG_008397.1:g.48768_48769insAAAAAAAAAAAAAAAAAAAAAAAAAAA

        4.

        rs1491569727 has merged into rs35781475 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          2:47805193 (GRCh38)
          2:48032332 (GRCh37)
          Canonical SPDI:
          NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47805183:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          MSH6 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTT=0./0 (ALFA)
          -=0.000008/2 (TOPMED)
          T=0.003344/2 (NorthernSweden)
          HGVS:
          NC_000002.12:g.47805193_47805197del, NC_000002.12:g.47805194_47805197del, NC_000002.12:g.47805195_47805197del, NC_000002.12:g.47805196_47805197del, NC_000002.12:g.47805197del, NC_000002.12:g.47805197dup, NC_000002.12:g.47805196_47805197dup, NC_000002.12:g.47805195_47805197dup, NC_000002.12:g.47805194_47805197dup, NC_000002.12:g.47805193_47805197dup, NC_000002.12:g.47805192_47805197dup, NC_000002.12:g.47805190_47805197dup, NC_000002.12:g.47805185_47805197dup, NC_000002.11:g.48032332_48032336del, NC_000002.11:g.48032333_48032336del, NC_000002.11:g.48032334_48032336del, NC_000002.11:g.48032335_48032336del, NC_000002.11:g.48032336del, NC_000002.11:g.48032336dup, NC_000002.11:g.48032335_48032336dup, NC_000002.11:g.48032334_48032336dup, NC_000002.11:g.48032333_48032336dup, NC_000002.11:g.48032332_48032336dup, NC_000002.11:g.48032331_48032336dup, NC_000002.11:g.48032329_48032336dup, NC_000002.11:g.48032324_48032336dup, NG_008397.1:g.105488_105492del, NG_008397.1:g.105489_105492del, NG_008397.1:g.105490_105492del, NG_008397.1:g.105491_105492del, NG_008397.1:g.105492del, NG_008397.1:g.105492dup, NG_008397.1:g.105491_105492dup, NG_008397.1:g.105490_105492dup, NG_008397.1:g.105489_105492dup, NG_008397.1:g.105488_105492dup, NG_008397.1:g.105487_105492dup, NG_008397.1:g.105485_105492dup, NG_008397.1:g.105480_105492dup, NG_007111.1:g.27047_27051del, NG_007111.1:g.27048_27051del, NG_007111.1:g.27049_27051del, NG_007111.1:g.27050_27051del, NG_007111.1:g.27051del, NG_007111.1:g.27051dup, NG_007111.1:g.27050_27051dup, NG_007111.1:g.27049_27051dup, NG_007111.1:g.27048_27051dup, NG_007111.1:g.27047_27051dup, NG_007111.1:g.27046_27051dup, NG_007111.1:g.27044_27051dup, NG_007111.1:g.27039_27051dup

          5.

          rs1491562530 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            GT>- [Show Flanks]
            Chromosome:
            2:47805173 (GRCh38)
            2:48032312 (GRCh37)
            Canonical SPDI:
            NC_000002.12:47805172:GT:
            Gene:
            MSH6 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            -=0.000337/4 (ALFA)
            -=0.000302/42 (GnomAD)
            -=0.000779/13 (TOMMO)
            HGVS:

            6.

