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Items: 1 to 20 of 6506

1.

rs1491479689 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A,AA,AAA [Show Flanks]
    Chromosome:
    13:60695797 (GRCh38)
    13:61269932 (GRCh37)
    Canonical SPDI:
    NC_000013.11:60695797::A,NC_000013.11:60695797::AA,NC_000013.11:60695797::AAA
    Gene:
    LINC00378 (Varview)
    Functional Consequence:
    non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AA=0./0 (ALFA)
    AA=0.00111/2 (Korea1K)
    AA=0.00857/299 (GnomAD)
    HGVS:
    2.

    rs1491449295 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      13:60675057 (GRCh38)
      13:61249192 (GRCh37)
      Canonical SPDI:
      NC_000013.11:60675057:C:CC
      Gene:
      LINC00378 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CC=0.005145/23 (ALFA)
      C=0.002816/395 (GnomAD)
      C=0.005134/23 (Estonian)
      HGVS:
      3.

      rs1491385564 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GC>- [Show Flanks]
        Chromosome:
        13:60695797 (GRCh38)
        13:61269931 (GRCh37)
        Canonical SPDI:
        NC_000013.11:60695796:GC:
        Gene:
        LINC00378 (Varview)
        Functional Consequence:
        non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0./0 (ALFA)
        -=0.00021/4 (TOMMO)
        HGVS:
        4.

        rs1491326914 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->CACGTATA,CATGTATA,CATGTATATATACACATATACACACGTATA,CATGTATATATACACATATACACATATACATGTATA,CATGTATATATACACATATACACATATACATGTCTATATACACATATACACCTATA,CATGTATATATACACATATACACGTATA,CGTATA [Show Flanks]
          Chromosome:
          13:60681618 (GRCh38)
          13:61255753 (GRCh37)
          Canonical SPDI:
          NC_000013.11:60681618:TATA:TATACACGTATA,NC_000013.11:60681618:TATA:TATACATGTATA,NC_000013.11:60681618:TATA:TATACATGTATATATACACATATACACACGTATA,NC_000013.11:60681618:TATA:TATACATGTATATATACACATATACACATATACATGTATA,NC_000013.11:60681618:TATA:TATACATGTATATATACACATATACACATATACATGTCTATATACACATATACACCTATA,NC_000013.11:60681618:TATA:TATACATGTATATATACACATATACACGTATA,NC_000013.11:60681618:TATA:TATACGTATA
          Gene:
          LINC00378 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TATACATGTATA=0./0 (ALFA)
          TATACATG=0.00011/3 (TOMMO)
          HGVS:
          NC_000013.11:g.60681619_60681622TA[2]CACGTATA[1], NC_000013.11:g.60681619_60681622TA[2]CATGTATA[1], NC_000013.11:g.60681619_60681622TA[2]CATGTATATATACACATATACACACGTATA[1], NC_000013.11:g.60681619_60681622TA[2]CATGTATATATACACATATACACATATACATGTATA[1], NC_000013.11:g.60681619_60681622TA[2]CATGTATATATACACATATACACATATACATGTCTATATACACATATACACCTATA[1], NC_000013.11:g.60681619_60681622TA[2]CATGTATATATACACATATACACGTATA[1], NC_000013.11:g.60681619_60681622TA[2]CGTATA[1], NC_000013.10:g.61255753_61255756TA[2]CACGTATA[1], NC_000013.10:g.61255753_61255756TA[2]CATGTATA[1], NC_000013.10:g.61255753_61255756TA[2]CATGTATATATACACATATACACACGTATA[1], NC_000013.10:g.61255753_61255756TA[2]CATGTATATATACACATATACACATATACATGTATA[1], NC_000013.10:g.61255753_61255756TA[2]CATGTATATATACACATATACACATATACATGTCTATATACACATATACACCTATA[1], NC_000013.10:g.61255753_61255756TA[2]CATGTATATATACACATATACACGTATA[1], NC_000013.10:g.61255753_61255756TA[2]CGTATA[1]
          5.

          rs1491228124 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            13:60680822 (GRCh38)
            13:61254957 (GRCh37)
            Canonical SPDI:
            NC_000013.11:60680822::G
            Gene:
            LINC00378 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            6.

            rs1491222805 has merged into rs3048771 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
              Chromosome:
              13:60671219 (GRCh38)
              13:61245353 (GRCh37)
              Canonical SPDI:
              NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:60671207:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
              Gene:
              LINC00378 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAAAAA=0./0 (ALFA)
              -=0.375/15 (GENOME_DK)
              AAA=0.4105/2056 (1000Genomes)
              HGVS:
              7.

