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1.

rs1491557218 has merged into rs68092921 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    6:11116991 (GRCh38)
    6:11117224 (GRCh37)
    Canonical SPDI:
    NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11116982:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    SMIM13 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000006.12:g.11116991_11117009del, NC_000006.12:g.11116994_11117009del, NC_000006.12:g.11116995_11117009del, NC_000006.12:g.11116996_11117009del, NC_000006.12:g.11116997_11117009del, NC_000006.12:g.11116998_11117009del, NC_000006.12:g.11116999_11117009del, NC_000006.12:g.11117000_11117009del, NC_000006.12:g.11117001_11117009del, NC_000006.12:g.11117002_11117009del, NC_000006.12:g.11117003_11117009del, NC_000006.12:g.11117004_11117009del, NC_000006.12:g.11117005_11117009del, NC_000006.12:g.11117006_11117009del, NC_000006.12:g.11117007_11117009del, NC_000006.12:g.11117008_11117009del, NC_000006.12:g.11117009del, NC_000006.12:g.11117009dup, NC_000006.12:g.11117008_11117009dup, NC_000006.12:g.11117007_11117009dup, NC_000006.12:g.11117006_11117009dup, NC_000006.12:g.11117005_11117009dup, NC_000006.12:g.11117004_11117009dup, NC_000006.12:g.11117003_11117009dup, NC_000006.12:g.11117002_11117009dup, NC_000006.12:g.11117001_11117009dup, NC_000006.12:g.11117000_11117009dup, NC_000006.12:g.11116999_11117009dup, NC_000006.12:g.11116998_11117009dup, NC_000006.12:g.11116997_11117009dup, NC_000006.12:g.11116996_11117009dup, NC_000006.12:g.11116995_11117009dup, NC_000006.12:g.11116994_11117009dup, NC_000006.12:g.11116993_11117009dup, NC_000006.12:g.11116992_11117009dup, NC_000006.12:g.11116991_11117009dup, NC_000006.12:g.11116990_11117009dup, NC_000006.12:g.11116989_11117009dup, NC_000006.12:g.11116988_11117009dup, NC_000006.12:g.11116987_11117009dup, NC_000006.12:g.11116986_11117009dup, NC_000006.12:g.11116985_11117009dup, NC_000006.12:g.11116984_11117009dup, NC_000006.12:g.11117009_11117010insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.11117009_11117010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.11117009_11117010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.11117009_11117010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.11117009_11117010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11117224_11117242del, NC_000006.11:g.11117227_11117242del, NC_000006.11:g.11117228_11117242del, NC_000006.11:g.11117229_11117242del, NC_000006.11:g.11117230_11117242del, NC_000006.11:g.11117231_11117242del, NC_000006.11:g.11117232_11117242del, NC_000006.11:g.11117233_11117242del, NC_000006.11:g.11117234_11117242del, NC_000006.11:g.11117235_11117242del, NC_000006.11:g.11117236_11117242del, NC_000006.11:g.11117237_11117242del, NC_000006.11:g.11117238_11117242del, NC_000006.11:g.11117239_11117242del, NC_000006.11:g.11117240_11117242del, NC_000006.11:g.11117241_11117242del, NC_000006.11:g.11117242del, NC_000006.11:g.11117242dup, NC_000006.11:g.11117241_11117242dup, NC_000006.11:g.11117240_11117242dup, NC_000006.11:g.11117239_11117242dup, NC_000006.11:g.11117238_11117242dup, NC_000006.11:g.11117237_11117242dup, NC_000006.11:g.11117236_11117242dup, NC_000006.11:g.11117235_11117242dup, NC_000006.11:g.11117234_11117242dup, NC_000006.11:g.11117233_11117242dup, NC_000006.11:g.11117232_11117242dup, NC_000006.11:g.11117231_11117242dup, NC_000006.11:g.11117230_11117242dup, NC_000006.11:g.11117229_11117242dup, NC_000006.11:g.11117228_11117242dup, NC_000006.11:g.11117227_11117242dup, NC_000006.11:g.11117226_11117242dup, NC_000006.11:g.11117225_11117242dup, NC_000006.11:g.11117224_11117242dup, NC_000006.11:g.11117223_11117242dup, NC_000006.11:g.11117222_11117242dup, NC_000006.11:g.11117221_11117242dup, NC_000006.11:g.11117220_11117242dup, NC_000006.11:g.11117219_11117242dup, NC_000006.11:g.11117218_11117242dup, NC_000006.11:g.11117217_11117242dup, NC_000006.11:g.11117242_11117243insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11117242_11117243insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11117242_11117243insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11117242_11117243insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11117242_11117243insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

    2.