            rs1491544951 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->TAAGGAATTATAGACTG [Show Flanks]
              Chromosome:
              2:47806847 (GRCh38)
              2:48033987 (GRCh37)
              Canonical SPDI:
              NC_000002.12:47806847:TAAGGAATTATAGACTG:TAAGGAATTATAGACTGTAAGGAATTATAGACTG
              Gene:
              MSH6 (Varview), FBXO11 (Varview)
              Functional Consequence:
              terminator_codon_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
              Clinical significance:
              uncertain-significance,likely-benign
              HGVS:
              NC_000002.12:g.47806848_47806864dup, NC_000002.11:g.48033987_48034003dup, NG_008397.1:g.103812_103828dup, NG_007111.1:g.28702_28718dup, NM_000179.3:c.4071_*4dup, NM_000179.2:c.4071_*4dup, NM_001281493.2:c.3165_*4dup, NM_001281493.1:c.3165_*4dup, NM_001281494.2:c.3165_*4dup, NM_001281494.1:c.3165_*4dup, NM_001281492.2:c.3681_*4dup, NM_001281492.1:c.3681_*4dup, NM_001406830.1:c.3774_*4dup, NM_001406807.1:c.3546_*4dup, NR_176257.1:n.4332_4348dup, NM_001406826.1:c.3903_*4dup, NR_176258.1:n.4261_4277dup, NM_001406795.1:c.4167_*4dup, NM_001406814.1:c.3165_*4dup, NR_176259.1:n.4160_4176dup, NM_001406813.1:c.4077_*4dup, NM_001406808.1:c.*52_*68dup, NM_001406800.1:c.*92_*108dup, NM_001406804.1:c.3993_*4dup, NM_001406796.1:c.4071_*4dup, NM_001406809.1:c.4071_*4dup, NM_001406825.1:c.3774_*4dup, NM_001406802.1:c.*52_*68dup, NR_176261.1:n.4042_4058dup, NM_001406818.1:c.3774_*4dup, NM_001406798.1:c.3897_*4dup, NM_001406819.1:c.3774_*4dup, NM_001406799.1:c.3546_*4dup, NM_001406824.1:c.3774_*4dup, NM_001406822.1:c.*52_*68dup, NM_001406811.1:c.3165_*4dup, NM_001406821.1:c.3774_*4dup, NM_001406797.1:c.3774_*4dup, NM_001406827.1:c.3774_*4dup, NM_001406801.1:c.*52_*68dup, NM_001406820.1:c.3774_*4dup, NM_001406805.1:c.3774_*4dup, NM_001406812.1:c.3165_*4dup, NM_001406828.1:c.3774_*4dup, NM_001406829.1:c.3165_*4dup, NM_001406816.1:c.3165_*4dup, NM_001406806.1:c.3546_*4dup, NM_001406823.1:c.3165_*4dup, NM_001406815.1:c.3165_*4dup, NM_001406803.1:c.3207_*4dup, NR_176256.1:n.3001_3017dup, NM_001406832.1:c.918_*4dup, NM_001406817.1:c.2505_*4dup, NM_001407362.1:c.2016_*4dup, NM_001406831.1:c.852_*4dup, NM_018693.1:c.*1255_*1271dup, NR_176260.1:n.2105_2121dup

              7.

              rs1491535283 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AG>- [Show Flanks]
                Chromosome:
                2:47829266 (GRCh38)
                2:48056405 (GRCh37)
                Canonical SPDI:
                NC_000002.12:47829263:AGAG:AG
                Gene:
                FBXO11 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                AGAG=0.000071/1 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1491525560 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->GA [Show Flanks]
                  Chromosome:
                  2:47838062 (GRCh38)
                  2:48065202 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:47838062:A:AGA
                  Gene:
                  FBXO11 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AGA=0./0 (ALFA)
                  AG=0.000004/1 (TOPMED)
                  AG=0.000148/2 (GnomAD)
                  HGVS:

                  9.

                  rs1491515002 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->AT,ATAT [Show Flanks]
                    Chromosome:
                    2:47900874 (GRCh38)
                    2:48128014 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:47900874:T:TAT,NC_000002.12:47900874:T:TATAT
                    Gene:
                    FBXO11 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TAT=0./0 (ALFA)
                    TATA=0.00001/1 (GnomAD)
                    HGVS:

                    10.

                    rs1491505573 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      TG>-
                      Chromosome:
                      no mapping
                      Canonical SPDI:

                      11.

                      rs1491502636 has merged into rs11286219 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        2:47838073 (GRCh38)
                        2:48065212 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:47838061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:47838061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:47838061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:47838061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:47838061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:47838061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:47838061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:47838061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47838061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47838061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47838061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:47838061:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        FBXO11 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAAAA=0./0 (ALFA)
                        HGVS:
                        NC_000002.12:g.47838073_47838083del, NC_000002.12:g.47838076_47838083del, NC_000002.12:g.47838077_47838083del, NC_000002.12:g.47838079_47838083del, NC_000002.12:g.47838080_47838083del, NC_000002.12:g.47838081_47838083del, NC_000002.12:g.47838082_47838083del, NC_000002.12:g.47838083del, NC_000002.12:g.47838083dup, NC_000002.12:g.47838082_47838083dup, NC_000002.12:g.47838081_47838083dup, NC_000002.12:g.47838080_47838083dup, NC_000002.11:g.48065212_48065222del, NC_000002.11:g.48065215_48065222del, NC_000002.11:g.48065216_48065222del, NC_000002.11:g.48065218_48065222del, NC_000002.11:g.48065219_48065222del, NC_000002.11:g.48065220_48065222del, NC_000002.11:g.48065221_48065222del, NC_000002.11:g.48065222del, NC_000002.11:g.48065222dup, NC_000002.11:g.48065221_48065222dup, NC_000002.11:g.48065220_48065222dup, NC_000002.11:g.48065219_48065222dup, NG_008397.1:g.72604_72614del, NG_008397.1:g.72607_72614del, NG_008397.1:g.72608_72614del, NG_008397.1:g.72610_72614del, NG_008397.1:g.72611_72614del, NG_008397.1:g.72612_72614del, NG_008397.1:g.72613_72614del, NG_008397.1:g.72614del, NG_008397.1:g.72614dup, NG_008397.1:g.72613_72614dup, NG_008397.1:g.72612_72614dup, NG_008397.1:g.72611_72614dup

