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Items: 1 to 20 of 5000

1.

rs1491555984 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->GTT [Show Flanks]
    Chromosome:
    6:33389545 (GRCh38)
    6:33357323 (GRCh37)
    Canonical SPDI:
    NC_000006.12:33389545:TT:TTGTT
    Gene:
    KIFC1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    TTGTT=0./0 (ALFA)
    TTG=0.00058/7 (GnomAD)
    HGVS:

    2.

    rs1491517346 has merged into rs28381654 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      6:33389555 (GRCh38)
      6:33357332 (GRCh37)
      Canonical SPDI:
      NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33389544:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      KIFC1 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTT=0./0 (ALFA)
      T=0.0678/8 (Korea1K)
      HGVS:
      NC_000006.12:g.33389555_33389568del, NC_000006.12:g.33389556_33389568del, NC_000006.12:g.33389557_33389568del, NC_000006.12:g.33389558_33389568del, NC_000006.12:g.33389559_33389568del, NC_000006.12:g.33389560_33389568del, NC_000006.12:g.33389561_33389568del, NC_000006.12:g.33389562_33389568del, NC_000006.12:g.33389563_33389568del, NC_000006.12:g.33389564_33389568del, NC_000006.12:g.33389565_33389568del, NC_000006.12:g.33389566_33389568del, NC_000006.12:g.33389567_33389568del, NC_000006.12:g.33389568del, NC_000006.12:g.33389568dup, NC_000006.12:g.33389567_33389568dup, NC_000006.12:g.33389566_33389568dup, NC_000006.12:g.33389565_33389568dup, NC_000006.12:g.33389564_33389568dup, NC_000006.12:g.33389563_33389568dup, NC_000006.12:g.33389562_33389568dup, NC_000006.12:g.33389561_33389568dup, NC_000006.12:g.33389560_33389568dup, NC_000006.12:g.33389568_33389569insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.33357332_33357345del, NC_000006.11:g.33357333_33357345del, NC_000006.11:g.33357334_33357345del, NC_000006.11:g.33357335_33357345del, NC_000006.11:g.33357336_33357345del, NC_000006.11:g.33357337_33357345del, NC_000006.11:g.33357338_33357345del, NC_000006.11:g.33357339_33357345del, NC_000006.11:g.33357340_33357345del, NC_000006.11:g.33357341_33357345del, NC_000006.11:g.33357342_33357345del, NC_000006.11:g.33357343_33357345del, NC_000006.11:g.33357344_33357345del, NC_000006.11:g.33357345del, NC_000006.11:g.33357345dup, NC_000006.11:g.33357344_33357345dup, NC_000006.11:g.33357343_33357345dup, NC_000006.11:g.33357342_33357345dup, NC_000006.11:g.33357341_33357345dup, NC_000006.11:g.33357340_33357345dup, NC_000006.11:g.33357339_33357345dup, NC_000006.11:g.33357338_33357345dup, NC_000006.11:g.33357337_33357345dup, NC_000006.11:g.33357345_33357346insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009762.3:g.21_34del, NG_009762.3:g.22_34del, NG_009762.3:g.23_34del, NG_009762.3:g.24_34del, NG_009762.3:g.25_34del, NG_009762.3:g.26_34del, NG_009762.3:g.27_34del, NG_009762.3:g.28_34del, NG_009762.3:g.29_34del, NG_009762.3:g.30_34del, NG_009762.3:g.31_34del, NG_009762.3:g.32_34del, NG_009762.3:g.33_34del, NG_009762.3:g.34del, NG_009762.3:g.34dup, NG_009762.3:g.33_34dup, NG_009762.3:g.32_34dup, NG_009762.3:g.31_34dup, NG_009762.3:g.30_34dup, NG_009762.3:g.29_34dup, NG_009762.3:g.28_34dup, NG_009762.3:g.27_34dup, NG_009762.3:g.26_34dup, NG_009762.3:g.34_35insAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_167248.2:g.4583963_4583976del, NT_167248.2:g.4583964_4583976del, NT_167248.2:g.4583965_4583976del, NT_167248.2:g.4583966_4583976del, NT_167248.2:g.4583967_4583976del, NT_167248.2:g.4583968_4583976del, NT_167248.2:g.4583969_4583976del, NT_167248.2:g.4583970_4583976del, NT_167248.2:g.4583971_4583976del, NT_167248.2:g.4583972_4583976del, NT_167248.2:g.4583973_4583976del, NT_167248.2:g.4583974_4583976del, NT_167248.2:g.4583975_4583976del, NT_167248.2:g.4583976del, NT_167248.2:g.4583976dup, NT_167248.2:g.4583975_4583976dup, NT_167248.2:g.4583974_4583976dup, NT_167248.2:g.4583973_4583976dup, NT_167248.2:g.4583972_4583976dup, NT_167248.2:g.4583971_4583976dup, NT_167248.2:g.4583970_4583976dup, NT_167248.2:g.4583969_4583976dup, NT_167248.2:g.4583968_4583976dup, NT_167248.2:g.4583976_4583977insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167248.1:g.4589559_4589572del, NT_167248