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Items: 1 to 20 of 1000

1.

rs1491576292 has merged into rs146311189 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    X:49168483 (GRCh38)
    X:49024822 (GRCh37)
    Canonical SPDI:
    NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    MAGIX (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000023.11:g.49168483_49168493del, NC_000023.11:g.49168484_49168493del, NC_000023.11:g.49168485_49168493del, NC_000023.11:g.49168486_49168493del, NC_000023.11:g.49168487_49168493del, NC_000023.11:g.49168489_49168493del, NC_000023.11:g.49168490_49168493del, NC_000023.11:g.49168491_49168493del, NC_000023.11:g.49168492_49168493del, NC_000023.11:g.49168493del, NC_000023.11:g.49168493dup, NC_000023.11:g.49168492_49168493dup, NC_000023.11:g.49168491_49168493dup, NC_000023.11:g.49168490_49168493dup, NC_000023.11:g.49168489_49168493dup, NW_004070880.2:g.1407912_1407922del, NW_004070880.2:g.1407913_1407922del, NW_004070880.2:g.1407914_1407922del, NW_004070880.2:g.1407915_1407922del, NW_004070880.2:g.1407916_1407922del, NW_004070880.2:g.1407918_1407922del, NW_004070880.2:g.1407919_1407922del, NW_004070880.2:g.1407920_1407922del, NW_004070880.2:g.1407921_1407922del, NW_004070880.2:g.1407922del, NW_004070880.2:g.1407922dup, NW_004070880.2:g.1407921_1407922dup, NW_004070880.2:g.1407920_1407922dup, NW_004070880.2:g.1407919_1407922dup, NW_004070880.2:g.1407918_1407922dup, NG_016420.2:g.1587_1597del, NG_016420.2:g.1588_1597del, NG_016420.2:g.1589_1597del, NG_016420.2:g.1590_1597del, NG_016420.2:g.1591_1597del, NG_016420.2:g.1593_1597del, NG_016420.2:g.1594_1597del, NG_016420.2:g.1595_1597del, NG_016420.2:g.1596_1597del, NG_016420.2:g.1597del, NG_016420.2:g.1597dup, NG_016420.2:g.1596_1597dup, NG_016420.2:g.1595_1597dup, NG_016420.2:g.1594_1597dup, NG_016420.2:g.1593_1597dup, NG_016420.1:g.1646_1647dup, NG_016420.1:g.1639_1647del, NG_016420.1:g.1640_1647del, NG_016420.1:g.1641_1647del, NG_016420.1:g.1642_1647del, NG_016420.1:g.1643_1647del, NG_016420.1:g.1645_1647del, NG_016420.1:g.1646_1647del, NG_016420.1:g.1647del, NG_016420.1:g.1647dup, NG_016420.1:g.1645_1647dup, NG_016420.1:g.1644_1647dup, NG_016420.1:g.1643_1647dup, NG_016420.1:g.1642_1647dup, NG_016420.1:g.1641_1647dup, NW_025791820.1:g.327434_327444del, NW_025791820.1:g.327435_327444del, NW_025791820.1:g.327436_327444del, NW_025791820.1:g.327437_327444del, NW_025791820.1:g.327438_327444del, NW_025791820.1:g.327440_327444del, NW_025791820.1:g.327441_327444del, NW_025791820.1:g.327442_327444del, NW_025791820.1:g.327443_327444del, NW_025791820.1:g.327444del, NW_025791820.1:g.327444dup, NW_025791820.1:g.327443_327444dup, NW_025791820.1:g.327442_327444dup, NW_025791820.1:g.327441_327444dup, NW_025791820.1:g.327440_327444dup, NC_000023.10:g.49024829_49024830dup, NC_000023.10:g.49024822_49024830del, NC_000023.10:g.49024823_49024830del, NC_000023.10:g.49024824_49024830del, NC_000023.10:g.49024825_49024830del, NC_000023.10:g.49024826_49024830del, NC_000023.10:g.49024828_49024830del, NC_000023.10:g.49024829_49024830del, NC_000023.10:g.49024830del, NC_000023.10:g.49024830dup, NC_000023.10:g.49024828_49024830dup, NC_000023.10:g.49024827_49024830dup, NC_000023.10:g.49024826_49024830dup, NC_000023.10:g.49024825_49024830dup, NC_000023.10:g.49024824_49024830dup, NM_024859.4:c.*2084_*2094del, NM_024859.4:c.*2085_*2094del, NM_024859.4:c.*2086_*2094del, NM_024859.4:c.*2087_*2094del, NM_024859.4:c.*2088_*2094del, NM_024859.4:c.*2090_*2094del, NM_024859.4:c.*2091_*2094del, NM_024859.4:c.*2092_*2094del, NM_024859.4:c.*2093_*2094del, NM_024859.4:c.*2094del, NM_024859.4:c.*2094dup, NM_024859.4:c.*2093_*2094dup, NM_024859.4:c.*2092_*2094dup, NM_024859.4:c.*2091_*2094dup, NM_024859.4:c.*2090_*2094dup, NM_001395401.1:c.*2084_*2094del, NM_001395401.1:c.*2085_*2094del, NM_001395401.1:c.*2086_*2094del, NM_001395401.1:c.*2087_*2094del, NM_001395401.1:c.*2088_*2094del, NM_001395401.1:c.*2090_*2094del, NM_001395401.1:c.*2091_*2094del, NM_001395401.1:c.*2092_*2094del, NM_001395401.1:c.*2093_*2094del, NM_001395401.1:c.*2094del, NM_001395401.1:c.*2094dup, NM_001395401.1:c.*2093_*2094dup, NM_001395401.1:c.*2092_*2094dup, NM_001395401.1:c.*2091_*2094dup, NM_001395401.1:c.*2090_*2094dup
    2.

