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Items: 1 to 20 of 1000

1.

rs1491530529 has merged into rs1164023098 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TATATA>-,TA,TATA,TATATATA [Show Flanks]
    Chromosome:
    15:73580427 (GRCh38)
    15:73872768 (GRCh37)
    Canonical SPDI:
    NC_000015.10:73580421:ATATATATATA:ATATA,NC_000015.10:73580421:ATATATATATA:ATATATA,NC_000015.10:73580421:ATATATATATA:ATATATATA,NC_000015.10:73580421:ATATATATATA:ATATATATATATA
    Gene:
    NPTN (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    ATATATA=0./0 (ALFA)
    -=0.00135/22 (TOMMO)
    -=0.00296/5 (Korea1K)
    HGVS:
    2.

    rs1491512232 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      AA>- [Show Flanks]
      Chromosome:
      15:73580421 (GRCh38)
      15:73872762 (GRCh37)
      Canonical SPDI:
      NC_000015.10:73580420:AA:
      Gene:
      NPTN (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000077/8 (GnomAD)
      HGVS:
      3.

      rs1491508158 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        15:73607546 (GRCh38)
        15:73899888 (GRCh37)
        Canonical SPDI:
        NC_000015.10:73607546:TTTTTTT:TTTTTTTT
        Gene:
        NPTN (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTT=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        4.

        rs1491496787 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->A [Show Flanks]
          Chromosome:
          15:73580597 (GRCh38)
          15:73872939 (GRCh37)
          Canonical SPDI:
          NC_000015.10:73580597:A:AA
          Gene:
          NPTN (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AA=0./0 (ALFA)
          A=0.000038/10 (TOPMED)
          A=0.000039/4 (GnomAD)
          HGVS:
          5.

          rs1491494217 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->TATATATAT,TATATATATATTATATATAT,TATATATATTATATATAT [Show Flanks]
            Chromosome:
            15:73580422 (GRCh38)
            15:73872764 (GRCh37)
            Canonical SPDI:
            NC_000015.10:73580422:TATATATAT:TATATATATTATATATAT,NC_000015.10:73580422:TATATATAT:TATATATATTATATATATATTATATATAT,NC_000015.10:73580422:TATATATAT:TATATATATTATATATATTATATATAT
            Gene:
            NPTN (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TATATATATTATATATATATTATATATAT=0./0 (ALFA)
            TATATATATTATATATAT=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1491460641 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              GT>-
              Chromosome:
              no mapping
              Canonical SPDI:
              7.

              rs1491449789 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AT>- [Show Flanks]
                Chromosome:
                15:73559637 (GRCh38)
                15:73851978 (GRCh37)
                Canonical SPDI:
                NC_000015.10:73559636:AT:
                Gene:
                NPTN (Varview), REC114 (Varview)
                Functional Consequence:
                intron_variant,downstream_transcript_variant,500B_downstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000011/3 (TOPMED)
                -=0.000014/2 (GnomAD)
                HGVS:
                8.

                rs1491435344 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->TATATATATAATATATAT [Show Flanks]
                  Chromosome:
                  15:73580411 (GRCh38)
                  15:73872753 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:73580411:TATATATATAATATATAT:TATATATATAATATATATTATATATATAATATATAT
                  Gene:
                  NPTN (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  TATATATATAATATATATTATATATATAATATATAT=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491415330 has merged into rs10539085 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    15:73567013 (GRCh38)
                    15:73859354 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:73567002:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    NPTN (Varview), NPTN-IT1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTTT=0./0 (ALFA)
                    -=0.0828/319 (ALSPAC)
                    -=0.1931/967 (1000Genomes)
                    HGVS:
                    NC_000015.10:g.73567013_73567023del, NC_000015.10:g.73567015_73567023del, NC_000015.10:g.73567016_73567023del, NC_000015.10:g.73567017_73567023del, NC_000015.10:g.73567018_73567023del, NC_000015.10:g.73567019_73567023del, NC_000015.10:g.73567020_73567023del, NC_000015.10:g.73567021_73567023del, NC_000015.10:g.73567022_73567023del, NC_000015.10:g.73567023del, NC_000015.10:g.73567023dup, NC_000015.10:g.73567022_73567023dup, NC_000015.10:g.73567021_73567023dup, NC_000015.10:g.73567013_73567023dup, NC_000015.9:g.73859354_73859364del, NC_000015.9:g.73859356_73859364del, NC_000015.9:g.73859357_73859364del, NC_000015.9:g.73859358_73859364del, NC_000015.9:g.73859359_73859364del, NC_000015.9:g.73859360_73859364del, NC_000015.9:g.73859361_73859364del, NC_000015.9:g.73859362_73859364del, NC_000015.9:g.73859363_73859364del, NC_000015.9:g.73859364del, NC_000015.9:g.73859364dup, NC_000015.9:g.73859363_73859364dup, NC_000015.9:g.73859362_73859364dup, NC_000015.9:g.73859354_73859364dup, NR_103844.1:n.2531_2541del, NR_103844.1:n.2533_2541del, NR_103844.1:n.2534_2541del, NR_103844.1:n.2535_2541del, NR_103844.1:n.2536_2541del, NR_103844.1:n.2537_2541del, NR_103844.1:n.2538_2541del, NR_103844.1:n.2539_2541del, NR_103844.1:n.2540_2541del, NR_103844.1:n.2541del, NR_103844.1:n.2541dup, NR_103844.1:n.2540_2541dup, NR_103844.1:n.2539_2541dup, NR_103844.1:n.2531_2541dup
                    10.