.1:g.4589560_4589572del, NT_167248.1:g.4589561_4589572del, NT_167248.1:g.4589562_4589572del, NT_167248.1:g.4589563_4589572del, NT_167248.1:g.4589564_4589572del, NT_167248.1:g.4589565_4589572del, NT_167248.1:g.4589566_4589572del, NT_167248.1:g.4589567_4589572del, NT_167248.1:g.4589568_4589572del, NT_167248.1:g.4589569_4589572del, NT_167248.1:g.4589570_4589572del, NT_167248.1:g.4589571_4589572del, NT_167248.1:g.4589572del, NT_167248.1:g.4589572dup, NT_167248.1:g.4589571_4589572dup, NT_167248.1:g.4589570_4589572dup, NT_167248.1:g.4589569_4589572dup, NT_167248.1:g.4589568_4589572dup, NT_167248.1:g.4589567_4589572dup, NT_167248.1:g.4589566_4589572dup, NT_167248.1:g.4589565_4589572dup, NT_167248.1:g.4589564_4589572dup, NT_167248.1:g.4589572_4589573insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167249.2:g.4838263dup, NT_167249.2:g.4838251_4838263del, NT_167249.2:g.4838252_4838263del, NT_167249.2:g.4838253_4838263del, NT_167249.2:g.4838254_4838263del, NT_167249.2:g.4838255_4838263del, NT_167249.2:g.4838256_4838263del, NT_167249.2:g.4838257_4838263del, NT_167249.2:g.4838258_4838263del, NT_167249.2:g.4838259_4838263del, NT_167249.2:g.4838260_4838263del, NT_167249.2:g.4838261_4838263del, NT_167249.2:g.4838262_4838263del, NT_167249.2:g.4838263del, NT_167249.2:g.4838262_4838263dup, NT_167249.2:g.4838261_4838263dup, NT_167249.2:g.4838260_4838263dup, NT_167249.2:g.4838259_4838263dup, NT_167249.2:g.4838258_4838263dup, NT_167249.2:g.4838257_4838263dup, NT_167249.2:g.4838256_4838263dup, NT_167249.2:g.4838255_4838263dup, NT_167249.2:g.4838254_4838263dup, NT_167249.2:g.4838263_4838264insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167247.2:g.4825516dup, NT_167247.2:g.4825504_4825516del, NT_167247.2:g.4825505_4825516del, NT_167247.2:g.4825506_4825516del, NT_167247.2:g.4825507_4825516del, NT_167247.2:g.4825508_4825516del, NT_167247.2:g.4825509_4825516del, NT_167247.2:g.4825510_4825516del, NT_167247.2:g.4825511_4825516del, NT_167247.2:g.4825512_4825516del, NT_167247.2:g.4825513_4825516del, NT_167247.2:g.4825514_4825516del, NT_167247.2:g.4825515_4825516del, NT_167247.2:g.4825516del, NT_167247.2:g.4825515_4825516dup, NT_167247.2:g.4825514_4825516dup, NT_167247.2:g.4825513_4825516dup, NT_167247.2:g.4825512_4825516dup, NT_167247.2:g.4825511_4825516dup, NT_167247.2:g.4825510_4825516dup, NT_167247.2:g.4825509_4825516dup, NT_167247.2:g.4825508_4825516dup, NT_167247.2:g.4825507_4825516dup, NT_167247.2:g.4825516_4825517insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167249.1:g.4837561dup, NT_167249.1:g.4837549_4837561del, NT_167249.1:g.4837550_4837561del, NT_167249.1:g.4837551_4837561del, NT_167249.1:g.4837552_4837561del, NT_167249.1:g.4837553_4837561del, NT_167249.1:g.4837554_4837561del, NT_167249.1:g.4837555_4837561del, NT_167249.1:g.4837556_4837561del, NT_167249.1:g.4837557_4837561del, NT_167249.1:g.4837558_4837561del, NT_167249.1:g.4837559_4837561del, NT_167249.1:g.4837560_4837561del, NT_167249.1:g.4837561del, NT_167249.1:g.4837560_4837561dup, NT_167249.1:g.4837559_4837561dup, NT_167249.1:g.4837558_4837561dup, NT_167249.1:g.4837557_4837561dup, NT_167249.1:g.4837556_4837561dup, NT_167249.1:g.4837555_4837561dup, NT_167249.1:g.4837554_4837561dup, NT_167249.1:g.4837553_4837561dup, NT_167249.1:g.4837552_4837561dup, NT_167249.1:g.4837561_4837562insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_167247.1:g.4831101dup, NT_167247.1:g.4831089_4831101del, NT_167247.1:g.4831090_4831101del, NT_167247.1:g.4831091_4831101del, NT_167247.1:g.4831092_4831101del, NT_167247.1:g.4831093_4831101del, NT_167247.1:g.4831094_4831101del, NT_167247.1:g.4831095_4831101del, NT_167247.1:g.4831096_4831101del, NT_167247.1:g.4831097_4831101del, NT_167247.1:g.4831098_4831101del, NT_167247.1:g.4831099_4831101del, NT_167247.1:g.4831100_4831101del, NT_167247.1:g.4831101del, NT_167247.1:g.4831100_4831101dup, NT_167247.1:g.4831099_4831101dup, NT_167247.1:g.4831098_4831101dup, NT_167247.1:g.4831097_4831101dup, NT_167247.1:g.4831096_4831101dup, NT_167247.1:g.4831095_4831101dup, NT_167247.1:g.4831094_4831101dup, NT_167247.1:g.4831093_4831101dup, NT_167247.1:g.4831092_4831101dup, NT_167247.1:g.4831101_4831102insTTTTTTTTTTTTTTTTTTTTTTTTTTT

