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Items: 1 to 20 of 2422

1.

rs1490724912 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    16:25141683 (GRCh38)
    16:25153004 (GRCh37)
    Canonical SPDI:
    NC_000016.10:25141682:T:C
    Gene:
    LCMT1 (Varview), LCMT1-AS2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000011/3 (TOPMED)
    C=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1490588529 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      16:25150113 (GRCh38)
      16:25161434 (GRCh37)
      Canonical SPDI:
      NC_000016.10:25150112:C:T
      Gene:
      LCMT1 (Varview), LCMT1-AS2 (Varview)
      Functional Consequence:
      2KB_upstream_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000014/2 (GnomAD)
      HGVS:
      3.

      rs1490445438 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        16:25149800 (GRCh38)
        16:25161121 (GRCh37)
        Canonical SPDI:
        NC_000016.10:25149799:C:G
        Gene:
        LCMT1 (Varview), LCMT1-AS2 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        HGVS:
        4.

        rs1489101309 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AA>- [Show Flanks]
          Chromosome:
          16:25150605 (GRCh38)
          16:25161926 (GRCh37)
          Canonical SPDI:
          NC_000016.10:25150603:AAA:A
          Gene:
          LCMT1 (Varview), LCMT1-AS2 (Varview)
          Functional Consequence:
          2KB_upstream_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          -=0.000008/2 (TOPMED)
          HGVS:
          5.

          rs1488103620 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            16:25144457 (GRCh38)
            16:25155778 (GRCh37)
            Canonical SPDI:
            NC_000016.10:25144456:G:T
            Gene:
            LCMT1 (Varview), LCMT1-AS2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (TOPMED)
            HGVS:
            6.

            rs1487870851 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              16:25145112 (GRCh38)
              16:25156433 (GRCh37)
              Canonical SPDI:
              NC_000016.10:25145111:G:A,NC_000016.10:25145111:G:T
              Gene:
              LCMT1 (Varview), LCMT1-AS2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000014/2 (GnomAD)
              T=0.000035/1 (TOMMO)
              HGVS:
              7.

              rs1487585980 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:25146061 (GRCh38)
                16:25157382 (GRCh37)
                Canonical SPDI:
                NC_000016.10:25146060:G:A
                Gene:
                LCMT1 (Varview), LCMT1-AS2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000019/5 (TOPMED)
                HGVS:
                8.

                rs1487551473 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  16:25143925 (GRCh38)
                  16:25155246 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:25143924:C:T
                  Gene:
                  LCMT1 (Varview), LCMT1-AS2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1487389282 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:25147413 (GRCh38)
                    16:25158734 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:25147412:G:A
                    Gene:
                    LCMT1 (Varview), LCMT1-AS2 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000021/3 (GnomAD)
                    A=0.00003/8 (TOPMED)
                    A=0.000035/1 (TOMMO)
                    HGVS:
                    10.

                    rs1486766557 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      16:25149677 (GRCh38)
                      16:25160998 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:25149676:G:A,NC_000016.10:25149676:G:T
                      Gene:
                      LCMT1 (Varview), LCMT1-AS2 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1486663507 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        16:25145318 (GRCh38)
                        16:25156639 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:25145317:A:G
                        Gene:
                        LCMT1 (Varview), LCMT1-AS2 (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:
                        12.

                        rs1486348169 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          16:25142071 (GRCh38)
                          16:25153392 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:25142070:A:C
                          Gene:
                          LCMT1 (Varview), LCMT1-AS2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          13.

                          rs1485783984 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:25145491 (GRCh38)
                            16:25156812 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:25145490:G:A
                            Gene:
                            LCMT1 (Varview), LCMT1-AS2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000021/3 (GnomAD)
                            HGVS:
                            14.

                            rs1485630701 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              16:25146902 (GRCh38)
                              16:25158223 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:25146901:C:T
                              Gene:
                              LCMT1 (Varview), LCMT1-AS2 (Varview)
                              Functional Consequence:
                              intron_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1485259992 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                16:25149260 (GRCh38)
                                16:25160581 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:25149259:T:C
                                Gene:
                                LCMT1 (Varview), LCMT1-AS2 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,intron_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000214/3 (ALFA)
                                C=0.000011/3 (TOPMED)
                                C=0.000021/3 (GnomAD)
                                HGVS:
                                16.

                                rs1485070354 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  16:25146921 (GRCh38)
                                  16:25158242 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:25146920:T:C
                                  Gene:
                                  LCMT1 (Varview), LCMT1-AS2 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1484905688 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AGAG>- [Show Flanks]
                                    Chromosome:
                                    16:25142080 (GRCh38)
                                    16:25153401 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:25142077:AGAGAG:AG
                                    Gene:
                                    LCMT1 (Varview), LCMT1-AS2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AG=0./0 (ALFA)
                                    -=0.000008/2 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1484136546 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      16:25140249 (GRCh38)
                                      16:25151570 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:25140248:T:G
                                      Gene:
                                      LCMT1 (Varview), LCMT1-AS2 (Varview)
                                      Functional Consequence:
                                      downstream_transcript_variant,splice_donor_variant,500B_downstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1483936105 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        16:25140614 (GRCh38)
                                        16:25151935 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:25140613:T:C
                                        Gene:
                                        LCMT1 (Varview), LCMT1-AS2 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1483568672 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          16:25148621 (GRCh38)
                                          16:25159942 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:25148620:A:C
                                          Gene:
                                          LCMT1 (Varview), LCMT1-AS2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000015/4 (TOPMED)
                                          HGVS:

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