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Items: 1 to 20 of 1000

3.

rs1490442107 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    4:15685748 (GRCh38)
    4:15687371 (GRCh37)
    Canonical SPDI:
    NC_000004.12:15685747:A:G
    Gene:
    FAM200B (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000011/3 (TOPMED)
    HGVS:
    4.

    rs1489922254 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      4:15682897 (GRCh38)
      4:15684520 (GRCh37)
      Canonical SPDI:
      NC_000004.12:15682896:A:G,NC_000004.12:15682896:A:T
      Gene:
      FBXL5 (Varview), FAM200B (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      HGVS:
      5.

      rs1489679411 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        4:15687182 (GRCh38)
        4:15688805 (GRCh37)
        Canonical SPDI:
        NC_000004.12:15687181:A:T
        Gene:
        FAM200B (Varview)
        Functional Consequence:
        stop_gained,coding_sequence_variant,5_prime_UTR_variant
        HGVS:
        NC_000004.12:g.15687182A>T, NC_000004.11:g.15688805A>T, XM_017008048.2:c.205A>T, XM_017008048.1:c.205A>T, NM_001145191.2:c.205A>T, NM_001145191.1:c.205A>T, XM_024454010.2:c.-327A>T, XM_024454010.1:c.-327A>T, XM_024454001.2:c.205A>T, XM_024454001.1:c.205A>T, XM_024454003.2:c.205A>T, XM_024454003.1:c.205A>T, XM_024454009.2:c.-327A>T, XM_024454009.1:c.-327A>T, XM_024453999.2:c.205A>T, XM_024453999.1:c.205A>T, XM_024454000.2:c.205A>T, XM_024454000.1:c.205A>T, XM_024454005.2:c.205A>T, XM_024454005.1:c.205A>T, XM_024454006.2:c.205A>T, XM_024454006.1:c.205A>T, XM_024454008.2:c.-327A>T, XM_024454008.1:c.-327A>T, XM_024454011.2:c.-327A>T, XM_024454011.1:c.-327A>T, XM_047450112.1:c.205A>T, XM_047450104.1:c.205A>T, XM_047450110.1:c.205A>T, XM_047450103.1:c.205A>T, XM_047450107.1:c.205A>T, XM_047450106.1:c.205A>T, XM_047450114.1:c.-327A>T, XM_047450108.1:c.205A>T, XM_047450109.1:c.205A>T, XM_047450115.1:c.-327A>T, XM_047450113.1:c.-327A>T, XM_047450117.1:c.-327A>T, XP_016863537.1:p.Lys69Ter, NP_001138663.1:p.Lys69Ter, XP_024309769.1:p.Lys69Ter, XP_024309771.1:p.Lys69Ter, XP_024309767.1:p.Lys69Ter, XP_024309768.1:p.Lys69Ter, XP_024309773.1:p.Lys69Ter, XP_024309774.1:p.Lys69Ter, XP_047306068.1:p.Lys69Ter, XP_047306060.1:p.Lys69Ter, XP_047306066.1:p.Lys69Ter, XP_047306059.1:p.Lys69Ter, XP_047306063.1:p.Lys69Ter, XP_047306062.1:p.Lys69Ter, XP_047306064.1:p.Lys69Ter, XP_047306065.1:p.Lys69Ter
        6.

        rs1489310838 has merged into rs1191851329 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTT>-,T,TT,TTT,TTTTT [Show Flanks]
          Chromosome:
          4:15680950 (GRCh38)
          4:15682573 (GRCh37)
          Canonical SPDI:
          NC_000004.12:15680947:TTTTTT:TT,NC_000004.12:15680947:TTTTTT:TTT,NC_000004.12:15680947:TTTTTT:TTTT,NC_000004.12:15680947:TTTTTT:TTTTT,NC_000004.12:15680947:TTTTTT:TTTTTTT
          Gene:
          FBXL5 (Varview), FAM200B (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TT=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          -=0.000015/2 (GnomAD)
          HGVS:
          7.