      3.

      rs1491492210 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GA>- [Show Flanks]
        Chromosome:
        6:33404280 (GRCh38)
        6:33372057 (GRCh37)
        Canonical SPDI:
        NC_000006.12:33404279:GA:
        Gene:
        KIFC1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        -=0.000014/2 (GnomAD)
        -=0.001618/6 (TWINSUK)
        -=0.002335/9 (ALSPAC)
        HGVS:

        4.

        rs1491306420 has merged into rs3066474 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
          Chromosome:
          6:33409721 (GRCh38)
          6:33377498 (GRCh37)
          Canonical SPDI:
          NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:33409705:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
          Gene:
          KIFC1 (Varview), PHF1 (Varview)
          Functional Consequence:
          2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TGTGTGTGTGTGTGTGT=0./0 (ALFA)
          HGVS:
          NC_000006.12:g.33409707GT[7], NC_000006.12:g.33409707GT[8], NC_000006.12:g.33409707GT[9], NC_000006.12:g.33409707GT[10], NC_000006.12:g.33409707GT[11], NC_000006.12:g.33409707GT[12], NC_000006.12:g.33409707GT[13], NC_000006.12:g.33409707GT[14], NC_000006.12:g.33409707GT[15], NC_000006.12:g.33409707GT[16], NC_000006.12:g.33409707GT[17], NC_000006.12:g.33409707GT[18], NC_000006.12:g.33409707GT[19], NC_000006.12:g.33409707GT[20], NC_000006.12:g.33409707GT[21], NC_000006.12:g.33409707GT[22], NC_000006.12:g.33409707GT[23], NC_000006.12:g.33409707GT[25], NC_000006.12:g.33409707GT[26], NC_000006.12:g.33409707GT[27], NC_000006.12:g.33409707GT[28], NC_000006.12:g.33409707GT[29], NC_000006.12:g.33409707GT[30], NC_000006.12:g.33409707GT[31], NC_000006.12:g.33409707GT[32], NC_000006.12:g.33409707GT[33], NC_000006.12:g.33409707GT[34], NC_000006.12:g.33409707GT[35], NC_000006.12:g.33409707GT[36], NC_000006.12:g.33409707GT[38], NC_000006.11:g.33377484GT[7], NC_000006.11:g.33377484GT[8], NC_000006.11:g.33377484GT[9], NC_000006.11:g.33377484GT[10], NC_000006.11:g.33377484GT[11], NC_000006.11:g.33377484GT[12], NC_000006.11:g.33377484GT[13], NC_000006.11:g.33377484GT[14], NC_000006.11:g.33377484GT[15], NC_000006.11:g.33377484GT[16], NC_000006.11:g.33377484GT[17], NC_000006.11:g.33377484GT[18], NC_000006.11:g.33377484GT[19], NC_000006.11:g.33377484GT[20], NC_000006.11:g.33377484GT[21], NC_000006.11:g.33377484GT[22], NC_000006.11:g.33377484GT[23], NC_000006.11:g.33377484GT[25], NC_000006.11:g.33377484GT[26], NC_000006.11:g.33377484GT[27], NC_000006.11:g.33377484GT[28], NC_000006.11:g.33377484GT[29], NC_000006.11:g.33377484GT[30], NC_000006.11:g.33377484GT[31], NC_000006.11:g.33377484GT[32], NC_000006.11:g.33377484GT[33], NC_000006.11:g.33377484GT[34], NC_000006.11:g.33377484GT[35], NC_000006.11:g.33377484GT[36], NC_000006.11:g.33377484GT[38], NT_167248.2:g.4604105GT[24], NT_167248.2:g.4604105GT[7], NT_167248.2:g.4604105GT[8], NT_167248.2:g.4604105GT[9], NT_167248.2:g.4604105GT[10], NT_167248.2:g.4604105GT[11], NT_167248.2:g.4604105GT[12], NT_167248.2:g.4604105GT[13], NT_167248.2:g.4604105GT[14], NT_167248.2:g.4604105GT[15], NT_167248.2:g.4604105GT[16], NT_167248.2:g.4604105GT[17], NT_167248.2:g.4604105GT[19], NT_167248.2:g.4604105GT[20], NT_167248.2:g.4604105GT[21], NT_167248.2:g.4604105GT[22], NT_167248.2:g.4604105GT[23], NT_167248.2:g.4604105GT[25], NT_167248.2:g.4604105GT[26], NT_167248.2:g.4604105GT[27], NT_167248.2:g.4604105GT[28], NT_167248.2:g.4604105GT[29], NT_167248.2:g.4604105GT[30], NT_167248.2:g.4604105GT[31], NT_167248.2:g.4604105GT[32], NT_167248.2:g.4604105GT[33], NT_167248.2:g.4604105GT[34], NT_167248.2:g.4604105GT[35], NT_167248.2:g.4604105GT[36], NT_167248.2:g.4604105GT[38], NT_167249.2:g.4858405GT[7], NT_167249.2:g.4858405GT[8], NT_167249.2:g.4858405GT[9], NT_167249.2:g.4858405GT[10], NT_167249.2:g.4858405GT[11], NT_167249.2:g.4858405GT[12], NT_167249.2:g.4858405GT[13], NT_167249.2:g.4858405GT[14], NT_167249.2:g.4858405GT[15], NT_167249.2:g.4858405GT[16], NT_167249.2:g.4858405GT[17], NT_167249.2:g.4858405GT[18], NT_167249.2:g.4858405GT[19], NT_167249.2:g.4858405GT[20], NT_167249.2:g.4858405GT[21], NT_167249.2:g.4858405GT[22], NT_167249.2:g.4858405GT[23], NT_167249.2:g.4858405GT[25], NT_167249.2:g.4858405GT[26], NT_167249.2:g.4858405GT[27], NT_167249.2:g