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Items: 1 to 20 of 6933

1.

rs1491540874 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    17:62824610 (GRCh38)
    17:60901972 (GRCh37)
    Canonical SPDI:
    NC_000017.11:62824610::G
    Gene:
    MARCHF10-DT (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency
    MAF:
    G=0.000029/4 (GnomAD)
    HGVS:
    2.

    rs1491536119 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      17:62823432 (GRCh38)
      17:60900793 (GRCh37)
      Canonical SPDI:
      NC_000017.11:62823431:CA:
      Gene:
      MARCHF10-DT (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      HGVS:
      3.

      rs1491533275 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TG [Show Flanks]
        Chromosome:
        17:62820814 (GRCh38)
        17:60898176 (GRCh37)
        Canonical SPDI:
        NC_000017.11:62820814:TG:TGTG
        Gene:
        MARCHF10-DT (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TGTG=0.00008/1 (ALFA)
        TG=0.00002/2 (GnomAD)
        TG=0.00007/2 (TOMMO)
        TG=0.00055/1 (Korea1K)
        HGVS:
        4.

        rs1491516368 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AA>- [Show Flanks]
          Chromosome:
          17:62812264 (GRCh38)
          17:60889625 (GRCh37)
          Canonical SPDI:
          NC_000017.11:62812263:AA:
          Gene:
          MARCHF10-DT (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000008/2 (TOPMED)
          -=0.000014/2 (GnomAD)
          -=0.000035/1 (TOMMO)
          -=0.000156/1 (1000Genomes)
          -=0.000546/1 (Korea1K)
          HGVS:
          5.

          rs1491497915 has merged into rs35306204 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAAA [Show Flanks]
            Chromosome:
            17:62823443 (GRCh38)
            17:60900804 (GRCh37)
            Canonical SPDI:
            NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:62823432:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
            Gene:
            MARCHF10-DT (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAAA=0./0 (ALFA)
            AA=0.4961/2041 (1000Genomes)
            HGVS:
            6.

            rs1491496242 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AT>- [Show Flanks]
              Chromosome:
              17:62820814 (GRCh38)
              17:60898175 (GRCh37)
              Canonical SPDI:
              NC_000017.11:62820813:AT:
              Gene:
              MARCHF10-DT (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.000253/3 (ALFA)
              -=0.000156/18 (GnomAD)
              HGVS:
              7.

              rs1491418764 has merged into rs148316014 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
                Chromosome:
                17:62831968 (GRCh38)
                17:60909329 (GRCh37)
                Canonical SPDI:
                NC_000017.11:62831954:TATATATATATATATAT:TATATATATATAT,NC_000017.11:62831954:TATATATATATATATAT:TATATATATATATAT,NC_000017.11:62831954:TATATATATATATATAT:TATATATATATATATATAT,NC_000017.11:62831954:TATATATATATATATAT:TATATATATATATATATATAT
                Gene:
                MARCHF10-DT (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TATATATATATATATATAT=0./0 (ALFA)
                TA=0.002463/1 (NorthernSweden)
                -=0.46058/121911 (TOPMED)
                HGVS:
                8.

