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Items: 1 to 20 of 142

1.

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

    2.

    rs1487121633 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A,C [Show Flanks]
      Chromosome:
      16:75463461 (GRCh38)
      16:75497359 (GRCh37)
      Canonical SPDI:
      NC_000016.10:75463460:T:A,NC_000016.10:75463460:T:C
      Gene:
      TMEM170A (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000043/6 (GnomAD)
      HGVS:

      3.

      rs1484692990 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        16:75463468 (GRCh38)
        16:75497367 (GRCh37)
        Canonical SPDI:
        NC_000016.10:75463468:C:CC
        Gene:
        TMEM170A (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,frameshift_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CC=0./0 (ALFA)
        C=0.000011/3 (TOPMED)
        C=0.000029/4 (GnomAD)
        HGVS:

        4.

        rs1462125535 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          16:75451686 (GRCh38)
          16:75485584 (GRCh37)
          Canonical SPDI:
          NC_000016.10:75451685:G:C
          Gene:
          TMEM170A (Varview)
          Functional Consequence:
          intron_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1447300938 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            16:75447609 (GRCh38)
            16:75481507 (GRCh37)
            Canonical SPDI:
            NC_000016.10:75447608:C:T
            Gene:
            TMEM170A (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1441931873 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:75451768 (GRCh38)
              16:75485666 (GRCh37)
              Canonical SPDI:
              NC_000016.10:75451767:C:T
              Gene:
              TMEM170A (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000016.10:g.75451768C>T, NC_000016.9:g.75485666C>T, XM_011522869.3:c.178G>A, XM_011522869.2:c.178G>A, XM_011522869.1:c.178G>A, NM_145254.3:c.205G>A, NM_145254.2:c.205G>A, NM_145254.1:c.205G>A, XM_017022939.2:c.121G>A, XM_017022939.1:c.121G>A, XM_017022942.2:c.121G>A, XM_017022942.1:c.121G>A, XM_017022940.2:c.178G>A, XM_017022940.1:c.178G>A, NM_001304997.2:c.91G>A, NM_001304997.1:c.91G>A, NM_001304996.2:c.205G>A, NM_001304996.1:c.205G>A, XM_017022943.2:c.91G>A, XM_017022943.1:c.91G>A, XM_017022941.2:c.70G>A, XM_017022941.1:c.70G>A, NM_001304998.1:c.70G>A, XP_011521171.1:p.Ala60Thr, NP_660297.1:p.Ala69Thr, XP_016878428.1:p.Ala41Thr, XP_016878431.1:p.Ala41Thr, XP_016878429.1:p.Ala60Thr, NP_001291926.1:p.Ala31Thr, NP_001291925.1:p.Ala69Thr, XP_016878432.1:p.Ala31Thr, XP_016878430.1:p.Ala24Thr, NP_001291927.1:p.Ala24Thr

              7.

              rs1435079313 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C [Show Flanks]
                Chromosome:
                16:75451688 (GRCh38)
                16:75485586 (GRCh37)
                Canonical SPDI:
                NC_000016.10:75451687:A:C
                Gene:
                TMEM170A (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1433778085 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  16:75463438 (GRCh38)
                  16:75497336 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:75463437:G:A,NC_000016.10:75463437:G:C
                  Gene:
                  TMEM170A (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  A=0.000011/3 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:

                  9.

                  rs1426000834 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:75451681 (GRCh38)
                    16:75485579 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:75451680:C:T
                    Gene:
                    TMEM170A (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1422701269 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      16:75464240 (GRCh38)
                      16:75498138 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:75464239:G:A
                      Gene:
                      TMEM170A (Varview)
                      Functional Consequence:
                      missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                      HGVS:

                      11.