.4858405GT[28], NT_167249.2:g.4858405GT[29], NT_167249.2:g.4858405GT[30], NT_167249.2:g.4858405GT[31], NT_167249.2:g.4858405GT[32], NT_167249.2:g.4858405GT[33], NT_167249.2:g.4858405GT[34], NT_167249.2:g.4858405GT[35], NT_167249.2:g.4858405GT[36], NT_167249.2:g.4858405GT[38], NT_167249.1:g.4857703GT[7], NT_167249.1:g.4857703GT[8], NT_167249.1:g.4857703GT[9], NT_167249.1:g.4857703GT[10], NT_167249.1:g.4857703GT[11], NT_167249.1:g.4857703GT[12], NT_167249.1:g.4857703GT[13], NT_167249.1:g.4857703GT[14], NT_167249.1:g.4857703GT[15], NT_167249.1:g.4857703GT[16], NT_167249.1:g.4857703GT[17], NT_167249.1:g.4857703GT[18], NT_167249.1:g.4857703GT[19], NT_167249.1:g.4857703GT[20], NT_167249.1:g.4857703GT[21], NT_167249.1:g.4857703GT[22], NT_167249.1:g.4857703GT[23], NT_167249.1:g.4857703GT[25], NT_167249.1:g.4857703GT[26], NT_167249.1:g.4857703GT[27], NT_167249.1:g.4857703GT[28], NT_167249.1:g.4857703GT[29], NT_167249.1:g.4857703GT[30], NT_167249.1:g.4857703GT[31], NT_167249.1:g.4857703GT[32], NT_167249.1:g.4857703GT[33], NT_167249.1:g.4857703GT[34], NT_167249.1:g.4857703GT[35], NT_167249.1:g.4857703GT[36], NT_167249.1:g.4857703GT[38], NM_002263.4:c.*17GT[7], NM_002263.4:c.*17GT[8], NM_002263.4:c.*17GT[9], NM_002263.4:c.*17GT[10], NM_002263.4:c.*17GT[11], NM_002263.4:c.*17GT[12], NM_002263.4:c.*17GT[13], NM_002263.4:c.*17GT[14], NM_002263.4:c.*17GT[15], NM_002263.4:c.*17GT[16], NM_002263.4:c.*17GT[17], NM_002263.4:c.*17GT[18], NM_002263.4:c.*17GT[19], NM_002263.4:c.*17GT[20], NM_002263.4:c.*17GT[21], NM_002263.4:c.*17GT[22], NM_002263.4:c.*17GT[23], NM_002263.4:c.*17GT[25], NM_002263.4:c.*17GT[26], NM_002263.4:c.*17GT[27], NM_002263.4:c.*17GT[28], NM_002263.4:c.*17GT[29], NM_002263.4:c.*17GT[30], NM_002263.4:c.*17GT[31], NM_002263.4:c.*17GT[32], NM_002263.4:c.*17GT[33], NM_002263.4:c.*17GT[34], NM_002263.4:c.*17GT[35], NM_002263.4:c.*17GT[36], NM_002263.4:c.*17GT[38], NM_002263.3:c.*17GT[7], NM_002263.3:c.*17GT[8], NM_002263.3:c.*17GT[9], NM_002263.3:c.*17GT[10], NM_002263.3:c.*17GT[11], NM_002263.3:c.*17GT[12], NM_002263.3:c.*17GT[13], NM_002263.3:c.*17GT[14], NM_002263.3:c.*17GT[15], NM_002263.3:c.*17GT[16], NM_002263.3:c.*17GT[17], NM_002263.3:c.*17GT[18], NM_002263.3:c.*17GT[19], NM_002263.3:c.*17GT[20], NM_002263.3:c.*17GT[21], NM_002263.3:c.*17GT[22], NM_002263.3:c.*17GT[23], NM_002263.3:c.*17GT[25], NM_002263.3:c.*17GT[26], NM_002263.3:c.*17GT[27], NM_002263.3:c.*17GT[28], NM_002263.3:c.*17GT[29], NM_002263.3:c.*17GT[30], NM_002263.3:c.*17GT[31], NM_002263.3:c.*17GT[32], NM_002263.3:c.*17GT[33], NM_002263.3:c.*17GT[34], NM_002263.3:c.*17GT[35], NM_002263.3:c.*17GT[36], NM_002263.3:c.*17GT[38], XM_011514587.3:c.*17GT[7], XM_011514587.3:c.*17GT[8], XM_011514587.3:c.*17GT[9], XM_011514587.3:c.*17GT[10], XM_011514587.3:c.*17GT[11], XM_011514587.3:c.*17GT[12], XM_011514587.3:c.*17GT[13], XM_011514587.3:c.*17GT[14], XM_011514587.3:c.*17GT[15], XM_011514587.3:c.*17GT[16], XM_011514587.3:c.*17GT[17], XM_011514587.3:c.*17GT[18], XM_011514587.3:c.*17GT[19], XM_011514587.3:c.*17GT[20], XM_011514587.3:c.*17GT[21], XM_011514587.3:c.*17GT[22], XM_011514587.3:c.*17GT[23], XM_011514587.3:c.*17GT[25], XM_011514587.3:c.*17GT[26], XM_011514587.3:c.*17GT[27], XM_011514587.3:c.*17GT[28], XM_011514587.3:c.*17GT[29], XM_011514587.3:c.*17GT[30], XM_011514587.3:c.*17GT[31], XM_011514587.3:c.*17GT[32], XM_011514587.3:c.*17GT[33], XM_011514587.3:c.*17GT[34], XM_011514587.3:c.*17GT[35], XM_011514587.3:c.*17GT[36], XM_011514587.3:c.*17GT[38], XM_011514587.2:c.*17GT[7], XM_011514587.2:c.*17GT[8], XM_011514587.2:c.*17GT[9], XM_011514587.2:c.*17GT[10], XM_011514587.2:c.*17GT[11], XM_011514587.2:c.*17GT[12], XM_011514587.2:c.*17GT[13], XM_011514587.2:c.*17GT[14], XM_011514587.2:c.*17GT[15], XM_011514587.2:c.*17GT[16], XM_011514587.2:c.*17GT[17], XM_011514587.2:c.*17GT[18], XM_011514587.2:c.*17GT[19], XM_011514587.2:c.*17GT[20], XM_011514587.2:c.*17GT[21], XM_011514587.2:c.*17GT[22], XM_011514587.2:c.*17GT[23], XM_011514587.2:c.*17GT[25], XM_011514587.2:c.*17GT[26], XM_011514587.2:c.*17GT[27], XM_011514587.2:c.*17GT[28], XM_011514587.2:c.*17GT[29], XM_011514587.2:c.*17GT[30], XM_011514587.2:c.*17GT[31], XM_011514587.2:c.*17GT[32], XM_011514587.2:c.*17GT[33], XM_011514587.2:c.*17GT[34], XM_011514587.2:c.*17GT[35], XM_011514587.2:c.*17GT[36], XM_011514587.2:c.