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Items: 1 to 20 of 1000

1.

rs1491553195 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    7:6606712 (GRCh38)
    7:6646344 (GRCh37)
    Canonical SPDI:
    NC_000007.14:6606712:C:CC
    Gene:
    INTS15 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    CC=0./0 (ALFA)
    C=0.000015/2 (GnomAD)
    HGVS:
    2.

    rs1491548149 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AT>- [Show Flanks]
      Chromosome:
      7:6608829 (GRCh38)
      7:6648460 (GRCh37)
      Canonical SPDI:
      NC_000007.14:6608827:TAT:T
      Gene:
      INTS15 (Varview)
      Functional Consequence:
      downstream_transcript_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.04645/551 (ALFA)
      -=0.00022/3 (TOMMO)
      -=0.04658/2273 (GnomAD)
      HGVS:
      3.

      rs1491454065 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        7:6606713 (GRCh38)
        7:6646344 (GRCh37)
        Canonical SPDI:
        NC_000007.14:6606711:TCT:T
        Gene:
        INTS15 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000337/4 (ALFA)
        -=0.000224/26 (GnomAD)
        HGVS:
        4.

        rs1491405020 has merged into rs71010904 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          7:6598797 (GRCh38)
          7:6638428 (GRCh37)
          Canonical SPDI:
          NC_000007.14:6598787:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:6598787:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:6598787:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:6598787:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:6598787:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:6598787:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:6598787:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:6598787:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
          Gene:
          INTS15 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTT=0./0 (ALFA)
          T=0.0101/4 (NorthernSweden)
          HGVS:
          5.

          rs1491227053 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->ATTTTTTTTTTTTTTTTTTTTT
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1491053931 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AG>- [Show Flanks]
              Chromosome:
              7:6592182 (GRCh38)
              7:6631813 (GRCh37)
              Canonical SPDI:
              NC_000007.14:6592179:AGAG:AG
              Gene:
              INTS15 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AGAG=0./0 (ALFA)
              -=0.000015/4 (TOPMED)
              -=0.000029/4 (GnomAD)
              HGVS:
              7.

              rs1491035435 has merged into rs533558064 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                7:6593339 (GRCh38)
                7:6632970 (GRCh37)
                Canonical SPDI:
                NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:6593329:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                INTS15 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTT=0./0 (ALFA)
                -=0.09804/491 (1000Genomes)
                -=0.3/12 (GENOME_DK)
                HGVS:
                NC_000007.14:g.6593339_6593348del, NC_000007.14:g.6593343_6593348del, NC_000007.14:g.6593344_6593348del, NC_000007.14:g.6593345_6593348del, NC_000007.14:g.6593346_6593348del, NC_000007.14:g.6593347_6593348del, NC_000007.14:g.6593348del, NC_000007.14:g.6593348dup, NC_000007.14:g.6593347_6593348dup, NC_000007.14:g.6593346_6593348dup, NC_000007.14:g.6593345_6593348dup, NC_000007.14:g.6593344_6593348dup, NC_000007.14:g.6593343_6593348dup, NC_000007.14:g.6593342_6593348dup, NC_000007.14:g.6593341_6593348dup, NC_000007.14:g.6593340_6593348dup, NC_000007.13:g.6632970_6632979del, NC_000007.13:g.6632974_6632979del, NC_000007.13:g.6632975_6632979del, NC_000007.13:g.6632976_6632979del, NC_000007.13:g.6632977_6632979del, NC_000007.13:g.6632978_6632979del, NC_000007.13:g.6632979del, NC_000007.13:g.6632979dup, NC_000007.13:g.6632978_6632979dup, NC_000007.13:g.6632977_6632979dup, NC_000007.13:g.6632976_6632979dup, NC_000007.13:g.6632975_6632979dup, NC_000007.13:g.6632974_6632979dup, NC_000007.13:g.6632973_6632979dup, NC_000007.13:g.6632972_6632979dup, NC_000007.13:g.6632971_6632979dup
                8.

                rs1491021813 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AT>- [Show Flanks]
                  Chromosome:
                  7:6598787 (GRCh38)
                  7:6638418 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:6598785:TAT:T
                  Gene:
                  INTS15 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490840296 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    7:6607001 (GRCh38)
                    7:6646632 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:6607000:G:C
                    Gene:
                    INTS15 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.00003/8 (TOPMED)
                    HGVS:
                    10.

                    rs1490777827 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      7:6603283 (GRCh38)
                      7:6642914 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:6603282:C:A,NC_000007.14:6603282:C:T
                      Gene:
                      INTS15 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      C=0.5/1 (SGDP_PRJ)
                      HGVS:
                      11.

                      rs1490115051 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        AAG>- [Show Flanks]
                        Chromosome:
                        7:6602297 (GRCh38)
                        7:6641928 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:6602296:AAG:
                        Gene:
                        INTS15 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489963650 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CTTG>- [Show Flanks]
                          Chromosome:
                          7:6589076 (GRCh38)
                          7:6628707 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:6589071:CTTGCTTG:CTTG
                          Gene:
                          ZDHHC4 (Varview), INTS15 (Varview), LOC124901582 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          CTTGCTTG=0./0 (ALFA)
                          -=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1489952842 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            7:6601895 (GRCh38)
                            7:6641526 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:6601894:G:A
                            Gene:
                            INTS15 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            14.

                            rs1489806484 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              7:6588724 (GRCh38)
                              7:6628355 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:6588723:C:G
                              Gene:
                              ZDHHC4 (Varview), INTS15 (Varview), LOC124901582 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              15.