    rs1491502984 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      6:11130270 (GRCh38)
      6:11130503 (GRCh37)
      Canonical SPDI:
      NC_000006.12:11130268:ACA:A
      Gene:
      SMIM13 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0./0 (ALFA)
      HGVS:

      3.

      rs1491436629 has merged into rs537060136 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        6:11092333 (GRCh38)
        6:11092566 (GRCh37)
        Canonical SPDI:
        NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11092324:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        SMIM13 (Varview)
        Functional Consequence:
        2KB_upstream_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000006.12:g.11092333_11092341del, NC_000006.12:g.11092334_11092341del, NC_000006.12:g.11092335_11092341del, NC_000006.12:g.11092336_11092341del, NC_000006.12:g.11092337_11092341del, NC_000006.12:g.11092338_11092341del, NC_000006.12:g.11092339_11092341del, NC_000006.12:g.11092340_11092341del, NC_000006.12:g.11092341del, NC_000006.12:g.11092341dup, NC_000006.12:g.11092340_11092341dup, NC_000006.12:g.11092339_11092341dup, NC_000006.12:g.11092338_11092341dup, NC_000006.12:g.11092337_11092341dup, NC_000006.12:g.11092336_11092341dup, NC_000006.12:g.11092335_11092341dup, NC_000006.12:g.11092334_11092341dup, NC_000006.12:g.11092333_11092341dup, NC_000006.12:g.11092332_11092341dup, NC_000006.12:g.11092331_11092341dup, NC_000006.12:g.11092330_11092341dup, NC_000006.12:g.11092329_11092341dup, NC_000006.12:g.11092327_11092341dup, NC_000006.12:g.11092341_11092342insTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11092566_11092574del, NC_000006.11:g.11092567_11092574del, NC_000006.11:g.11092568_11092574del, NC_000006.11:g.11092569_11092574del, NC_000006.11:g.11092570_11092574del, NC_000006.11:g.11092571_11092574del, NC_000006.11:g.11092572_11092574del, NC_000006.11:g.11092573_11092574del, NC_000006.11:g.11092574del, NC_000006.11:g.11092574dup, NC_000006.11:g.11092573_11092574dup, NC_000006.11:g.11092572_11092574dup, NC_000006.11:g.11092571_11092574dup, NC_000006.11:g.11092570_11092574dup, NC_000006.11:g.11092569_11092574dup, NC_000006.11:g.11092568_11092574dup, NC_000006.11:g.11092567_11092574dup, NC_000006.11:g.11092566_11092574dup, NC_000006.11:g.11092565_11092574dup, NC_000006.11:g.11092564_11092574dup, NC_000006.11:g.11092563_11092574dup, NC_000006.11:g.11092562_11092574dup, NC_000006.11:g.11092560_11092574dup, NC_000006.11:g.11092574_11092575insTTTTTTTTTTTTTTTTTT

        4.

        rs1491428299 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->CTT [Show Flanks]
          Chromosome:
          6:11092325 (GRCh38)
          6:11092559 (GRCh37)
          Canonical SPDI:
          NC_000006.12:11092325:TT:TTCTT
          Gene:
          SMIM13 (Varview)
          Functional Consequence:
          2KB_upstream_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          TTCTT=0.00008/1 (ALFA)
          TTC=0.00067/18 (GnomAD)
          HGVS:

          5.

          rs1491419556 has merged into rs80159629 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
            Chromosome:
            6:11133749 (GRCh38)
            6:11133982 (GRCh37)
            Canonical SPDI:
            NC_000006.12:11133738:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:11133738:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:11133738:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:11133738:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:11133738:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:11133738:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
            Gene:
            SMIM13 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTTTTTTT=0./0 (ALFA)
            T=0.2/8 (GENOME_DK)
            T=0.24461/1225 (1000Genomes)
            HGVS:

            6.

            rs1491278798 has merged into rs138712581 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
              Chromosome:
              6:11129086 (GRCh38)
              6:11129319 (GRCh37)
              Canonical SPDI:
              NC_000006.12:11129078:GGGGGGGGG:GGGGGGG,NC_000006.12:11129078:GGGGGGGGG:GGGGGGGG,NC_000006.12:11129078:GGGGGGGGG:GGGGGGGGGG,NC_000006.12:11129078:GGGGGGGGG:GGGGGGGGGGG,NC_000006.12:11129078:GGGGGGGGG:GGGGGGGGGGGG
              Gene:
              SMIM13 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GGGGGGGGGGGG=0./0 (ALFA)
              HGVS:

              7.

              rs1491222442 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                6:11117747 (GRCh38)
                6:11117981 (GRCh37)
                Canonical SPDI:
                NC_000006.12:11117747::A
                Gene:
                SMIM13 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000008/1 (GnomAD)
                HGVS:

                8.