*17GT[38], XM_011514587.1:c.*17GT[7], XM_011514587.1:c.*17GT[8], XM_011514587.1:c.*17GT[9], XM_011514587.1:c.*17GT[10], XM_011514587.1:c.*17GT[11], XM_011514587.1:c.*17GT[12], XM_011514587.1:c.*17GT[13], XM_011514587.1:c.*17GT[14], XM_011514587.1:c.*17GT[15], XM_011514587.1:c.*17GT[16], XM_011514587.1:c.*17GT[17], XM_011514587.1:c.*17GT[18], XM_011514587.1:c.*17GT[19], XM_011514587.1:c.*17GT[20], XM_011514587.1:c.*17GT[21], XM_011514587.1:c.*17GT[22], XM_011514587.1:c.*17GT[23], XM_011514587.1:c.*17GT[25], XM_011514587.1:c.*17GT[26], XM_011514587.1:c.*17GT[27], XM_011514587.1:c.*17GT[28], XM_011514587.1:c.*17GT[29], XM_011514587.1:c.*17GT[30], XM_011514587.1:c.*17GT[31], XM_011514587.1:c.*17GT[32], XM_011514587.1:c.*17GT[33], XM_011514587.1:c.*17GT[34], XM_011514587.1:c.*17GT[35], XM_011514587.1:c.*17GT[36], XM_011514587.1:c.*17GT[38], XM_017010837.2:c.*17GT[7], XM_017010837.2:c.*17GT[8], XM_017010837.2:c.*17GT[9], XM_017010837.2:c.*17GT[10], XM_017010837.2:c.*17GT[11], XM_017010837.2:c.*17GT[12], XM_017010837.2:c.*17GT[13], XM_017010837.2:c.*17GT[14], XM_017010837.2:c.*17GT[15], XM_017010837.2:c.*17GT[16], XM_017010837.2:c.*17GT[17], XM_017010837.2:c.*17GT[18], XM_017010837.2:c.*17GT[19], XM_017010837.2:c.*17GT[20], XM_017010837.2:c.*17GT[21], XM_017010837.2:c.*17GT[22], XM_017010837.2:c.*17GT[23], XM_017010837.2:c.*17GT[25], XM_017010837.2:c.*17GT[26], XM_017010837.2:c.*17GT[27], XM_017010837.2:c.*17GT[28], XM_017010837.2:c.*17GT[29], XM_017010837.2:c.*17GT[30], XM_017010837.2:c.*17GT[31], XM_017010837.2:c.*17GT[32], XM_017010837.2:c.*17GT[33], XM_017010837.2:c.*17GT[34], XM_017010837.2:c.*17GT[35], XM_017010837.2:c.*17GT[36], XM_017010837.2:c.*17GT[38], XM_011514585.2:c.*102GT[7], XM_011514585.2:c.*102GT[8], XM_011514585.2:c.*102GT[9], XM_011514585.2:c.*102GT[10], XM_011514585.2:c.*102GT[11], XM_011514585.2:c.*102GT[12], XM_011514585.2:c.*102GT[13], XM_011514585.2:c.*102GT[14], XM_011514585.2:c.*102GT[15], XM_011514585.2:c.*102GT[16], XM_011514585.2:c.*102GT[17], XM_011514585.2:c.*102GT[18], XM_011514585.2:c.*102GT[19], XM_011514585.2:c.*102GT[20], XM_011514585.2:c.*102GT[21], XM_011514585.2:c.*102GT[22], XM_011514585.2:c.*102GT[23], XM_011514585.2:c.*102GT[25], XM_011514585.2:c.*102GT[26], XM_011514585.2:c.*102GT[27], XM_011514585.2:c.*102GT[28], XM_011514585.2:c.*102GT[29], XM_011514585.2:c.*102GT[30], XM_011514585.2:c.*102GT[31], XM_011514585.2:c.*102GT[32], XM_011514585.2:c.*102GT[33], XM_011514585.2:c.*102GT[34], XM_011514585.2:c.*102GT[35], XM_011514585.2:c.*102GT[36], XM_011514585.2:c.*102GT[38], XM_011514585.1:c.*102GT[7], XM_011514585.1:c.*102GT[8], XM_011514585.1:c.*102GT[9], XM_011514585.1:c.*102GT[10], XM_011514585.1:c.*102GT[11], XM_011514585.1:c.*102GT[12], XM_011514585.1:c.*102GT[13], XM_011514585.1:c.*102GT[14], XM_011514585.1:c.*102GT[15], XM_011514585.1:c.*102GT[16], XM_011514585.1:c.*102GT[17], XM_011514585.1:c.*102GT[18], XM_011514585.1:c.*102GT[19], XM_011514585.1:c.*102GT[20], XM_011514585.1:c.*102GT[21], XM_011514585.1:c.*102GT[22], XM_011514585.1:c.*102GT[23], XM_011514585.1:c.*102GT[25], XM_011514585.1:c.*102GT[26], XM_011514585.1:c.*102GT[27], XM_011514585.1:c.*102GT[28], XM_011514585.1:c.*102GT[29], XM_011514585.1:c.*102GT[30], XM_011514585.1:c.*102GT[31], XM_011514585.1:c.*102GT[32], XM_011514585.1:c.*102GT[33], XM_011514585.1:c.*102GT[34], XM_011514585.1:c.*102GT[35], XM_011514585.1:c.*102GT[36], XM_011514585.1:c.*102GT[38], NT_167248.1:g.4609701GT[24], NT_167248.1:g.4609701GT[7], NT_167248.1:g.4609701GT[8], NT_167248.1:g.4609701GT[9], NT_167248.1:g.4609701GT[10], NT_167248.1:g.4609701GT[11], NT_167248.1:g.4609701GT[12], NT_167248.1:g.4609701GT[13], NT_167248.1:g.4609701GT[14], NT_167248.1:g.4609701GT[15], NT_167248.1:g.4609701GT[16], NT_167248.1:g.4609701GT[17], NT_167248.1:g.4609701GT[19], NT_167248.1:g.4609701GT[20], NT_167248.1:g.4609701GT[21], NT_167248.1:g.4609701GT[22], NT_167248.1:g.4609701GT[23], NT_167248.1:g.4609701GT[25], NT_167248.1:g.4609701GT[26], NT_167248.1:g.4609701GT[27], NT_167248.1:g.4609701GT[28], NT_167248.1:g.4609701GT[29], NT_167248.1:g.4609701GT[30], NT_167248.1:g.4609701GT[31], NT_167248.1:g.4609701GT[32], NT_167248.1:g.4609701GT[33], NT_167248.1:g.4609701GT[34], NT_167248.1:g.4609701GT[35], NT_167248.1:g.4609701GT[36], NT_167248.1:g.4609701GT[38]