                      rs1416514254 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        16:75451823 (GRCh38)
                        16:75485721 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:75451822:T:C
                        Gene:
                        TMEM170A (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1404100161 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          16:75451824 (GRCh38)
                          16:75485722 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:75451823:A:G
                          Gene:
                          TMEM170A (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000016.10:g.75451824A>G, NC_000016.9:g.75485722A>G, XM_011522869.3:c.122T>C, XM_011522869.2:c.122T>C, XM_011522869.1:c.122T>C, NM_145254.3:c.149T>C, NM_145254.2:c.149T>C, NM_145254.1:c.149T>C, XM_017022939.2:c.65T>C, XM_017022939.1:c.65T>C, XM_017022942.2:c.65T>C, XM_017022942.1:c.65T>C, XM_017022940.2:c.122T>C, XM_017022940.1:c.122T>C, NM_001304997.2:c.35T>C, NM_001304997.1:c.35T>C, NM_001304996.2:c.149T>C, NM_001304996.1:c.149T>C, XM_017022943.2:c.35T>C, XM_017022943.1:c.35T>C, XM_017022941.2:c.14T>C, XM_017022941.1:c.14T>C, NM_001304998.1:c.14T>C, XP_011521171.1:p.Val41Ala, NP_660297.1:p.Val50Ala, XP_016878428.1:p.Val22Ala, XP_016878431.1:p.Val22Ala, XP_016878429.1:p.Val41Ala, NP_001291926.1:p.Val12Ala, NP_001291925.1:p.Val50Ala, XP_016878432.1:p.Val12Ala, XP_016878430.1:p.Val5Ala, NP_001291927.1:p.Val5Ala

                          13.

                          rs1399613291 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            16:75464246 (GRCh38)
                            16:75498144 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:75464245:T:G
                            Gene:
                            TMEM170A (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1394753541 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              16:75451692 (GRCh38)
                              16:75485590 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:75451691:G:A,NC_000016.10:75451691:G:C
                              Gene:
                              TMEM170A (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000087/2 (ALFA)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000016.10:g.75451692G>A, NC_000016.10:g.75451692G>C, NC_000016.9:g.75485590G>A, NC_000016.9:g.75485590G>C, XM_011522869.3:c.254C>T, XM_011522869.3:c.254C>G, XM_011522869.2:c.254C>T, XM_011522869.2:c.254C>G, XM_011522869.1:c.254C>T, XM_011522869.1:c.254C>G, NM_145254.3:c.281C>T, NM_145254.3:c.281C>G, NM_145254.2:c.281C>T, NM_145254.2:c.281C>G, NM_145254.1:c.281C>T, NM_145254.1:c.281C>G, XM_017022939.2:c.197C>T, XM_017022939.2:c.197C>G, XM_017022939.1:c.197C>T, XM_017022939.1:c.197C>G, NM_001304997.2:c.167C>T, NM_001304997.2:c.167C>G, NM_001304997.1:c.167C>T, NM_001304997.1:c.167C>G, XM_017022941.2:c.146C>T, XM_017022941.2:c.146C>G, XM_017022941.1:c.146C>T, XM_017022941.1:c.146C>G, XP_011521171.1:p.Pro85Leu, XP_011521171.1:p.Pro85Arg, NP_660297.1:p.Pro94Leu, NP_660297.1:p.Pro94Arg, XP_016878428.1:p.Pro66Leu, XP_016878428.1:p.Pro66Arg, NP_001291926.1:p.Pro56Leu, NP_001291926.1:p.Pro56Arg, XP_016878430.1:p.Pro49Leu, XP_016878430.1:p.Pro49Arg

                              15.

                              rs1392733277 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                16:75451803 (GRCh38)
                                16:75485701 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:75451802:G:C
                                Gene:
                                TMEM170A (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000007/1 (GnomAD)
                                C=0.000034/9 (TOPMED)
                                HGVS:
                                NC_000016.10:g.75451803G>C, NC_000016.9:g.75485701G>C, XM_011522869.3:c.143C>G, XM_011522869.2:c.143C>G, XM_011522869.1:c.143C>G, NM_145254.3:c.170C>G, NM_145254.2:c.170C>G, NM_145254.1:c.170C>G, XM_017022939.2:c.86C>G, XM_017022939.1:c.86C>G, XM_017022942.2:c.86C>G, XM_017022942.1:c.86C>G, XM_017022940.2:c.143C>G, XM_017022940.1:c.143C>G, NM_001304997.2:c.56C>G, NM_001304997.1:c.56C>G, NM_001304996.2:c.170C>G, NM_001304996.1:c.170C>G, XM_017022943.2:c.56C>G, XM_017022943.1:c.56C>G, XM_017022941.2:c.35C>G, XM_017022941.1:c.35C>G, NM_001304998.1:c.35C>G, XP_011521171.1:p.Ser48Cys, NP_660297.1:p.Ser57Cys, XP_016878428.1:p.Ser29Cys, XP_016878431.1:p.Ser29Cys, XP_016878429.1:p.Ser48Cys, NP_001291926.1:p.Ser19Cys, NP_001291925.1:p.Ser57Cys, XP_016878432.1:p.Ser19Cys, XP_016878430.1:p.Ser12Cys, NP_001291927.1:p.Ser12Cys

                                16.