                rs1491258808 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->GC [Show Flanks]
                  Chromosome:
                  17:62813608 (GRCh38)
                  17:60890970 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:62813608::GC
                  Gene:
                  MARCHF10-DT (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  GC=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491249041 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->G [Show Flanks]
                    Chromosome:
                    17:62830059 (GRCh38)
                    17:60907421 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:62830059::G
                    Gene:
                    MARCHF10-DT (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1491124483 has merged into rs771901966 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      17:62830068 (GRCh38)
                      17:60907429 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62830058:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      MARCHF10-DT (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTT=0./0 (ALFA)
                      T=0.34211/13 (GENOME_DK)
                      HGVS:
                      NC_000017.11:g.62830068_62830079del, NC_000017.11:g.62830069_62830079del, NC_000017.11:g.62830070_62830079del, NC_000017.11:g.62830071_62830079del, NC_000017.11:g.62830072_62830079del, NC_000017.11:g.62830073_62830079del, NC_000017.11:g.62830074_62830079del, NC_000017.11:g.62830075_62830079del, NC_000017.11:g.62830076_62830079del, NC_000017.11:g.62830077_62830079del, NC_000017.11:g.62830078_62830079del, NC_000017.11:g.62830079del, NC_000017.11:g.62830079dup, NC_000017.11:g.62830078_62830079dup, NC_000017.11:g.62830077_62830079dup, NC_000017.11:g.62830076_62830079dup, NC_000017.11:g.62830075_62830079dup, NC_000017.11:g.62830074_62830079dup, NC_000017.11:g.62830073_62830079dup, NC_000017.11:g.62830072_62830079dup, NC_000017.11:g.62830079_62830080insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.60907429_60907440del, NC_000017.10:g.60907430_60907440del, NC_000017.10:g.60907431_60907440del, NC_000017.10:g.60907432_60907440del, NC_000017.10:g.60907433_60907440del, NC_000017.10:g.60907434_60907440del, NC_000017.10:g.60907435_60907440del, NC_000017.10:g.60907436_60907440del, NC_000017.10:g.60907437_60907440del, NC_000017.10:g.60907438_60907440del, NC_000017.10:g.60907439_60907440del, NC_000017.10:g.60907440del, NC_000017.10:g.60907440dup, NC_000017.10:g.60907439_60907440dup, NC_000017.10:g.60907438_60907440dup, NC_000017.10:g.60907437_60907440dup, NC_000017.10:g.60907436_60907440dup, NC_000017.10:g.60907435_60907440dup, NC_000017.10:g.60907434_60907440dup, NC_000017.10:g.60907433_60907440dup, NC_000017.10:g.60907440_60907441insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      11.

                      rs1491068460 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TG>- [Show Flanks]
                        Chromosome:
                        17:62820799 (GRCh38)
                        17:60898160 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:62820796:TGTG:TG
                        Gene:
                        MARCHF10-DT (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TGTG=0./0 (ALFA)
                        -=0.000011/3 (TOPMED)
                        HGVS:
                        12.

                        rs1491067290 has merged into rs376171163 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
                          Chromosome:
                          17:62824597 (GRCh38)
                          17:60901958 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000017.11:62824589:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
                          Gene:
                          MARCHF10-DT (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TGTGTGTGTGTGTGT=0./0 (ALFA)
                          TG=0.03614/181 (1000Genomes)
                          HGVS:
                          13.

                          rs1491038428 has merged into rs71155957 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                            Chromosome:
                            17:62825951 (GRCh38)
                            17:60903312 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62825939:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            MARCHF10-DT (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTTTTTTTTTTTT=0.0012/8 (ALFA)
                            -=0.4281/2144 (1000Genomes)
                            T=0.4684/1737 (TWINSUK)
                            T=0.4746/1829 (ALSPAC)
                            HGVS:
                            NC_000017.11:g.62825951_62825952del, NC_000017.11:g.62825952del, NC_000017.11:g.62825952dup, NC_000017.11:g.62825951_62825952dup, NC_000017.11:g.62825950_62825952dup, NC_000017.11:g.62825949_62825952dup, NC_000017.11:g.62825948_62825952dup, NC_000017.11:g.62825947_62825952dup, NC_000017.11:g.62825946_62825952dup, NC_000017.11:g.62825945_62825952dup, NC_000017.11:g.62825943_62825952dup, NC_000017.11:g.62825942_62825952dup, NC_000017.11:g.62825952_62825953insTTTTTTTTTTTTTT, NC_000017.11:g.62825952_62825953insTTTTTTTTTTTTTTTT, NC_000017.11:g.62825952_62825953insTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.62825952_62825953insTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.60903312_60903313del, NC_000017.10:g.60903313del, NC_000017.10:g.60903313dup, NC_000017.10:g.60903312_60903313dup, NC_000017.10:g.60903311_60903313dup, NC_000017.10:g.60903310_60903313dup, NC_000017.10:g.60903309_60903313dup, NC_000017.10:g.60903308_60903313dup, NC_000017.10:g.60903307_60903313dup, NC_000017.10:g.60903306_60903313dup, NC_000017.10:g.60903304_60903313dup, NC_000017.10:g.60903303_60903313dup, NC_000017.10:g.60903313_60903314insTTTTTTTTTTTTTT, NC_000017.10:g.60903313_60903314insTTTTTTTTTTTTTTTT, NC_000017.10:g.60903313_60903314insTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.60903313_60903314insTTTTTTTTTTTTTTTTTTTTT
                            14.