          5.

          rs1491259237 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TA>- [Show Flanks]
            Chromosome:
            6:33403550 (GRCh38)
            6:33371327 (GRCh37)
            Canonical SPDI:
            NC_000006.12:33403548:ATA:A
            Gene:
            KIFC1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            -=0.000004/1 (GnomAD_exomes)
            -=0.000008/1 (ExAC)
            HGVS:

            6.

            rs1491253634 has merged into rs752059822 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CT>-,CTCT,CTCTCT,CTCTCTCT,CTCTGTCT [Show Flanks]
              Chromosome:
              6:33409705 (GRCh38)
              6:33377482 (GRCh37)
              Canonical SPDI:
              NC_000006.12:33409703:TCT:T,NC_000006.12:33409703:TCT:TCTCT,NC_000006.12:33409703:TCT:TCTCTCT,NC_000006.12:33409703:TCT:TCTCTCTCT,NC_000006.12:33409703:TCT:TCTCTGTCT
              Gene:
              KIFC1 (Varview), PHF1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
              Clinical significance:
              benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TCTCTCTCT=0./0 (ALFA)
              TC=0.05054/831 (TOMMO)
              HGVS:
              NC_000006.12:g.33409705_33409706del, NC_000006.12:g.33409705_33409706dup, NC_000006.12:g.33409705CT[3], NC_000006.12:g.33409705CT[4], NC_000006.12:g.33409704_33409706TC[2]TGTCT[1], NC_000006.11:g.33377482_33377483del, NC_000006.11:g.33377482_33377483dup, NC_000006.11:g.33377482CT[3], NC_000006.11:g.33377482CT[4], NC_000006.11:g.33377481_33377483TC[2]TGTCT[1], NT_167248.2:g.4604104dup, NT_167248.2:g.4604103del, NT_167248.2:g.4604104_4604105insCTT, NT_167248.2:g.4604104TC[2]TT[1], NT_167248.2:g.4604104TC[3]TT[1], NT_167248.2:g.4604104_4604105insCTGTCTT, NT_167249.2:g.4858403_4858404del, NT_167249.2:g.4858403_4858404dup, NT_167249.2:g.4858403CT[3], NT_167249.2:g.4858403CT[4], NT_167249.2:g.4858402_4858404TC[2]TGTCT[1], NT_167249.1:g.4857701_4857702del, NT_167249.1:g.4857701_4857702dup, NT_167249.1:g.4857701CT[3], NT_167249.1:g.4857701CT[4], NT_167249.1:g.4857700_4857702TC[2]TGTCT[1], NM_002263.4:c.*15_*16del, NM_002263.4:c.*15_*16dup, NM_002263.4:c.*15CT[3], NM_002263.4:c.*15CT[4], NM_002263.4:c.*14_*16TC[2]TGTCT[1], NM_002263.3:c.*15_*16del, NM_002263.3:c.*15_*16dup, NM_002263.3:c.*15CT[3], NM_002263.3:c.*15CT[4], NM_002263.3:c.*14_*16TC[2]TGTCT[1], XM_011514587.3:c.*15_*16del, XM_011514587.3:c.*15_*16dup, XM_011514587.3:c.*15CT[3], XM_011514587.3:c.*15CT[4], XM_011514587.3:c.*14_*16TC[2]TGTCT[1], XM_011514587.2:c.*15_*16del, XM_011514587.2:c.*15_*16dup, XM_011514587.2:c.*15CT[3], XM_011514587.2:c.*15CT[4], XM_011514587.2:c.*14_*16TC[2]TGTCT[1], XM_011514587.1:c.*15_*16del, XM_011514587.1:c.*15_*16dup, XM_011514587.1:c.*15CT[3], XM_011514587.1:c.*15CT[4], XM_011514587.1:c.*14_*16TC[2]TGTCT[1], XM_017010837.2:c.*15_*16del, XM_017010837.2:c.*15_*16dup, XM_017010837.2:c.*15CT[3], XM_017010837.2:c.*15CT[4], XM_017010837.2:c.*14_*16TC[2]TGTCT[1], XM_011514585.2:c.*100_*101del, XM_011514585.2:c.*100_*101dup, XM_011514585.2:c.*100CT[3], XM_011514585.2:c.*100CT[4], XM_011514585.2:c.*99_*101TC[2]TGTCT[1], XM_011514585.1:c.*100_*101del, XM_011514585.1:c.*100_*101dup, XM_011514585.1:c.*100CT[3], XM_011514585.1:c.*100CT[4], XM_011514585.1:c.*99_*101TC[2]TGTCT[1], NT_167248.1:g.4609700dup, NT_167248.1:g.4609699del, NT_167248.1:g.4609700_4609701insCTT, NT_167248.1:g.4609700TC[2]TT[1], NT_167248.1:g.4609700TC[3]TT[1], NT_167248.1:g.4609700_4609701insCTGTCTT