                    rs1491402138 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CT>- [Show Flanks]
                      Chromosome:
                      15:73567002 (GRCh38)
                      15:73859343 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:73567001:CT:
                      Gene:
                      NPTN (Varview), NPTN-IT1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0.00008/1 (ALFA)
                      -=0.00004/4 (GnomAD)
                      HGVS:
                      11.

                      rs1491342329 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->T,TATATATATTATATATATAATATATATATT [Show Flanks]
                        Chromosome:
                        15:73580421 (GRCh38)
                        15:73872763 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:73580421::T,NC_000015.10:73580421::TATATATATTATATATATAATATATATATT
                        Gene:
                        NPTN (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.00004/1 (TOMMO)
                        HGVS:
                        12.

                        rs1491315196 has merged into rs77251246 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
                          Chromosome:
                          15:73605738 (GRCh38)
                          15:73898079 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:73605726:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:73605726:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:73605726:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:73605726:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:73605726:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:73605726:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
                          Gene:
                          NPTN (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAAAAAAAA=0./0 (ALFA)
                          -=0.2817/1411 (1000Genomes)
                          -=0.3706/209 (NorthernSweden)
                          A=0.475/19 (GENOME_DK)
                          -=0.4819/1787 (TWINSUK)
                          -=0.4896/1887 (ALSPAC)
                          HGVS:
                          13.

                          rs1491304368 has merged into rs112811114 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            15:73579288 (GRCh38)
                            15:73871629 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:73579277:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            NPTN (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAAAAAAA=0./0 (ALFA)
                            -=0.4406/252 (NorthernSweden)
                            HGVS:
                            14.

                            rs1491285783 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              15:73580410 (GRCh38)
                              15:73872752 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:73580410::T
                              Gene:
                              NPTN (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.00001/1 (GnomAD)
                              HGVS:
                              15.

                              rs1491283581 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TATA>-,TA,TATATA [Show Flanks]
                                Chromosome:
                                15:73580418 (GRCh38)
                                15:73872759 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:73580410:ATATATATATA:ATATATA,NC_000015.10:73580410:ATATATATATA:ATATATATA,NC_000015.10:73580410:ATATATATATA:ATATATATATATA
                                Gene:
                                NPTN (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                ATATATATA=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491267074 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AA>- [Show Flanks]
                                  Chromosome:
                                  15:73560150 (GRCh38)
                                  15:73852491 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:73560147:AAAA:AA
                                  Gene:
                                  NPTN (Varview), REC114 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAA=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491249039 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    AA>- [Show Flanks]
                                    Chromosome:
                                    15:73580441 (GRCh38)
                                    15:73872782 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:73580440:AA:
                                    Gene:
                                    NPTN (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.0006/41 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491190799 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      AA>- [Show Flanks]
                                      Chromosome:
                                      15:73580410 (GRCh38)
                                      15:73872751 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:73580409:AA:
                                      Gene:
                                      NPTN (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.00034/32 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1491157320 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->TATCATCAACCAGTAAATC [Show Flanks]
                                        Chromosome:
                                        15:73560148 (GRCh38)
                                        15:73852490 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:73560148:AAATCTATCATCAACCAGTAAATC:AAATCTATCATCAACCAGTAAATCTATCATCAACCAGTAAATC
                                        Gene:
                                        NPTN (Varview), REC114 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        AAATCTATCATCAACCAGTAAATCTATCATCAACCAGTAAATC=0./0 (ALFA)
                                        AAATCTATCATCAACCAGT=0.00005/7 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1491066382 has merged into rs55815192 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
                                          Chromosome:
                                          15:73584773 (GRCh38)
                                          15:73877114 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:73584764:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
                                          Gene:
                                          NPTN (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAA=0./0 (ALFA)
                                          HGVS:
                                          NC_000015.10:g.73584773_73584784del, NC_000015.10:g.73584777_73584784del, NC_000015.10:g.73584778_73584784del, NC_000015.10:g.73584779_73584784del, NC_000015.10:g.73584781_73584784del, NC_000015.10:g.73584782_73584784del, NC_000015.10:g.73584783_73584784del, NC_000015.10:g.73584784del, NC_000015.10:g.73584784dup, NC_000015.10:g.73584783_73584784dup, NC_000015.10:g.73584782_73584784dup, NC_000015.10:g.73584781_73584784dup, NC_000015.10:g.73584780_73584784dup, NC_000015.9:g.73877114_73877125del, NC_000015.9:g.73877118_73877125del, NC_000015.9:g.73877119_73877125del, NC_000015.9:g.73877120_73877125del, NC_000015.9:g.73877122_73877125del, NC_000015.9:g.73877123_73877125del, NC_000015.9:g.73877124_73877125del, NC_000015.9:g.73877125del, NC_000015.9:g.73877125dup, NC_000015.9:g.73877124_73877125dup, NC_000015.9:g.73877123_73877125dup, NC_000015.9:g.73877122_73877125dup, NC_000015.9:g.73877121_73877125dup

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