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Items: 1 to 20 of 2013

1.

rs1491120348 has merged into rs58472657 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    7:30756416 (GRCh38)
    7:30796032 (GRCh37)
    Canonical SPDI:
    NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    INMT (Varview), INMT-MINDY4 (Varview)
    Functional Consequence:
    3_prime_UTR_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTT=0./0 (ALFA)
    HGVS:
    NC_000007.14:g.30756416_30756421del, NC_000007.14:g.30756417_30756421del, NC_000007.14:g.30756418_30756421del, NC_000007.14:g.30756419_30756421del, NC_000007.14:g.30756420_30756421del, NC_000007.14:g.30756421del, NC_000007.14:g.30756421dup, NC_000007.14:g.30756420_30756421dup, NC_000007.14:g.30756419_30756421dup, NC_000007.14:g.30756418_30756421dup, NC_000007.14:g.30756417_30756421dup, NC_000007.14:g.30756416_30756421dup, NC_000007.14:g.30756415_30756421dup, NC_000007.14:g.30756414_30756421dup, NC_000007.14:g.30756413_30756421dup, NC_000007.14:g.30756412_30756421dup, NC_000007.14:g.30756411_30756421dup, NC_000007.14:g.30756410_30756421dup, NC_000007.14:g.30756409_30756421dup, NC_000007.14:g.30756408_30756421dup, NC_000007.14:g.30756407_30756421dup, NC_000007.14:g.30756406_30756421dup, NC_000007.14:g.30756405_30756421dup, NC_000007.14:g.30756404_30756421dup, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796032_30796037del, NC_000007.13:g.30796033_30796037del, NC_000007.13:g.30796034_30796037del, NC_000007.13:g.30796035_30796037del, NC_000007.13:g.30796036_30796037del, NC_000007.13:g.30796037del, NC_000007.13:g.30796037dup, NC_000007.13:g.30796036_30796037dup, NC_000007.13:g.30796035_30796037dup, NC_000007.13:g.30796034_30796037dup, NC_000007.13:g.30796033_30796037dup, NC_000007.13:g.30796032_30796037dup, NC_000007.13:g.30796031_30796037dup, NC_000007.13:g.30796030_30796037dup, NC_000007.13:g.30796029_30796037dup, NC_000007.13:g.30796028_30796037dup, NC_000007.13:g.30796027_30796037dup, NC_000007.13:g.30796026_30796037dup, NC_000007.13:g.30796025_30796037dup, NC_000007.13:g.30796024_30796037dup, NC_000007.13:g.30796023_30796037dup, NC_000007.13:g.30796022_30796037dup, NC_000007.13:g.30796021_30796037dup, NC_000007.13:g.30796020_30796037dup, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9282_9287del, NG_047126.1:g.9283_9287del, NG_047126.1:g.9284_9287del, NG_047126.1:g.9285_9287del, NG_047126.1:g.9286_9287del, NG_047126.1:g.9287del, NG_047126.1:g.9287dup, NG_047126.1:g.9286_9287dup, NG_047126.1:g.9285_9287dup, NG_047126.1:g.9284_9287dup, NG_047126.1:g.9283_9287dup, NG_047126.1:g.9282_9287dup, NG_047126.1:g.9281_9287dup, NG_047126.1:g.9280_9287dup, NG_047126.1:g.9279_9287dup, NG_047126.1:g.9278_9287dup, NG_047126.1:g.9277_9287dup, NG_047126.1:g.9276_9287dup, NG_047126.1:g.9275_9287dup, NG_047126.1:g.9274_9287dup, NG_047126.1:g.9273_9287dup, NG_047126.1:g.9272_9287dup, NG_047126.1:g.9271_9287dup, NG_047126.1:g.9270_9287dup, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*565_*570del, NM_006774.5:c.