              7.

              rs1491058398 has merged into rs9282514 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                6:33396997 (GRCh38)
                6:33364774 (GRCh37)
                Canonical SPDI:
                NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:33396987:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                KIFC1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTT=0./0 (ALFA)
                HGVS:
                NC_000006.12:g.33396997_33397007del, NC_000006.12:g.33396998_33397007del, NC_000006.12:g.33396999_33397007del, NC_000006.12:g.33397000_33397007del, NC_000006.12:g.33397001_33397007del, NC_000006.12:g.33397003_33397007del, NC_000006.12:g.33397005_33397007del, NC_000006.12:g.33397006_33397007del, NC_000006.12:g.33397007del, NC_000006.12:g.33397007dup, NC_000006.12:g.33397006_33397007dup, NC_000006.12:g.33397005_33397007dup, NC_000006.12:g.33397004_33397007dup, NC_000006.12:g.33397003_33397007dup, NC_000006.12:g.33397002_33397007dup, NC_000006.12:g.33397001_33397007dup, NC_000006.12:g.33397000_33397007dup, NC_000006.12:g.33396999_33397007dup, NC_000006.12:g.33396998_33397007dup, NC_000006.12:g.33396996_33397007dup, NC_000006.12:g.33396995_33397007dup, NC_000006.12:g.33396994_33397007dup, NC_000006.12:g.33396993_33397007dup, NC_000006.12:g.33396992_33397007dup, NC_000006.11:g.33364774_33364784del, NC_000006.11:g.33364775_33364784del, NC_000006.11:g.33364776_33364784del, NC_000006.11:g.33364777_33364784del, NC_000006.11:g.33364778_33364784del, NC_000006.11:g.33364780_33364784del, NC_000006.11:g.33364782_33364784del, NC_000006.11:g.33364783_33364784del, NC_000006.11:g.33364784del, NC_000006.11:g.33364784dup, NC_000006.11:g.33364783_33364784dup, NC_000006.11:g.33364782_33364784dup, NC_000006.11:g.33364781_33364784dup, NC_000006.11:g.33364780_33364784dup, NC_000006.11:g.33364779_33364784dup, NC_000006.11:g.33364778_33364784dup, NC_000006.11:g.33364777_33364784dup, NC_000006.11:g.33364776_33364784dup, NC_000006.11:g.33364775_33364784dup, NC_000006.11:g.33364773_33364784dup, NC_000006.11:g.33364772_33364784dup, NC_000006.11:g.33364771_33364784dup, NC_000006.11:g.33364770_33364784dup, NC_000006.11:g.33364769_33364784dup, NT_167248.2:g.4591398_4591408del, NT_167248.2:g.4591399_4591408del, NT_167248.2:g.4591400_4591408del, NT_167248.2:g.4591401_4591408del, NT_167248.2:g.4591402_4591408del, NT_167248.2:g.4591404_4591408del, NT_167248.2:g.4591406_4591408del, NT_167248.2:g.4591407_4591408del, NT_167248.2:g.4591408del, NT_167248.2:g.4591408dup, NT_167248.2:g.4591407_4591408dup, NT_167248.2:g.4591406_4591408dup, NT_167248.2:g.4591405_4591408dup, NT_167248.2:g.4591404_4591408dup, NT_167248.2:g.4591403_4591408dup, NT_167248.2:g.4591402_4591408dup, NT_167248.2:g.4591401_4591408dup, NT_167248.2:g.4591400_4591408dup, NT_167248.2:g.4591399_4591408dup, NT_167248.2:g.4591397_4591408dup, NT_167248.2:g.4591396_4591408dup, NT_167248.2:g.4591395_4591408dup, NT_167248.2:g.4591394_4591408dup, NT_167248.2:g.4591393_4591408dup, NT_167248.1:g.4596994_4597004del, NT_167248.1:g.4596995_4597004del, NT_167248.1:g.4596996_4597004del, NT_167248.1:g.4596997_4597004del, NT_167248.1:g.4596998_4597004del, NT_167248.1:g.4597000_4597004del, NT_167248.1:g.4597002_4597004del, NT_167248.1:g.4597003_4597004del, NT_167248.1:g.4597004del, NT_167248.1:g.4597004dup, NT_167248.1:g.4597003_4597004dup, NT_167248.1:g.4597002_4597004dup, NT_167248.1:g.4597001_4597004dup, NT_167248.1:g.4597000_4597004dup, NT_167248.1:g.4596999_4597004dup, NT_167248.1:g.4596998_4597004dup, NT_167248.1:g.4596997_4597004dup, NT_167248.1:g.4596996_4597004dup, NT_167248.1:g.4596995_4597004dup, NT_167248.1:g.4596993_4597004dup, NT_167248.1:g.4596992_4597004dup, NT_167248.1:g.4596991_4597004dup, NT_167248.1:g.4596990_4597004dup, NT_167248.1:g.4596989_4597004dup, NT_167249.2:g.4845695_4845705del, NT_167249.2:g.4845696_4845705del, NT_167249.2:g.4845697_4845705del, NT_167249.2:g.4845698_4845705del, NT_167249.2:g.4845699_4845705del, NT_167249.2:g.4845701_4845705del, NT_167249.2:g.4845703_4845705del, NT_167249.2:g.4845704_4845705del, NT_167249.2:g.4845705del, NT_167249.2:g.4845705dup, NT_167249.2:g.4845704_4845705dup, NT_167249.2:g.4845703_4845705dup, NT_167249.2:g.4845702_4845705dup, NT_167249.2:g.4845701_4845705dup, NT_167249.2:g.4845700_4845705dup, NT_167249.2:g.4845699_4845705dup, NT_167249.2:g.4845698_4845705dup, NT_167249.2:g.4845697_4845705dup, NT_167249.2:g.4845696_4845705dup, NT_167249.2:g.4845694_4845705dup, NT_167249.2:g.4845693_4845705dup, NT_167249.2:g.4845692_4845705dup, NT_167249.2:g.4845691_4845705dup, NT_167249.2:g.4845690_4845705dup, NT_167249.1:g.4844993_4845003del, NT_167249.1:g.4844994_4845003del, NT_167249.1:g.4844995_4845003del, NT_167249.1:g.4844996_4845003del, NT_167249.1:g.4844997_4845003del, NT_167249.1:g.4844999_4845003del, NT_167249.1:g.4845001_4845003del, NT_167249.1:g.4845002_4845003del, NT_167249.1:g.4845003del, NT_167249.1:g.4845003dup, NT_167249.1:g.4845002_4845003dup, NT_167249.1:g.4845001_4845003dup, NT_167249.1:g.4845000_4845003dup, NT_167249.1:g.4844999_4845003dup, NT_167249.1:g.4844998_4845003dup, NT_167249.1:g.4844997_4845003dup, NT_167249.1:g.4844996_4845003dup, NT_167249.1:g.4844995_4845003dup, NT_167249.1:g.4844994_4845003dup, NT_167249.1:g.4844992_4845003dup, NT_167249.1:g.4844991_4845003dup, NT_167249.1:g.4844990_4845003dup, NT_167249.1:g.4844989_4845003dup, NT_167249.1:g.4844988_4845003dup