    rs1491465336 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      X:49168467 (GRCh38)
      X:49024807 (GRCh37)
      Canonical SPDI:
      NC_000023.11:49168466:CA:
      Gene:
      MAGIX (Varview)
      Functional Consequence:
      downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      -=0.00877/104 (ALFA)
      -=0.00065/10 (GnomAD)
      -=0.00291/59 (TOMMO)
      HGVS:
      3.

      rs1490699493 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ATA>- [Show Flanks]
        Chromosome:
        X:49167797 (GRCh38)
        X:49024136 (GRCh37)
        Canonical SPDI:
        NC_000023.11:49167791:TAATAATA:TAATA
        Gene:
        MAGIX (Varview)
        Functional Consequence:
        3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        TAATA=0./0 (ALFA)
        -=0.000011/3 (TOPMED)
        HGVS:
        4.

        rs1489883130 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          X:49168398 (GRCh38)
          X:49024737 (GRCh37)
          Canonical SPDI:
          NC_000023.11:49168397:G:A,NC_000023.11:49168397:G:T
          Gene:
          MAGIX (Varview)
          Functional Consequence:
          downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.00001/1 (GnomAD)
          HGVS:
          5.

          rs1487430957 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:49164208 (GRCh38)
            X:49020546 (GRCh37)
            Canonical SPDI:
            NC_000023.11:49164207:G:A
            Gene:
            MAGIX (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.00001/1 (GnomAD)
            A=0.000026/7 (TOPMED)
            HGVS:
            6.

            rs1486814542 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              X:49163588 (GRCh38)
              X:49019926 (GRCh37)
              Canonical SPDI:
              NC_000023.11:49163587:C:G,NC_000023.11:49163587:C:T
              Gene:
              MAGIX (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              G=0.000135/2 (TOMMO)
              HGVS:
              8.

              rs1486676750 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:49161761 (GRCh38)
                X:49014818 (GRCh37)
                Canonical SPDI:
                NC_000023.11:49161760:T:C
                Gene:
                MAGIX (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.00001/1 (GnomAD)
                C=0.000011/3 (TOPMED)
                HGVS:
                9.

                rs1486605871 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:49163152 (GRCh38)
                  X:49019490 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:49163151:G:A
                  Gene:
                  MAGIX (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  A=0.00003/3 (GnomAD)
                  HGVS:
                  10.

                  rs1485987801 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:49167507 (GRCh38)
                    X:49023846 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:49167506:G:A
                    Gene:
                    MAGIX (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.00001/1 (GnomAD)
                    HGVS:
                    11.