                rs1491195892 has merged into rs561151019 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTACAGAATATTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  6:11117760 (GRCh38)
                  6:11117993 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTACAGAATATTGTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:11117746:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  SMIM13 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTTTTT=0./0 (ALFA)
                  -=0.025/1 (GENOME_DK)
                  HGVS:
                  NC_000006.12:g.11117760_11117761del, NC_000006.12:g.11117761del, NC_000006.12:g.11117761dup, NC_000006.12:g.11117760_11117761dup, NC_000006.12:g.11117759_11117761dup, NC_000006.12:g.11117758_11117761dup, NC_000006.12:g.11117757_11117761dup, NC_000006.12:g.11117756_11117761dup, NC_000006.12:g.11117755_11117761dup, NC_000006.12:g.11117747_11117761T[27]GTTTTTTTTTACAGAATATTGTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.11117761_11117762insTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.11117993_11117994del, NC_000006.11:g.11117994del, NC_000006.11:g.11117994dup, NC_000006.11:g.11117993_11117994dup, NC_000006.11:g.11117992_11117994dup, NC_000006.11:g.11117991_11117994dup, NC_000006.11:g.11117990_11117994dup, NC_000006.11:g.11117989_11117994dup, NC_000006.11:g.11117988_11117994dup, NC_000006.11:g.11117980_11117994T[27]GTTTTTTTTTACAGAATATTGTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.11117994_11117995insTTTTTTTTTTTTTTTTTTT

                  9.

                  rs1491157158 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->T [Show Flanks]
                    Chromosome:
                    6:11136829 (GRCh38)
                    6:11137063 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:11136829:T:TT
                    Gene:
                    SMIM13 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant
                    Validated:
                    by cluster
                    HGVS:

                    10.

                    rs1491127227 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->G [Show Flanks]
                      Chromosome:
                      6:11133739 (GRCh38)
                      6:11133973 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:11133739::G
                      Gene:
                      SMIM13 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000011/1 (GnomAD)
                      HGVS:

                      11.

                      rs1491101347 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CTT [Show Flanks]
                        Chromosome:
                        6:11116983 (GRCh38)
                        6:11117217 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:11116983:TT:TTCTT
                        Gene:
                        SMIM13 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TTCTT=0./0 (ALFA)
                        TTC=0.00013/6 (GnomAD)
                        HGVS:

                        12.

                        rs1491021922 has merged into rs34260357 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
                          Chromosome:
                          6:11125309 (GRCh38)
                          6:11125542 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:11125294:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          SMIM13 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAAAAAA=0./0 (ALFA)
                          -=0.25/2 (KOREAN)
                          -=0.5/20 (GENOME_DK)
                          HGVS:

                          13.

                          rs1490967155 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:11120204 (GRCh38)
                            6:11120437 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:11120203:G:A
                            Gene:
                            SMIM13 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000011/3 (TOPMED)
                            HGVS:

                            14.

                            rs1490901203 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              6:11125393 (GRCh38)
                              6:11125626 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:11125392:T:C,NC_000006.12:11125392:T:G
                              Gene:
                              SMIM13 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000015/2 (GnomAD)
                              G=0.000546/1 (Korea1K)
                              C=0.016085/47 (KOREAN)
                              HGVS:

                              15.

                              rs1490745425 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:11103866 (GRCh38)
                                6:11104099 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:11103865:C:T
                                Gene:
                                SMIM13 (Varview), ERVFRD-1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,stop_gained,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490634484 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  A>-,AA [Show Flanks]
                                  Chromosome:
                                  6:11094473 (GRCh38)
                                  6:11094706 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:11094472:AAAAAAA:AAAAAA,NC_000006.12:11094472:AAAAAAA:AAAAAAAA
                                  Gene:
                                  SMIM13 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAA=0.000054/1 (ALFA)
                                  -=0.000019/5 (TOPMED)
                                  -=0.000223/1 (Estonian)
                                  HGVS:

                                  17.

                                  rs1490541423 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:11132086 (GRCh38)
                                    6:11132319 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:11132085:G:A
                                    Gene:
                                    SMIM13 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490464466 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:11112283 (GRCh38)
                                      6:11112516 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:11112282:G:A
                                      Gene:
                                      SMIM13 (Varview), ERVFRD-1 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000084/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000342/1 (KOREAN)
                                      A=0.000354/6 (TOMMO)
                                      HGVS:

                                      19.

                                      rs1490407959 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        GAC>- [Show Flanks]
                                        Chromosome:
                                        6:11135598 (GRCh38)
                                        6:11135831 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:11135597:GAC:
                                        Gene:
                                        SMIM13 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0.000066/1 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000223/1 (Estonian)
                                        HGVS:

                                        20.

                                        rs1490380684 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          6:11100455 (GRCh38)
                                          6:11100688 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:11100454:C:T
                                          Gene:
                                          SMIM13 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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