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Items: 1 to 20 of 1000

1.

rs1491550575 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->CATA [Show Flanks]
    Chromosome:
    16:75442632 (GRCh38)
    16:75476531 (GRCh37)
    Canonical SPDI:
    NC_000016.10:75442632:ATA:ATACATA
    Gene:
    TMEM170A (Varview)
    Functional Consequence:
    500B_downstream_variant,downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    ATACATA=0./0 (ALFA)
    HGVS:
    2.

    rs1491363719 has merged into rs34044750 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      16:75450190 (GRCh38)
      16:75484088 (GRCh37)
      Canonical SPDI:
      NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75450180:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      TMEM170A (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAA=0./0 (ALFA)
      A=0.3948/1977 (1000Genomes)
      HGVS:
      NC_000016.10:g.75450190_75450198del, NC_000016.10:g.75450193_75450198del, NC_000016.10:g.75450195_75450198del, NC_000016.10:g.75450196_75450198del, NC_000016.10:g.75450197_75450198del, NC_000016.10:g.75450198del, NC_000016.10:g.75450198dup, NC_000016.10:g.75450197_75450198dup, NC_000016.10:g.75450196_75450198dup, NC_000016.10:g.75450194_75450198dup, NC_000016.10:g.75450189_75450198dup, NC_000016.10:g.75450185_75450198dup, NC_000016.10:g.75450181_75450198A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.75484088_75484096del, NC_000016.9:g.75484091_75484096del, NC_000016.9:g.75484093_75484096del, NC_000016.9:g.75484094_75484096del, NC_000016.9:g.75484095_75484096del, NC_000016.9:g.75484096del, NC_000016.9:g.75484096dup, NC_000016.9:g.75484095_75484096dup, NC_000016.9:g.75484094_75484096dup, NC_000016.9:g.75484092_75484096dup, NC_000016.9:g.75484087_75484096dup, NC_000016.9:g.75484083_75484096dup, NC_000016.9:g.75484079_75484096A[25]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
      3.

      rs1491338856 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        16:75450180 (GRCh38)
        16:75484078 (GRCh37)
        Canonical SPDI:
        NC_000016.10:75450179:CA:
        Gene:
        TMEM170A (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        -=0.00008/1 (ALFA)
        -=0.00017/11 (GnomAD)
        HGVS:
        4.

        rs1491280408 has merged into rs59205915 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          16:75455370 (GRCh38)
          16:75489268 (GRCh37)
          Canonical SPDI:
          NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75455356:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          TMEM170A (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAAA=0./0 (ALFA)
          A=0.4768/2388 (1000Genomes)
          HGVS:
          NC_000016.10:g.75455370_75455373del, NC_000016.10:g.75455371_75455373del, NC_000016.10:g.75455372_75455373del, NC_000016.10:g.75455373del, NC_000016.10:g.75455373dup, NC_000016.10:g.75455372_75455373dup, NC_000016.10:g.75455371_75455373dup, NC_000016.10:g.75455370_75455373dup, NC_000016.10:g.75455369_75455373dup, NC_000016.10:g.75455368_75455373dup, NC_000016.10:g.75455367_75455373dup, NC_000016.10:g.75455366_75455373dup, NC_000016.10:g.75455362_75455373dup, NC_000016.10:g.75455358_75455373dup, NC_000016.9:g.75489268_75489271del, NC_000016.9:g.75489269_75489271del, NC_000016.9:g.75489270_75489271del, NC_000016.9:g.75489271del, NC_000016.9:g.75489271dup, NC_000016.9:g.75489270_75489271dup, NC_000016.9:g.75489269_75489271dup, NC_000016.9:g.75489268_75489271dup, NC_000016.9:g.75489267_75489271dup, NC_000016.9:g.75489266_75489271dup, NC_000016.9:g.75489265_75489271dup, NC_000016.9:g.75489264_75489271dup, NC_000016.9:g.75489260_75489271dup, NC_000016.9:g.75489256_75489271dup
          5.

          rs1491024180 has merged into rs10680885 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            16:75449343 (GRCh38)
            16:75483241 (GRCh37)
            Canonical SPDI:
            NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75449331:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            TMEM170A (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTT=0./0 (ALFA)
            -=0.175/7 (GENOME_DK)
            -=0.3145/1575 (1000Genomes)
            HGVS:
            6.

            rs1490956055 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:75448931 (GRCh38)
              16:75482829 (GRCh37)
              Canonical SPDI:
              NC_000016.10:75448930:C:T
              Gene:
              TMEM170A (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              7.

              rs1490939897 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:75459973 (GRCh38)
                16:75493871 (GRCh37)
                Canonical SPDI:
                NC_000016.10:75459972:G:A
                Gene:
                TMEM170A (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                8.

                rs1490516981 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  16:75454737 (GRCh38)
                  16:75488635 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:75454736:T:C
                  Gene:
                  TMEM170A (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:
                  9.

                  rs1490394639 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    16:75453070 (GRCh38)
                    16:75486968 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:75453069:G:C
                    Gene:
                    TMEM170A (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490186755 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      16:75455305 (GRCh38)
                      16:75489203 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:75455304:C:A,NC_000016.10:75455304:C:T
                      Gene:
                      TMEM170A (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      T=0.000008/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490176577 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        16:75460369 (GRCh38)
                        16:75494267 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:75460368:T:G
                        Gene:
                        TMEM170A (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.