                              rs1489654930 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                7:6594997 (GRCh38)
                                7:6634628 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:6594996:G:A
                                Gene:
                                INTS15 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                16.

                                rs1489526824 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  7:6607365 (GRCh38)
                                  7:6646996 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:6607364:G:A
                                  Gene:
                                  INTS15 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000066/1 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000223/1 (Estonian)
                                  HGVS:
                                  17.

                                  rs1489511074 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    7:6602317 (GRCh38)
                                    7:6641948 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:6602316:A:G
                                    Gene:
                                    INTS15 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000021/3 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1489468072 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      7:6605899 (GRCh38)
                                      7:6645530 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:6605898:A:G
                                      Gene:
                                      INTS15 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489431763 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        7:6588771 (GRCh38)
                                        7:6628402 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:6588770:A:C,NC_000007.14:6588770:A:G
                                        Gene:
                                        ZDHHC4 (Varview), INTS15 (Varview), LOC124901582 (Varview)
                                        Functional Consequence:
                                        downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,3_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000014/2 (GnomAD)
                                        G=0.000546/1 (Korea1K)
                                        HGVS:
                                        NC_000007.14:g.6588771A>C, NC_000007.14:g.6588771A>G, NC_000007.13:g.6628402A>C, NC_000007.13:g.6628402A>G, XM_005249796.4:c.896A>C, XM_005249796.4:c.896A>G, XM_005249796.3:c.896A>C, XM_005249796.3:c.896A>G, XM_005249796.2:c.896A>C, XM_005249796.2:c.896A>G, XM_005249796.1:c.896A>C, XM_005249796.1:c.896A>G, NM_018106.4:c.896A>C, NM_018106.4:c.896A>G, NM_018106.3:c.896A>C, NM_018106.3:c.896A>G, NM_001134387.2:c.896A>C, NM_001134387.2:c.896A>G, NM_001134387.1:c.896A>C, NM_001134387.1:c.896A>G, NM_001134388.2:c.896A>C, NM_001134388.2:c.896A>G, NM_001134388.1:c.896A>C, NM_001134388.1:c.896A>G, NM_001134389.2:c.896A>C, NM_001134389.2:c.896A>G, NM_001134389.1:c.896A>C, NM_001134389.1:c.896A>G, XM_047420565.1:c.896A>C, XM_047420565.1:c.896A>G, XM_047420564.1:c.896A>C, XM_047420564.1:c.896A>G, NR_163912.1:n.1460A>C, NR_163912.1:n.1460A>G, XM_047420566.1:c.836A>C, XM_047420566.1:c.836A>G, XM_047420567.1:c.836A>C, XM_047420567.1:c.836A>G, NM_001371297.1:c.896A>C, NM_001371297.1:c.896A>G, NM_001371299.1:c.*268A>C, NM_001371299.1:c.*268A>G, NM_001371294.1:c.896A>C, NM_001371294.1:c.896A>G, NM_001371295.1:c.896A>C, NM_001371295.1:c.896A>G, NR_163913.1:n.1242A>C, NR_163913.1:n.1242A>G, NM_001371292.1:c.941A>C, NM_001371292.1:c.941A>G, NM_001371296.1:c.896A>C, NM_001371296.1:c.896A>G, NM_001371298.1:c.836A>C, NM_001371298.1:c.836A>G, NM_001371293.1:c.896A>C, NM_001371293.1:c.896A>G, XP_005249853.1:p.Gln299Pro, XP_005249853.1:p.Gln299Arg, NP_060576.1:p.Gln299Pro, NP_060576.1:p.Gln299Arg, NP_001127859.1:p.Gln299Pro, NP_001127859.1:p.Gln299Arg, NP_001127860.1:p.Gln299Pro, NP_001127860.1:p.Gln299Arg, NP_001127861.1:p.Gln299Pro, NP_001127861.1:p.Gln299Arg, XP_047276521.1:p.Gln299Pro, XP_047276521.1:p.Gln299Arg, XP_047276520.1:p.Gln299Pro, XP_047276520.1:p.Gln299Arg, XP_047276522.1:p.Gln279Pro, XP_047276522.1:p.Gln279Arg, XP_047276523.1:p.Gln279Pro, XP_047276523.1:p.Gln279Arg, NP_001358226.1:p.Gln299Pro, NP_001358226.1:p.Gln299Arg, NP_001358223.1:p.Gln299Pro, NP_001358223.1:p.Gln299Arg, NP_001358224.1:p.Gln299Pro, NP_001358224.1:p.Gln299Arg, NP_001358221.1:p.Gln314Pro, NP_001358221.1:p.Gln314Arg, NP_001358225.1:p.Gln299Pro, NP_001358225.1:p.Gln299Arg, NP_001358227.1:p.Gln279Pro, NP_001358227.1:p.Gln279Arg, NP_001358222.1:p.Gln299Pro, NP_001358222.1:p.Gln299Arg
                                        20.

                                        rs1489325763 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          T>-,TT [Show Flanks]
                                          Chromosome:
                                          7:6605298 (GRCh38)
                                          7:6644929 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:6605297:TTTTTTT:TTTTTT,NC_000007.14:6605297:TTTTTTT:TTTTTTTT
                                          Gene:
                                          INTS15 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTTTTTT=0./0 (ALFA)
                                          -=0.000014/2 (GnomAD)
                                          HGVS:

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