              rs1491197968 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                AT>- [Show Flanks]
                Chromosome:
                13:60681596 (GRCh38)
                13:61255730 (GRCh37)
                Canonical SPDI:
                NC_000013.11:60681595:AT:
                Gene:
                LINC00378 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00017/2 (ALFA)
                HGVS:
                8.

                rs1491131068 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TA>- [Show Flanks]
                  Chromosome:
                  13:60671207 (GRCh38)
                  13:61245341 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:60671206:TA:
                  Gene:
                  LINC00378 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00008/1 (ALFA)
                  -=0.00002/2 (GnomAD)
                  HGVS:
                  9.

                  rs1491119915 has merged into rs5804007 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    13:60695202 (GRCh38)
                    13:61269336 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTT,NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:60695196:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    LINC00378 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTTTTTTT=0./0 (ALFA)
                    -=0.2548/1276 (1000Genomes)
                    HGVS:
                    10.

                    rs1491055140 has merged into rs34007540 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      13:60695811 (GRCh38)
                      13:61269945 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:60695798:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      LINC00378 (Varview)
                      Functional Consequence:
                      500B_downstream_variant,non_coding_transcript_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAAA=0./0 (ALFA)
                      -=0.2752/1378 (1000Genomes)
                      HGVS:
                      NC_000013.11:g.60695811_60695814del, NC_000013.11:g.60695812_60695814del, NC_000013.11:g.60695813_60695814del, NC_000013.11:g.60695814del, NC_000013.11:g.60695814dup, NC_000013.11:g.60695813_60695814dup, NC_000013.11:g.60695812_60695814dup, NC_000013.11:g.60695811_60695814dup, NC_000013.11:g.60695807_60695814dup, NC_000013.11:g.60695806_60695814dup, NC_000013.11:g.60695804_60695814dup, NC_000013.11:g.60695803_60695814dup, NC_000013.11:g.60695814_60695815insAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.61269945_61269948del, NC_000013.10:g.61269946_61269948del, NC_000013.10:g.61269947_61269948del, NC_000013.10:g.61269948del, NC_000013.10:g.61269948dup, NC_000013.10:g.61269947_61269948dup, NC_000013.10:g.61269946_61269948dup, NC_000013.10:g.61269945_61269948dup, NC_000013.10:g.61269941_61269948dup, NC_000013.10:g.61269940_61269948dup, NC_000013.10:g.61269938_61269948dup, NC_000013.10:g.61269937_61269948dup, NC_000013.10:g.61269948_61269949insAAAAAAAAAAAAAAAAAAAAAAA
                      11.

                      rs1490978727 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GCACAT>- [Show Flanks]
                        Chromosome:
                        13:60681460 (GRCh38)
                        13:61255594 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:60681449:ACATGCACATGCACAT:ACATGCACAT
                        Gene:
                        LINC00378 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        ACATGCACAT=0./0 (ALFA)
                        -=0.000014/2 (GnomAD)
                        -=0.000026/7 (TOPMED)
                        HGVS:
                        12.

                        rs1490885601 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          13:60686471 (GRCh38)
                          13:61260605 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:60686470:C:T
                          Gene:
                          LINC00378 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000142/2 (ALFA)
                          T=0.000026/7 (TOPMED)
                          HGVS:
                          13.

                          rs1490827518 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            13:60673891 (GRCh38)
                            13:61248025 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:60673890:A:T
                            Gene:
                            LINC00378 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1490792086 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              13:60672993 (GRCh38)
                              13:61247127 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:60672992:A:T
                              Gene:
                              LINC00378 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000015/4 (TOPMED)
                              T=0.000029/4 (GnomAD)
                              HGVS:
                              15.

                              rs1490648223 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                13:60674367 (GRCh38)
                                13:61248501 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:60674366:G:C
                                Gene:
                                LINC00378 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490486216 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  13:60681898 (GRCh38)
                                  13:61256032 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:60681897:A:G
                                  Gene:
                                  LINC00378 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490457886 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    13:60692701 (GRCh38)
                                    13:61266835 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:60692700:G:A,NC_000013.11:60692700:G:T
                                    Gene:
                                    LINC00378 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000106/2 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1490445834 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      13:60680621 (GRCh38)
                                      13:61254755 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:60680620:C:T
                                      Gene:
                                      LINC00378 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000021/3 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490430141 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        13:60679829 (GRCh38)
                                        13:61253963 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:60679828:A:G
                                        Gene:
                                        LINC00378 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490416162 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          13:60684263 (GRCh38)
                                          13:61258397 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:60684262:C:T
                                          Gene:
                                          LINC00378 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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