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Items: 1 to 20 of 7059

1.

rs1491539645 has merged into rs67522937 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CACACACACACACACACACACACACA>-,CA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA [Show Flanks]
    Chromosome:
    X:120438707 (GRCh38)
    X:119572562 (GRCh37)
    Canonical SPDI:
    NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:120438692:CACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA
    Gene:
    LAMP2 (Varview)
    Functional Consequence:
    intron_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CACACACACACACA=0./0 (ALFA)
    CACA=0.00848/32 (1000Genomes)
    -=0.13534/391 (ALSPAC)
    HGVS:
    NC_000023.11:g.120438693CA[7], NC_000023.11:g.120438693CA[8], NC_000023.11:g.120438693CA[11], NC_000023.11:g.120438693CA[12], NC_000023.11:g.120438693CA[13], NC_000023.11:g.120438693CA[14], NC_000023.11:g.120438693CA[15], NC_000023.11:g.120438693CA[16], NC_000023.11:g.120438693CA[17], NC_000023.11:g.120438693CA[18], NC_000023.11:g.120438693CA[19], NC_000023.11:g.120438693CA[21], NC_000023.11:g.120438693CA[22], NC_000023.11:g.120438693CA[23], NC_000023.11:g.120438693CA[24], NC_000023.11:g.120438693CA[25], NC_000023.11:g.120438693CA[26], NC_000023.10:g.119572548CA[7], NC_000023.10:g.119572548CA[8], NC_000023.10:g.119572548CA[11], NC_000023.10:g.119572548CA[12], NC_000023.10:g.119572548CA[13], NC_000023.10:g.119572548CA[14], NC_000023.10:g.119572548CA[15], NC_000023.10:g.119572548CA[16], NC_000023.10:g.119572548CA[17], NC_000023.10:g.119572548CA[18], NC_000023.10:g.119572548CA[19], NC_000023.10:g.119572548CA[21], NC_000023.10:g.119572548CA[22], NC_000023.10:g.119572548CA[23], NC_000023.10:g.119572548CA[24], NC_000023.10:g.119572548CA[25], NC_000023.10:g.119572548CA[26], NG_007995.1:g.35618TG[7], NG_007995.1:g.35618TG[8], NG_007995.1:g.35618TG[11], NG_007995.1:g.35618TG[12], NG_007995.1:g.35618TG[13], NG_007995.1:g.35618TG[14], NG_007995.1:g.35618TG[15], NG_007995.1:g.35618TG[16], NG_007995.1:g.35618TG[17], NG_007995.1:g.35618TG[18], NG_007995.1:g.35618TG[19], NG_007995.1:g.35618TG[21], NG_007995.1:g.35618TG[22], NG_007995.1:g.35618TG[23], NG_007995.1:g.35618TG[24], NG_007995.1:g.35618TG[25], NG_007995.1:g.35618TG[26], NM_013995.2:c.*422TG[7], NM_013995.2:c.*422TG[8], NM_013995.2:c.*422TG[11], NM_013995.2:c.*422TG[12], NM_013995.2:c.*422TG[13], NM_013995.2:c.*422TG[14], NM_013995.2:c.*422TG[15], NM_013995.2:c.*422TG[16], NM_013995.2:c.*422TG[17], NM_013995.2:c.*422TG[18], NM_013995.2:c.*422TG[19], NM_013995.2:c.*422TG[21], NM_013995.2:c.*422TG[22], NM_013995.2:c.*422TG[23], NM_013995.2:c.*422TG[24], NM_013995.2:c.*422TG[25], NM_013995.2:c.*422TG[26]
    2.

    rs1491489878 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TATATA>-,TATATATA [Show Flanks]
      Chromosome:
      X:120450930 (GRCh38)
      X:119584785 (GRCh37)
      Canonical SPDI:
      NC_000023.11:120450923:TATATATATATA:TATATA,NC_000023.11:120450923:TATATATATATA:TATATATATATATA
      Gene:
      LAMP2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TATATATATATATA=0./0 (ALFA)
      TA=0.00002/2 (GnomAD)
      HGVS:
      3.

      rs1491425301 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TC>- [Show Flanks]
        Chromosome:
        X:120438692 (GRCh38)
        X:119572547 (GRCh37)
        Canonical SPDI:
        NC_000023.11:120438691:TC:
        Gene:
        LAMP2 (Varview)
        Functional Consequence:
        intron_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.00073/16 (TOMMO)
        HGVS:
        4.

        rs1491400358 has merged into rs60129285 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
          Chromosome:
          X:120432942 (GRCh38)
          X:119566797 (GRCh37)
          Canonical SPDI:
          NC_000023.11:120432928:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:120432928:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:120432928:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:120432928:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:120432928:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
          Gene:
          LAMP2 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAA=0.00019/2 (ALFA)
          -=0.45/18 (GENOME_DK)
          HGVS:
          5.