                        12.

                        rs1491477956 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->ACAC [Show Flanks]
                          Chromosome:
                          2:47900911 (GRCh38)
                          2:48128051 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:47900911::ACAC
                          Gene:
                          FBXO11 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          ACAC=0./0 (ALFA)
                          ACAC=0.000203/27 (GnomAD)
                          ACAC=0.000312/2 (1000Genomes)
                          HGVS:

                          13.

                          rs1491466087 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TA>- [Show Flanks]
                            Chromosome:
                            2:47807293 (GRCh38)
                            2:48034432 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:47807291:ATA:A
                            Gene:
                            MSH6 (Varview), FBXO11 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            -=0.000086/12 (GnomAD)
                            -=0.000185/49 (TOPMED)
                            HGVS:
                            NC_000002.12:g.47807293_47807294del, NC_000002.11:g.48034432_48034433del, NG_008397.1:g.103383_103384del, NM_025133.4:c.*825_*826del, NM_001190274.2:c.*825_*826del, NM_001190274.1:c.*825_*826del, NM_001374325.1:c.*825_*826del, NG_007111.1:g.29147_29148del, XM_005264572.6:c.*825_*826del, XM_005264572.5:c.*825_*826del, XM_005264572.4:c.*825_*826del, XM_005264572.3:c.*825_*826del, XM_005264572.2:c.*825_*826del, XM_005264572.1:c.*825_*826del, XM_005264573.6:c.*825_*826del, XM_005264573.5:c.*825_*826del, XM_005264573.4:c.*825_*826del, XM_005264573.3:c.*825_*826del, XM_005264573.2:c.*825_*826del, XM_005264573.1:c.*825_*826del, XM_017005016.3:c.*825_*826del, XM_017005016.2:c.*825_*826del, XM_017005016.1:c.*825_*826del, XM_017005015.2:c.*825_*826del, XM_017005015.1:c.*825_*826del, XM_047445922.1:c.*825_*826del, XM_047445919.1:c.*825_*826del, XM_047445920.1:c.*825_*826del, XM_047445921.1:c.*825_*826del, NM_018693.1:c.*826_*827del

                            14.

                            rs1491448469 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              GT>- [Show Flanks]
                              Chromosome:
                              2:47861907 (GRCh38)
                              2:48089046 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:47861906:GT:
                              Gene:
                              FBXO11 (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              -=0.0013/5 (ALSPAC)
                              -=0.003/11 (TWINSUK)
                              HGVS:

                              15.

                              rs1491440281 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                2:47805184 (GRCh38)
                                2:48032324 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:47805184::C
                                Gene:
                                MSH6 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000422/5 (ALFA)
                                C=0.000193/24 (GnomAD)
                                C=0.000354/6 (TOMMO)
                                HGVS:

                                16.