*566_*570del, NM_006774.5:c.*567_*570del, NM_006774.5:c.*568_*570del, NM_006774.5:c.*569_*570del, NM_006774.5:c.*570del, NM_006774.5:c.*570dup, NM_006774.5:c.*569_*570dup, NM_006774.5:c.*568_*570dup, NM_006774.5:c.*567_*570dup, NM_006774.5:c.*566_*570dup, NM_006774.5:c.*565_*570dup, NM_006774.5:c.*564_*570dup, NM_006774.5:c.*563_*570dup, NM_006774.5:c.*562_*570dup, NM_006774.5:c.*561_*570dup, NM_006774.5:c.*560_*570dup, NM_006774.5:c.*559_*570dup, NM_006774.5:c.*558_*570dup, NM_006774.5:c.*557_*570dup, NM_006774.5:c.*556_*570dup, NM_006774.5:c.*555_*570dup, NM_006774.5:c.*554_*570dup, NM_006774.5:c.*553_*570dup, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*565_*570del, NM_006774.4:c.*566_*570del, NM_006774.4:c.*567_*570del, NM_006774.4:c.*568_*570del, NM_006774.4:c.*569_*570del, NM_006774.4:c.*570del, NM_006774.4:c.*570dup, NM_006774.4:c.*569_*570dup, NM_006774.4:c.*568_*570dup, NM_006774.4:c.*567_*570dup, NM_006774.4:c.*566_*570dup, NM_006774.4:c.*565_*570dup, NM_006774.4:c.*564_*570dup, NM_006774.4:c.*563_*570dup, NM_006774.4:c.*562_*570dup, NM_006774.4:c.*561_*570dup, NM_006774.4:c.*560_*570dup, NM_006774.4:c.*559_*570dup, NM_006774.4:c.*558_*570dup, NM_006774.4:c.*557_*570dup, NM_006774.4:c.*556_*570dup, NM_006774.4:c.*555_*570dup, NM_006774.4:c.*554_*570dup, NM_006774.4:c.*553_*570dup, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*565_*570del, NM_001199219.2:c.*566_*570del, NM_001199219.2:c.*567_*570del, NM_001199219.2:c.*568_*570del, NM_001199219.2:c.*569_*570del, NM_001199219.2:c.*570del, NM_001199219.2:c.*570dup, NM_001199219.2:c.*569_*570dup, NM_001199219.2:c.*568_*570dup, NM_001199219.2:c.*567_*570dup, NM_001199219.2:c.*566_*570dup, NM_001199219.2:c.*565_*570dup, NM_001199219.2:c.*564_*570dup, NM_001199219.2:c.*563_*570dup, NM_001199219.2:c.*562_*570dup, NM_001199219.2:c.*561_*570dup, NM_001199219.2:c.*560_*570dup, NM_001199219.2:c.*559_*570dup, NM_001199219.2:c.*558_*570dup, NM_001199219.2:c.*557_*570dup, NM_001199219.2:c.*556_*570dup, NM_001199219.2:c.*555_*570dup, NM_001199219.2:c.*554_*570dup, NM_001199219.2:c.*553_*570dup, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*565_*570del, NM_001199219.1:c.*566_*570del, NM_001199219.1:c.*567_*570del, NM_001199219.1:c.*568_*570del, NM_001199219.1:c.*569_*570del, NM_001199219.1:c.*570del, NM_001199219.1:c.*570dup, NM_001199219.1:c.*569_*570dup, NM_001199219.1:c.*568_*570dup, NM_001199219.1:c.*567_*570dup, NM_001199219.1:c.*566_*570dup, NM_001199219.1:c.*565_*570dup, NM_001199219.1:c.*564_*570dup, NM_001199219.1:c.*563_*570dup, NM_001199219.1:c.*562_*570dup, NM_001199219.1:c.*561_*570dup, NM_001199219.1:c.*560_*570dup, NM_001199219.1:c.*559_*570dup, NM_001199219.1:c.*558_*570dup, NM_001199219.1:c.*557_*570dup, NM_001199219.1:c.*556_*570dup, NM_001199219.1:c.*555_*570dup, NM_001199219.1:c.*554_*570dup, NM_001199219.1:c.*553_*570dup, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    2.