                                rs1389978301 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  16:75447623 (GRCh38)
                                  16:75481521 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:75447622:G:A
                                  Gene:
                                  TMEM170A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000043/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (GnomAD_exomes)
                                  A=0.000011/3 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1386268662 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    16:75447626 (GRCh38)
                                    16:75481524 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:75447625:T:A
                                    Gene:
                                    TMEM170A (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000016.10:g.75447626T>A, NC_000016.9:g.75481524T>A, XM_011522869.3:c.340A>T, XM_011522869.2:c.340A>T, XM_011522869.1:c.340A>T, NM_145254.3:c.367A>T, NM_145254.2:c.367A>T, NM_145254.1:c.367A>T, XM_017022939.2:c.283A>T, XM_017022939.1:c.283A>T, XM_017022942.2:c.214A>T, XM_017022942.1:c.214A>T, XM_017022940.2:c.271A>T, XM_017022940.1:c.271A>T, NM_001304997.2:c.253A>T, NM_001304997.1:c.253A>T, NM_001304996.2:c.298A>T, NM_001304996.1:c.298A>T, XM_017022943.2:c.184A>T, XM_017022943.1:c.184A>T, XM_017022941.2:c.232A>T, XM_017022941.1:c.232A>T, NM_001304998.1:c.163A>T, XP_011521171.1:p.Thr114Ser, NP_660297.1:p.Thr123Ser, XP_016878428.1:p.Thr95Ser, XP_016878431.1:p.Thr72Ser, XP_016878429.1:p.Thr91Ser, NP_001291926.1:p.Thr85Ser, NP_001291925.1:p.Thr100Ser, XP_016878432.1:p.Thr62Ser, XP_016878430.1:p.Thr78Ser, NP_001291927.1:p.Thr55Ser

                                    18.

                                    rs1369172654 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      16:75451700 (GRCh38)
                                      16:75485598 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:75451699:G:A,NC_000016.10:75451699:G:C
                                      Gene:
                                      TMEM170A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,missense_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000028/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000016.10:g.75451700G>A, NC_000016.10:g.75451700G>C, NC_000016.9:g.75485598G>A, NC_000016.9:g.75485598G>C, XM_011522869.3:c.246C>T, XM_011522869.3:c.246C>G, XM_011522869.2:c.246C>T, XM_011522869.2:c.246C>G, XM_011522869.1:c.246C>T, XM_011522869.1:c.246C>G, NM_145254.3:c.273C>T, NM_145254.3:c.273C>G, NM_145254.2:c.273C>T, NM_145254.2:c.273C>G, NM_145254.1:c.273C>T, NM_145254.1:c.273C>G, XM_017022939.2:c.189C>T, XM_017022939.2:c.189C>G, XM_017022939.1:c.189C>T, XM_017022939.1:c.189C>G, NM_001304997.2:c.159C>T, NM_001304997.2:c.159C>G, NM_001304997.1:c.159C>T, NM_001304997.1:c.159C>G, XM_017022941.2:c.138C>T, XM_017022941.2:c.138C>G, XM_017022941.1:c.138C>T, XM_017022941.1:c.138C>G, XP_011521171.1:p.Ile82Met, NP_660297.1:p.Ile91Met, XP_016878428.1:p.Ile63Met, NP_001291926.1:p.Ile53Met, XP_016878430.1:p.Ile46Met

                                      19.

                                      rs1367533962 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        16:75447633 (GRCh38)
                                        16:75481531 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:75447632:T:C
                                        Gene:
                                        TMEM170A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000111/1 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1363975161 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          16:75463495 (GRCh38)
                                          16:75497393 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:75463494:G:A
                                          Gene:
                                          TMEM170A (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000038/10 (TOPMED)
                                          HGVS:

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