                            rs1491023455 has merged into rs34025572 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              17:62813218 (GRCh38)
                              17:60890579 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:62813204:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              MARCHF10-DT (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTTTTTTT=0./0 (ALFA)
                              HGVS:
                              NC_000017.11:g.62813218_62813227del, NC_000017.11:g.62813220_62813227del, NC_000017.11:g.62813222_62813227del, NC_000017.11:g.62813223_62813227del, NC_000017.11:g.62813225_62813227del, NC_000017.11:g.62813226_62813227del, NC_000017.11:g.62813227del, NC_000017.11:g.62813227dup, NC_000017.11:g.62813226_62813227dup, NC_000017.11:g.62813225_62813227dup, NC_000017.11:g.62813224_62813227dup, NC_000017.11:g.62813223_62813227dup, NC_000017.11:g.62813222_62813227dup, NC_000017.10:g.60890579_60890588del, NC_000017.10:g.60890581_60890588del, NC_000017.10:g.60890583_60890588del, NC_000017.10:g.60890584_60890588del, NC_000017.10:g.60890586_60890588del, NC_000017.10:g.60890587_60890588del, NC_000017.10:g.60890588del, NC_000017.10:g.60890588dup, NC_000017.10:g.60890587_60890588dup, NC_000017.10:g.60890586_60890588dup, NC_000017.10:g.60890585_60890588dup, NC_000017.10:g.60890584_60890588dup, NC_000017.10:g.60890583_60890588dup
                              15.

                              rs1491022343 has merged into rs111885009 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA [Show Flanks]
                                Chromosome:
                                17:62814504 (GRCh38)
                                17:60891865 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000017.11:62814490:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA
                                Gene:
                                MARCHF10-DT (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                ACACACACACACACA=0./0 (ALFA)
                                AC=0.00167/1 (NorthernSweden)
                                AC=0.01492/250 (TOMMO)
                                AC=0.04673/10 (Vietnamese)
                                HGVS:
                                16.

                                rs1490817825 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->G [Show Flanks]
                                  Chromosome:
                                  17:62807745 (GRCh38)
                                  17:60885107 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:62807745:G:GG
                                  Gene:
                                  MARCHF10 (Varview), MARCHF10-DT (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GG=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490453674 [Homo sapiens]
                                    Variant type:
                                    SNV:
                                    Alleles:
                                    T>C
                                    Chromosome:
                                    no mapping
                                    Canonical SPDI:
                                    18.

                                    rs1490386793 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      17:62834523 (GRCh38)
                                      17:60911884 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:62834522:A:G
                                      Gene:
                                      MARCHF10-DT (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000011/3 (TOPMED)
                                      G=0.000156/1 (1000Genomes)
                                      HGVS:
                                      19.

                                      rs1490255002 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        17:62829917 (GRCh38)
                                        17:60907278 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:62829916:A:G
                                        Gene:
                                        MARCHF10-DT (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490224740 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C,T [Show Flanks]
                                          Chromosome:
                                          17:62834128 (GRCh38)
                                          17:60911489 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:62834127:G:C,NC_000017.11:62834127:G:T
                                          Gene:
                                          MARCHF10-DT (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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