                                rs1491439485 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  TT>- [Show Flanks]
                                  Chromosome:
                                  2:47806847 (GRCh38)
                                  2:48033986 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:47806846:TT:
                                  Gene:
                                  MSH6 (Varview), FBXO11 (Varview)
                                  Functional Consequence:
                                  500B_downstream_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  HGVS:
                                  NC_000002.12:g.47806847_47806848del, NC_000002.11:g.48033986_48033987del, NG_008397.1:g.103828_103829del, NG_007111.1:g.28701_28702del, NM_000179.3:c.4070_4071del, NM_000179.2:c.4070_4071del, NM_001281493.2:c.3164_3165del, NM_001281493.1:c.3164_3165del, NM_001281494.2:c.3164_3165del, NM_001281494.1:c.3164_3165del, NM_001281492.2:c.3680_3681del, NM_001281492.1:c.3680_3681del, NM_001406830.1:c.3773_3774del, NM_001406807.1:c.3545_3546del, NR_176257.1:n.4331_4332del, NM_001406826.1:c.3902_3903del, NR_176258.1:n.4260_4261del, NM_001406795.1:c.4166_4167del, NM_001406814.1:c.3164_3165del, NR_176259.1:n.4159_4160del, NM_001406813.1:c.4076_4077del, NM_001406808.1:c.*51_*52del, NM_001406800.1:c.*91_*92del, NM_001406804.1:c.3992_3993del, NM_001406796.1:c.4070_4071del, NM_001406809.1:c.4070_4071del, NM_001406825.1:c.3773_3774del, NM_001406802.1:c.*51_*52del, NR_176261.1:n.4041_4042del, NM_001406818.1:c.3773_3774del, NM_001406798.1:c.3896_3897del, NM_001406819.1:c.3773_3774del, NM_001406799.1:c.3545_3546del, NM_001406824.1:c.3773_3774del, NM_001406822.1:c.*51_*52del, NM_001406811.1:c.3164_3165del, NM_001406821.1:c.3773_3774del, NM_001406797.1:c.3773_3774del, NM_001406827.1:c.3773_3774del, NM_001406801.1:c.*51_*52del, NM_001406820.1:c.3773_3774del, NM_001406805.1:c.3773_3774del, NM_001406812.1:c.3164_3165del, NM_001406828.1:c.3773_3774del, NM_001406829.1:c.3164_3165del, NM_001406816.1:c.3164_3165del, NM_001406806.1:c.3545_3546del, NM_001406823.1:c.3164_3165del, NM_001406815.1:c.3164_3165del, NM_001406803.1:c.3206_3207del, NR_176256.1:n.3000_3001del, NM_001406832.1:c.917_918del, NM_001406817.1:c.2504_2505del, NM_001407362.1:c.2015_2016del, NM_001406831.1:c.851_852del, NM_018693.1:c.*1271_*1272del, NR_176260.1:n.2104_2105del, NP_000170.1:p.Ile1357fs, NP_001268422.1:p.Ile1055fs, NP_001268423.1:p.Ile1055fs, NP_001268421.1:p.Ile1227fs

                                  17.

                                  rs1491431772 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    AC>- [Show Flanks]
                                    Chromosome:
                                    2:47900666 (GRCh38)
                                    2:48127805 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:47900665:AC:
                                    Gene:
                                    FBXO11 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0.02352/279 (ALFA)
                                    -=0.00108/16 (TOMMO)
                                    -=0.00666/419 (GnomAD)
                                    -=0.01626/8 (NorthernSweden)
                                    HGVS:

                                    18.

                                    rs1491424817 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->GTATAT,GTGTATAT,T [Show Flanks]
                                      Chromosome:
                                      2:47900602 (GRCh38)
                                      2:48127742 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:47900602:T:TGTATAT,NC_000002.12:47900602:T:TGTGTATAT,NC_000002.12:47900602:T:TT
                                      Gene:
                                      FBXO11 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TT=0./0 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1491424730 has merged into rs62781561 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TTTTT>-,TTT,TTTT,TTTTTT [Show Flanks]
                                        Chromosome:
                                        2:47854870 (GRCh38)
                                        2:48082009 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:47854863:TTTTTTTTTTT:TTTTTT,NC_000002.12:47854863:TTTTTTTTTTT:TTTTTTTTT,NC_000002.12:47854863:TTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:47854863:TTTTTTTTTTT:TTTTTTTTTTTT
                                        Gene:
                                        FBXO11 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TTTTTTTTT=0./0 (ALFA)
                                        T=0.01762/295 (TOMMO)
                                        T=0.05/2 (GENOME_DK)
                                        T=0.09944/498 (1000Genomes)
                                        T=0.1745/104 (NorthernSweden)
                                        HGVS:

                                        20.

                                        rs1491418570 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->A [Show Flanks]
                                          Chromosome:
                                          2:47833633 (GRCh38)
                                          2:48060773 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:47833633:A:AA
                                          Gene:
                                          FBXO11 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AA=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:

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