    rs1491002140 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      7:30754513 (GRCh38)
      7:30794129 (GRCh37)
      Canonical SPDI:
      NC_000007.14:30754512:A:G
      Gene:
      INMT (Varview), INMT-MINDY4 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      3.

      rs1490487046 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A [Show Flanks]
        Chromosome:
        7:30756786 (GRCh38)
        7:30796402 (GRCh37)
        Canonical SPDI:
        NC_000007.14:30756785:C:A
        Gene:
        INMT (Varview), INMT-MINDY4 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,intron_variant
        Validated:
        by frequency
        MAF:
        A=0.000007/1 (GnomAD)
        HGVS:
        4.

        rs1490465986 has merged into rs58315408 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CCATCCATCCATCCATCCATCCATCCAT>-,CCAT,CCATCCAT,CCATCCATCCAT,CCATCCATCCATCCAT,CCATCCATCCATCCATCCAT,CCATCCATCCATCCATCCATCCAT,CCATCCATCCATCCATCCATCCATCCATCCAT,CCATCCATCCATCCATCCATCCATCCATCCATCCAT,CCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT [Show Flanks]
          Chromosome:
          7:30754651 (GRCh38)
          7:30794267 (GRCh37)
          Canonical SPDI:
          NC_000007.14:30754636:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT:ATCCATCCATCCAT,NC_000007.14:30754636:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT:ATCCATCCATCCATCCAT,NC_000007.14:30754636:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT:ATCCATCCATCCATCCATCCAT,NC_000007.14:30754636:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT:ATCCATCCATCCATCCATCCATCCAT,NC_000007.14:30754636:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT:ATCCATCCATCCATCCATCCATCCATCCAT,NC_000007.14:30754636:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT:ATCCATCCATCCATCCATCCATCCATCCATCCAT,NC_000007.14:30754636:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT:ATCCATCCATCCATCCATCCATCCATCCATCCATCCAT,NC_000007.14:30754636:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT,NC_000007.14:30754636:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT,NC_000007.14:30754636:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT:ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT
          Gene:
          INMT (Varview), INMT-MINDY4 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ATCCATCCATCCATCCATCCAT=0./0 (ALFA)
          -=0.431331/114169 (TOPMED)
          HGVS:
          NC_000007.14:g.30754639CCAT[3], NC_000007.14:g.30754639CCAT[4], NC_000007.14:g.30754639CCAT[5], NC_000007.14:g.30754639CCAT[6], NC_000007.14:g.30754639CCAT[7], NC_000007.14:g.30754639CCAT[8], NC_000007.14:g.30754639CCAT[9], NC_000007.14:g.30754639CCAT[11], NC_000007.14:g.30754639CCAT[12], NC_000007.14:g.30754639CCAT[13], NC_000007.13:g.30794255CCAT[3], NC_000007.13:g.30794255CCAT[4], NC_000007.13:g.30794255CCAT[5], NC_000007.13:g.30794255CCAT[6], NC_000007.13:g.30794255CCAT[7], NC_000007.13:g.30794255CCAT[8], NC_000007.13:g.30794255CCAT[9], NC_000007.13:g.30794255CCAT[11], NC_000007.13:g.30794255CCAT[12], NC_000007.13:g.30794255CCAT[13], NG_047126.1:g.7505CCAT[3], NG_047126.1:g.7505CCAT[4], NG_047126.1:g.7505CCAT[5], NG_047126.1:g.7505CCAT[6], NG_047126.1:g.7505CCAT[7], NG_047126.1:g.7505CCAT[8], NG_047126.1:g.7505CCAT[9], NG_047126.1:g.7505CCAT[11], NG_047126.1:g.7505CCAT[12], NG_047126.1:g.7505CCAT[13]
          5.

          rs1489998188 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            7:30758067 (GRCh38)
            7:30797683 (GRCh37)
            Canonical SPDI:
            NC_000007.14:30758066:T:C
            Gene:
            INMT (Varview), INMT-MINDY4 (Varview)
            Functional Consequence:
            downstream_transcript_variant,500B_downstream_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            6.