                        rs1490021045 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          16:75457318 (GRCh38)
                          16:75491216 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:75457317:G:C
                          Gene:
                          TMEM170A (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000011/3 (TOPMED)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          13.

                          rs1489697330 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            16:75466298 (GRCh38)
                            16:75500196 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:75466297:T:A
                            Gene:
                            TMEM170A (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.00012/2 (TOMMO)
                            HGVS:
                            14.

                            rs1489490435 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              16:75451733 (GRCh38)
                              16:75485631 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:75451732:C:A,NC_000016.10:75451732:C:G,NC_000016.10:75451732:C:T
                              Gene:
                              TMEM170A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000016.10:g.75451733C>A, NC_000016.10:g.75451733C>G, NC_000016.10:g.75451733C>T, NC_000016.9:g.75485631C>A, NC_000016.9:g.75485631C>G, NC_000016.9:g.75485631C>T, XM_011522869.3:c.213G>T, XM_011522869.3:c.213G>C, XM_011522869.3:c.213G>A, XM_011522869.2:c.213G>T, XM_011522869.2:c.213G>C, XM_011522869.2:c.213G>A, XM_011522869.1:c.213G>T, XM_011522869.1:c.213G>C, XM_011522869.1:c.213G>A, NM_145254.3:c.240G>T, NM_145254.3:c.240G>C, NM_145254.3:c.240G>A, NM_145254.2:c.240G>T, NM_145254.2:c.240G>C, NM_145254.2:c.240G>A, NM_145254.1:c.240G>T, NM_145254.1:c.240G>C, NM_145254.1:c.240G>A, XM_017022939.2:c.156G>T, XM_017022939.2:c.156G>C, XM_017022939.2:c.156G>A, XM_017022939.1:c.156G>T, XM_017022939.1:c.156G>C, XM_017022939.1:c.156G>A, NM_001304997.2:c.126G>T, NM_001304997.2:c.126G>C, NM_001304997.2:c.126G>A, NM_001304997.1:c.126G>T, NM_001304997.1:c.126G>C, NM_001304997.1:c.126G>A, XM_017022941.2:c.105G>T, XM_017022941.2:c.105G>C, XM_017022941.2:c.105G>A, XM_017022941.1:c.105G>T, XM_017022941.1:c.105G>C, XM_017022941.1:c.105G>A, XP_011521171.1:p.Arg71Ser, XP_011521171.1:p.Arg71Ser, NP_660297.1:p.Arg80Ser, NP_660297.1:p.Arg80Ser, XP_016878428.1:p.Arg52Ser, XP_016878428.1:p.Arg52Ser, NP_001291926.1:p.Arg42Ser, NP_001291926.1:p.Arg42Ser, XP_016878430.1:p.Arg35Ser, XP_016878430.1:p.Arg35Ser
                              15.

                              rs1489429665 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                16:75464009 (GRCh38)
                                16:75497907 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:75464008:G:C
                                Gene:
                                TMEM170A (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1489414049 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  16:75465691 (GRCh38)
                                  16:75499589 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:75465690:T:C
                                  Gene:
                                  TMEM170A (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000011/3 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1489133285 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    16:75463390 (GRCh38)
                                    16:75497288 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:75463389:A:C
                                    Gene:
                                    TMEM170A (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    19.

                                    rs1489022615 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      16:75464002 (GRCh38)
                                      16:75497900 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:75464001:G:A,NC_000016.10:75464001:G:C
                                      Gene:
                                      TMEM170A (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000034/9 (TOPMED)
                                      C=0.000035/1 (TOMMO)
                                      A=0.000057/8 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1488928799 [Homo sapiens]
                                        Variant type:
                                        INS
                                        Alleles:
                                        ->A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
                                        Chromosome:
                                        16:75455355 (GRCh38)
                                        16:75489254 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:75455355::A,NC_000016.10:75455355::AA,NC_000016.10:75455355::AAA,NC_000016.10:75455355::AAAA,NC_000016.10:75455355::AAAAA,NC_000016.10:75455355::AAAAAA,NC_000016.10:75455355::AAAAAAA
                                        Gene:
                                        TMEM170A (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        AA=0./0 (ALFA)
                                        AAAAAAA=0.0001/1 (GnomAD)
                                        AAAA=0.01297/191 (TOMMO)
                                        HGVS:

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