          rs1488955680 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            4:15685397 (GRCh38)
            4:15687020 (GRCh37)
            Canonical SPDI:
            NC_000004.12:15685396:A:G
            Gene:
            FAM200B (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000007/1 (GnomAD)
            HGVS:
            8.

            rs1488898592 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              4:15686163 (GRCh38)
              4:15687786 (GRCh37)
              Canonical SPDI:
              NC_000004.12:15686162:G:A
              Gene:
              FAM200B (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:
              9.

              rs1488620968 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                4:15682402 (GRCh38)
                4:15684025 (GRCh37)
                Canonical SPDI:
                NC_000004.12:15682401:A:G
                Gene:
                FBXL5 (Varview), FAM200B (Varview)
                Functional Consequence:
                intron_variant,upstream_transcript_variant,2KB_upstream_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (TOPMED)
                HGVS:
                11.

                rs1487939104 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  4:15683453 (GRCh38)
                  4:15685076 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:15683452:C:G
                  Gene:
                  FBXL5 (Varview), FAM200B (Varview)
                  Functional Consequence:
                  intron_variant,upstream_transcript_variant,2KB_upstream_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000011/3 (TOPMED)
                  HGVS:
                  12.

                  rs1487761278 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    4:15680546 (GRCh38)
                    4:15682169 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:15680545:G:A
                    Gene:
                    FBXL5 (Varview), FAM200B (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    A=0.001876/31 (TOMMO)
                    HGVS:
                    14.

                    rs1487192153 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:15684081 (GRCh38)
                      4:15685704 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:15684080:A:G
                      Gene:
                      FAM200B (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      15.

                      rs1487115450 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        4:15688833 (GRCh38)
                        4:15690456 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:15688832:C:T
                        Gene:
                        FAM200B (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000013/2 (GnomAD_exomes)
                        T=0.000014/2 (GnomAD)
                        T=0.000071/1 (TOMMO)
                        T=0.001667/1 (NorthernSweden)
                        C=0.5/1 (SGDP_PRJ)
                        HGVS:
                        NC_000004.12:g.15688833C>T, NC_000004.11:g.15690456C>T, XM_017008048.2:c.1856C>T, XM_017008048.1:c.1856C>T, NM_001145191.2:c.1856C>T, NM_001145191.1:c.1856C>T, XM_024454010.2:c.1325C>T, XM_024454010.1:c.1325C>T, XM_024454001.2:c.1856C>T, XM_024454001.1:c.1856C>T, XM_024454003.2:c.1856C>T, XM_024454003.1:c.1856C>T, XM_024454009.2:c.1325C>T, XM_024454009.1:c.1325C>T, XM_024453999.2:c.1856C>T, XM_024453999.1:c.1856C>T, XM_024454000.2:c.1856C>T, XM_024454000.1:c.1856C>T, XM_024454005.2:c.1856C>T, XM_024454005.1:c.1856C>T, XM_024454006.2:c.1856C>T, XM_024454006.1:c.1856C>T, XM_024454008.2:c.1325C>T, XM_024454008.1:c.1325C>T, XM_024454011.2:c.1325C>T, XM_024454011.1:c.1325C>T, XM_047450112.1:c.1856C>T, XM_047450104.1:c.1856C>T, XM_047450110.1:c.1856C>T, XM_047450103.1:c.1856C>T, XM_047450107.1:c.1856C>T, XM_047450106.1:c.1856C>T, XM_047450114.1:c.1325C>T, XM_047450108.1:c.1856C>T, XM_047450109.1:c.1856C>T, XM_047450115.1:c.1325C>T, XM_047450113.1:c.1325C>T, XM_047450117.1:c.1325C>T, XP_016863537.1:p.Thr619Met, NP_001138663.1:p.Thr619Met, XP_024309778.1:p.Thr442Met, XP_024309769.1:p.Thr619Met, XP_024309771.1:p.Thr619Met, XP_024309777.1:p.Thr442Met, XP_024309767.1:p.Thr619Met, XP_024309768.1:p.Thr619Met, XP_024309773.1:p.Thr619Met, XP_024309774.1:p.Thr619Met, XP_024309776.1:p.Thr442Met, XP_024309779.1:p.Thr442Met, XP_047306068.1:p.Thr619Met, XP_047306060.1:p.Thr619Met, XP_047306066.1:p.Thr619Met, XP_047306059.1:p.Thr619Met, XP_047306063.1:p.Thr619Met, XP_047306062.1:p.Thr619Met, XP_047306070.1:p.Thr442Met, XP_047306064.1:p.Thr619Met, XP_047306065.1:p.Thr619Met, XP_047306071.1:p.Thr442Met, XP_047306069.1:p.Thr442Met, XP_047306073.1:p.Thr442Met
                        16.