                    rs1484885229 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      X:49162911 (GRCh38)
                      X:49019249 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:49162910:G:C
                      Gene:
                      MAGIX (Varview)
                      Functional Consequence:
                      intron_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.000356/5 (ALFA)
                      C=0.000314/83 (TOPMED)
                      C=0.000408/43 (GnomAD)
                      HGVS:
                      12.

                      rs1484550527 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        X:49165958 (GRCh38)
                        X:49022297 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:49165957:G:A
                        Gene:
                        MAGIX (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000071/1 (ALFA)
                        A=0.000011/3 (TOPMED)
                        HGVS:
                        13.

                        rs1483457883 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          X:49168252 (GRCh38)
                          X:49024591 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:49168251:C:T
                          Gene:
                          MAGIX (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000026/7 (TOPMED)
                          T=0.00006/6 (GnomAD)
                          HGVS:
                          14.

                          rs1483405321 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,G [Show Flanks]
                            Chromosome:
                            X:49162995 (GRCh38)
                            X:49019333 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:49162994:C:A,NC_000023.11:49162994:C:G
                            Gene:
                            MAGIX (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            A=0.000048/5 (GnomAD)
                            HGVS:
                            15.

                            rs1483335463 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              X:49164075 (GRCh38)
                              X:49020413 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:49164074:C:T
                              Gene:
                              MAGIX (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000038/4 (GnomAD)
                              T=0.000053/14 (TOPMED)
                              HGVS:
                              16.

                              rs1481642783 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:49161473 (GRCh38)
                                X:49015106 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:49161472:C:T
                                Gene:
                                MAGIX (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000015/4 (TOPMED)
                                HGVS:
                                17.