          rs1491306564 has merged into rs916102893 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            X:120466850 (GRCh38)
            X:119600705 (GRCh37)
            Canonical SPDI:
            NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:120466840:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            LAMP2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTT=0./0 (ALFA)
            -=0.000359/95 (TOPMED)
            HGVS:
            NC_000023.11:g.120466850_120466859del, NC_000023.11:g.120466851_120466859del, NC_000023.11:g.120466852_120466859del, NC_000023.11:g.120466854_120466859del, NC_000023.11:g.120466855_120466859del, NC_000023.11:g.120466856_120466859del, NC_000023.11:g.120466857_120466859del, NC_000023.11:g.120466858_120466859del, NC_000023.11:g.120466859del, NC_000023.11:g.120466859dup, NC_000023.11:g.120466858_120466859dup, NC_000023.11:g.120466857_120466859dup, NC_000023.11:g.120466856_120466859dup, NC_000023.10:g.119600705_119600714del, NC_000023.10:g.119600706_119600714del, NC_000023.10:g.119600707_119600714del, NC_000023.10:g.119600709_119600714del, NC_000023.10:g.119600710_119600714del, NC_000023.10:g.119600711_119600714del, NC_000023.10:g.119600712_119600714del, NC_000023.10:g.119600713_119600714del, NC_000023.10:g.119600714del, NC_000023.10:g.119600714dup, NC_000023.10:g.119600713_119600714dup, NC_000023.10:g.119600712_119600714dup, NC_000023.10:g.119600711_119600714dup, NG_007995.1:g.7500_7509del, NG_007995.1:g.7501_7509del, NG_007995.1:g.7502_7509del, NG_007995.1:g.7504_7509del, NG_007995.1:g.7505_7509del, NG_007995.1:g.7506_7509del, NG_007995.1:g.7507_7509del, NG_007995.1:g.7508_7509del, NG_007995.1:g.7509del, NG_007995.1:g.7509dup, NG_007995.1:g.7508_7509dup, NG_007995.1:g.7507_7509dup, NG_007995.1:g.7506_7509dup
            6.

            rs1491236612 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GT>- [Show Flanks]
              Chromosome:
              X:120452735 (GRCh38)
              X:119586590 (GRCh37)
              Canonical SPDI:
              NC_000023.11:120452733:TGT:T
              Gene:
              LAMP2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.00017/2 (ALFA)
              HGVS:
              7.

              rs1491192330 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                X:120452734 (GRCh38)
                X:119586590 (GRCh37)
                Canonical SPDI:
                NC_000023.11:120452734:G:GG
                Gene:
                LAMP2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                GG=0./0 (ALFA)
                HGVS:
                8.

                rs1490821826 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  X:120442403 (GRCh38)
                  X:119576258 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:120442402:T:C
                  Gene:
                  LAMP2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  9.

                  rs1490448572 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    X:120431023 (GRCh38)
                    X:119564878 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:120431022:T:A
                    Gene:
                    LAMP2 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.00001/1 (GnomAD)
                    A=0.000015/4 (TOPMED)
                    HGVS:
                    10.

                    rs1490441376 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      G>- [Show Flanks]
                      Chromosome:
                      X:120452735 (GRCh38)
                      X:119586590 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:120452734:G:
                      Gene:
                      LAMP2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.00132/104 (GnomAD)
                      -=0.00244/31 (TOMMO)
                      HGVS:
                      11.

                      rs1490425149 has merged into rs34279521 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
                        Chromosome:
                        X:120454241 (GRCh38)
                        X:119588096 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:120454227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:120454227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:120454227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:120454227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:120454227:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
                        Gene:
                        LAMP2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAAAAA=0.0002/2 (ALFA)
                        -=0.3793/1432 (1000Genomes)
                        -=0.3943/1139 (ALSPAC)
                        -=0.4132/1532 (TWINSUK)
                        HGVS:
                        12.

                        rs1490382617 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          X:120444120 (GRCh38)
                          X:119577975 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:120444119:G:A
                          Gene:
                          LAMP2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.00001/1 (GnomAD)
                          HGVS:
                          13.

                          rs1490274235 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            X:120452303 (GRCh38)
                            X:119586158 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:120452302:T:C
                            Gene:
                            LAMP2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1490074313 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              X:120440320 (GRCh38)
                              X:119574175 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:120440319:G:A
                              Gene:
                              LAMP2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000019/2 (GnomAD)
                              A=0.000019/5 (TOPMED)
                              HGVS:
                              15.

                              rs1490036234 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:120464586 (GRCh38)
                                X:119598441 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:120464585:C:T
                                Gene:
                                LAMP2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490016426 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  X:120470336 (GRCh38)
                                  X:119604191 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:120470335:G:A,NC_000023.11:120470335:G:T
                                  Gene:
                                  LAMP2 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.00001/1 (GnomAD)
                                  T=0.001369/4 (KOREAN)
                                  HGVS:
                                  17.

                                  rs1489896543 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:120441165 (GRCh38)
                                    X:119575020 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:120441164:T:C
                                    Gene:
                                    LAMP2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000011/3 (TOPMED)
                                    C=0.000013/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489802659 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      X:120465305 (GRCh38)
                                      X:119599160 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:120465304:T:A
                                      Gene:
                                      LAMP2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.00014/3 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1489731000 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        X:120427315 (GRCh38)
                                        X:119561170 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:120427314:C:T
                                        Gene:
                                        LAMP2 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.00001/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1489601715 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AT>- [Show Flanks]
                                          Chromosome:
                                          X:120439630 (GRCh38)
                                          X:119573485 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:120439625:ATATAT:ATAT
                                          Gene:
                                          LAMP2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          ATAT=0./0 (ALFA)
                                          -=0.000004/1 (TOPMED)
                                          HGVS:

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