                        rs1486824111 [Homo sapiens]
                          Variant type:
                          SNV:
                          Alleles:
                          A>G
                          Chromosome:
                          no mapping
                          Canonical SPDI:
                          17.

                          rs1486801179 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            4:15688815 (GRCh38)
                            4:15690438 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:15688814:T:C
                            Gene:
                            FAM200B (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000007/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.15688815T>C, NC_000004.11:g.15690438T>C, XM_017008048.2:c.1838T>C, XM_017008048.1:c.1838T>C, NM_001145191.2:c.1838T>C, NM_001145191.1:c.1838T>C, XM_024454010.2:c.1307T>C, XM_024454010.1:c.1307T>C, XM_024454001.2:c.1838T>C, XM_024454001.1:c.1838T>C, XM_024454003.2:c.1838T>C, XM_024454003.1:c.1838T>C, XM_024454009.2:c.1307T>C, XM_024454009.1:c.1307T>C, XM_024453999.2:c.1838T>C, XM_024453999.1:c.1838T>C, XM_024454000.2:c.1838T>C, XM_024454000.1:c.1838T>C, XM_024454005.2:c.1838T>C, XM_024454005.1:c.1838T>C, XM_024454006.2:c.1838T>C, XM_024454006.1:c.1838T>C, XM_024454008.2:c.1307T>C, XM_024454008.1:c.1307T>C, XM_024454011.2:c.1307T>C, XM_024454011.1:c.1307T>C, XM_047450112.1:c.1838T>C, XM_047450104.1:c.1838T>C, XM_047450110.1:c.1838T>C, XM_047450103.1:c.1838T>C, XM_047450107.1:c.1838T>C, XM_047450106.1:c.1838T>C, XM_047450114.1:c.1307T>C, XM_047450108.1:c.1838T>C, XM_047450109.1:c.1838T>C, XM_047450115.1:c.1307T>C, XM_047450113.1:c.1307T>C, XM_047450117.1:c.1307T>C, XP_016863537.1:p.Leu613Pro, NP_001138663.1:p.Leu613Pro, XP_024309778.1:p.Leu436Pro, XP_024309769.1:p.Leu613Pro, XP_024309771.1:p.Leu613Pro, XP_024309777.1:p.Leu436Pro, XP_024309767.1:p.Leu613Pro, XP_024309768.1:p.Leu613Pro, XP_024309773.1:p.Leu613Pro, XP_024309774.1:p.Leu613Pro, XP_024309776.1:p.Leu436Pro, XP_024309779.1:p.Leu436Pro, XP_047306068.1:p.Leu613Pro, XP_047306060.1:p.Leu613Pro, XP_047306066.1:p.Leu613Pro, XP_047306059.1:p.Leu613Pro, XP_047306063.1:p.Leu613Pro, XP_047306062.1:p.Leu613Pro, XP_047306070.1:p.Leu436Pro, XP_047306064.1:p.Leu613Pro, XP_047306065.1:p.Leu613Pro, XP_047306071.1:p.Leu436Pro, XP_047306069.1:p.Leu436Pro, XP_047306073.1:p.Leu436Pro
                            20.

                            rs1486432963 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              4:15680617 (GRCh38)
                              4:15682240 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:15680616:A:T
                              Gene:
                              FBXL5 (Varview), FAM200B (Varview)
                              Functional Consequence:
                              intron_variant,genic_upstream_transcript_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:

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