                                rs1481207513 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  X:49167903 (GRCh38)
                                  X:49024242 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:49167902:T:C
                                  Gene:
                                  MAGIX (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000011/3 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1480983012 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    X:49166532 (GRCh38)
                                    X:49022871 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:49166531:T:G
                                    Gene:
                                    MAGIX (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000142/2 (ALFA)
                                    G=0.000019/5 (TOPMED)
                                    G=0.000029/3 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1480320935 has merged into rs146311189 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
                                      Chromosome:
                                      X:49168483 (GRCh38)
                                      X:49024822 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:49168467:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                      Gene:
                                      MAGIX (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAAAAAAAAAAAAAAA=0./0 (ALFA)
                                      HGVS:
                                      NC_000023.11:g.49168483_49168493del, NC_000023.11:g.49168484_49168493del, NC_000023.11:g.49168485_49168493del, NC_000023.11:g.49168486_49168493del, NC_000023.11:g.49168487_49168493del, NC_000023.11:g.49168489_49168493del, NC_000023.11:g.49168490_49168493del, NC_000023.11:g.49168491_49168493del, NC_000023.11:g.49168492_49168493del, NC_000023.11:g.49168493del, NC_000023.11:g.49168493dup, NC_000023.11:g.49168492_49168493dup, NC_000023.11:g.49168491_49168493dup, NC_000023.11:g.49168490_49168493dup, NC_000023.11:g.49168489_49168493dup, NW_004070880.2:g.1407912_1407922del, NW_004070880.2:g.1407913_1407922del, NW_004070880.2:g.1407914_1407922del, NW_004070880.2:g.1407915_1407922del, NW_004070880.2:g.1407916_1407922del, NW_004070880.2:g.1407918_1407922del, NW_004070880.2:g.1407919_1407922del, NW_004070880.2:g.1407920_1407922del, NW_004070880.2:g.1407921_1407922del, NW_004070880.2:g.1407922del, NW_004070880.2:g.1407922dup, NW_004070880.2:g.1407921_1407922dup, NW_004070880.2:g.1407920_1407922dup, NW_004070880.2:g.1407919_1407922dup, NW_004070880.2:g.1407918_1407922dup, NG_016420.2:g.1587_1597del, NG_016420.2:g.1588_1597del, NG_016420.2:g.1589_1597del, NG_016420.2:g.1590_1597del, NG_016420.2:g.1591_1597del, NG_016420.2:g.1593_1597del, NG_016420.2:g.1594_1597del, NG_016420.2:g.1595_1597del, NG_016420.2:g.1596_1597del, NG_016420.2:g.1597del, NG_016420.2:g.1597dup, NG_016420.2:g.1596_1597dup, NG_016420.2:g.1595_1597dup, NG_016420.2:g.1594_1597dup, NG_016420.2:g.1593_1597dup, NG_016420.1:g.1646_1647dup, NG_016420.1:g.1639_1647del, NG_016420.1:g.1640_1647del, NG_016420.1:g.1641_1647del, NG_016420.1:g.1642_1647del, NG_016420.1:g.1643_1647del, NG_016420.1:g.1645_1647del, NG_016420.1:g.1646_1647del, NG_016420.1:g.1647del, NG_016420.1:g.1647dup, NG_016420.1:g.1645_1647dup, NG_016420.1:g.1644_1647dup, NG_016420.1:g.1643_1647dup, NG_016420.1:g.1642_1647dup, NG_016420.1:g.1641_1647dup, NW_025791820.1:g.327434_327444del, NW_025791820.1:g.327435_327444del, NW_025791820.1:g.327436_327444del, NW_025791820.1:g.327437_327444del, NW_025791820.1:g.327438_327444del, NW_025791820.1:g.327440_327444del, NW_025791820.1:g.327441_327444del, NW_025791820.1:g.327442_327444del, NW_025791820.1:g.327443_327444del, NW_025791820.1:g.327444del, NW_025791820.1:g.327444dup, NW_025791820.1:g.327443_327444dup, NW_025791820.1:g.327442_327444dup, NW_025791820.1:g.327441_327444dup, NW_025791820.1:g.327440_327444dup, NC_000023.10:g.49024829_49024830dup, NC_000023.10:g.49024822_49024830del, NC_000023.10:g.49024823_49024830del, NC_000023.10:g.49024824_49024830del, NC_000023.10:g.49024825_49024830del, NC_000023.10:g.49024826_49024830del, NC_000023.10:g.49024828_49024830del, NC_000023.10:g.49024829_49024830del, NC_000023.10:g.49024830del, NC_000023.10:g.49024830dup, NC_000023.10:g.49024828_49024830dup, NC_000023.10:g.49024827_49024830dup, NC_000023.10:g.49024826_49024830dup, NC_000023.10:g.49024825_49024830dup, NC_000023.10:g.49024824_49024830dup, NM_024859.4:c.*2084_*2094del, NM_024859.4:c.*2085_*2094del, NM_024859.4:c.*2086_*2094del, NM_024859.4:c.*2087_*2094del, NM_024859.4:c.*2088_*2094del, NM_024859.4:c.*2090_*2094del, NM_024859.4:c.*2091_*2094del, NM_024859.4:c.*2092_*2094del, NM_024859.4:c.*2093_*2094del, NM_024859.4:c.*2094del, NM_024859.4:c.*2094dup, NM_024859.4:c.*2093_*2094dup, NM_024859.4:c.*2092_*2094dup, NM_024859.4:c.*2091_*2094dup, NM_024859.4:c.*2090_*2094dup, NM_001395401.1:c.*2084_*2094del, NM_001395401.1:c.*2085_*2094del, NM_001395401.1:c.*2086_*2094del, NM_001395401.1:c.*2087_*2094del, NM_001395401.1:c.*2088_*2094del, NM_001395401.1:c.*2090_*2094del, NM_001395401.1:c.*2091_*2094del, NM_001395401.1:c.*2092_*2094del, NM_001395401.1:c.*2093_*2094del, NM_001395401.1:c.*2094del, NM_001395401.1:c.*2094dup, NM_001395401.1:c.*2093_*2094dup, NM_001395401.1:c.*2092_*2094dup, NM_001395401.1:c.*2091_*2094dup, NM_001395401.1:c.*2090_*2094dup
                                      20.

                                      rs1480233195 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        X:49163322 (GRCh38)
                                        X:49019660 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:49163321:T:G
                                        Gene:
                                        MAGIX (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.00219/26 (ALFA)
                                        G=0.00111/24 (TOMMO)
                                        G=0.03857/110 (KOREAN)
                                        HGVS:

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