                8.

                rs1491016550 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->GT [Show Flanks]
                  Chromosome:
                  6:33389546 (GRCh38)
                  6:33357324 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:33389546:T:TGT
                  Gene:
                  KIFC1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TGT=0.00017/2 (ALFA)
                  TG=0.0087/147 (GnomAD)
                  HGVS:

                  9.

                  rs1490977436 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    6:33404672 (GRCh38)
                    6:33372449 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:33404671:C:A,NC_000006.12:33404671:C:T
                    Gene:
                    KIFC1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000142/2 (ALFA)
                    T=0.000008/2 (TOPMED)
                    T=0.000021/3 (GnomAD)
                    HGVS:

                    10.

                    rs1490818734 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      6:33397705 (GRCh38)
                      6:33365482 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:33397704:A:G
                      Gene:
                      KIFC1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000015/4 (TOPMED)
                      HGVS:

                      11.

                      rs1490056973 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAGGC>- [Show Flanks]
                        Chromosome:
                        6:33391699 (GRCh38)
                        6:33359476 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:33391697:CAAGGC:C
                        Gene:
                        KIFC1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        -=0.000008/2 (TOPMED)
                        -=0.000029/4 (GnomAD)
                        HGVS:

                        12.

                        rs1490041378 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->T [Show Flanks]
                          Chromosome:
                          6:33390613 (GRCh38)
                          6:33358391 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:33390613:TT:TTT
                          Gene:
                          KIFC1 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TTT=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1489951014 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            6:33397290 (GRCh38)
                            6:33365067 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:33397289:A:C
                            Gene:
                            KIFC1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000008/1 (GnomAD)
                            HGVS:

                            14.

                            rs1489156703 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CCTT>- [Show Flanks]
                              Chromosome:
                              6:33390469 (GRCh38)
                              6:33358246 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:33390465:CTTCCTT:CTT
                              Gene:
                              KIFC1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CTT=0./0 (ALFA)
                              -=0.000014/2 (GnomAD)
                              -=0.000042/11 (TOPMED)
                              -=0.001239/21 (TOMMO)
                              HGVS:

                              15.

                              rs1488862132 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:33410566 (GRCh38)
                                6:33378343 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:33410565:C:T
                                Gene:
                                PHF1 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1488795031 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  6:33395839 (GRCh38)
                                  6:33363616 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:33395838:C:G,NC_000006.12:33395838:C:T
                                  Gene:
                                  KIFC1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  G=0.000156/1 (1000Genomes)
                                  HGVS:

                                  17.

                                  rs1488751899 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:33402782 (GRCh38)
                                    6:33370559 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:33402781:G:A
                                    Gene:
                                    KIFC1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1488749000 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,T [Show Flanks]
                                      Chromosome:
                                      6:33404611 (GRCh38)
                                      6:33372388 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:33404610:G:A,NC_000006.12:33404610:G:T
                                      Gene:
                                      KIFC1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      T=0.000021/3 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1488397176 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        6:33407601 (GRCh38)
                                        6:33375378 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:33407600:C:G,NC_000006.12:33407600:C:T
                                        Gene:
                                        KIFC1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1488015925 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          6:33409235 (GRCh38)
                                          6:33377012 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:33409234:T:A
                                          Gene:
                                          KIFC1 (Varview), PHF1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:

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