            rs1489973586 has merged into rs147764304 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CCATCCATCCAT>-,CCAT,CCATCCAT,CCATCCATCCATCCAT,CCATCCATCCATCCATCCAT [Show Flanks]
              Chromosome:
              7:30754327 (GRCh38)
              7:30793943 (GRCh37)
              Canonical SPDI:
              NC_000007.14:30754311:CATCCATCCATCCATCCATCCATCCAT:CATCCATCCATCCAT,NC_000007.14:30754311:CATCCATCCATCCATCCATCCATCCAT:CATCCATCCATCCATCCAT,NC_000007.14:30754311:CATCCATCCATCCATCCATCCATCCAT:CATCCATCCATCCATCCATCCAT,NC_000007.14:30754311:CATCCATCCATCCATCCATCCATCCAT:CATCCATCCATCCATCCATCCATCCATCCAT,NC_000007.14:30754311:CATCCATCCATCCATCCATCCATCCAT:CATCCATCCATCCATCCATCCATCCATCCATCCAT
              Gene:
              INMT (Varview), INMT-MINDY4 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CATCCATCCATCCATCCAT=0./0 (ALFA)
              CATC=0.001092/2 (Korea1K)
              -=0.021667/13 (NorthernSweden)
              -=0.024406/6460 (TOPMED)
              -=0.024811/92 (TWINSUK)
              -=0.028282/109 (ALSPAC)
              -=0.032064/32 (GoNL)
              HGVS:
              7.

              rs1489231859 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                7:30756557 (GRCh38)
                7:30796173 (GRCh37)
                Canonical SPDI:
                NC_000007.14:30756556:G:A,NC_000007.14:30756556:G:T
                Gene:
                INMT (Varview), INMT-MINDY4 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                A=0.000086/12 (GnomAD)
                HGVS:
                8.

                rs1489231461 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  7:30755838 (GRCh38)
                  7:30795454 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:30755837:A:G
                  Gene:
                  INMT (Varview), INMT-MINDY4 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  9.

                  rs1488927631 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    7:30753965 (GRCh38)
                    7:30793581 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:30753964:G:A
                    Gene:
                    INMT (Varview), INMT-MINDY4 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    10.

                    rs1487003028 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      7:30753235 (GRCh38)
                      7:30792851 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:30753234:C:A
                      Gene:
                      INMT (Varview), INMT-MINDY4 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      11.

                      rs1486480056 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        7:30754885 (GRCh38)
                        7:30794501 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:30754884:G:A,NC_000007.14:30754884:G:T
                        Gene:
                        INMT (Varview), INMT-MINDY4 (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:
                        12.

                        rs1486375607 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A,C [Show Flanks]
                          Chromosome:
                          7:30750147 (GRCh38)
                          7:30789763 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:30750146:T:A,NC_000007.14:30750146:T:C
                          Gene:
                          INMT (Varview), INMT-MINDY4 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          13.

                          rs1486047868 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            7:30750627 (GRCh38)
                            7:30790243 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:30750626:G:A,NC_000007.14:30750626:G:C
                            Gene:
                            INMT (Varview), INMT-MINDY4 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1485830709 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              7:30757669 (GRCh38)
                              7:30797285 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:30757668:T:C
                              Gene:
                              INMT (Varview), INMT-MINDY4 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,intron_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1485549360 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:30753257 (GRCh38)
                                7:30792873 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:30753256:A:G
                                Gene:
                                INMT (Varview), INMT-MINDY4 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000019/5 (TOPMED)
                                HGVS:
                                16.

                                rs1485172412 has merged into rs58472657 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  7:30756416 (GRCh38)
                                  7:30796032 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:30756402:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  INMT (Varview), INMT-MINDY4 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTTTT=0./0 (ALFA)
                                  HGVS:
                                  NC_000007.14:g.30756416_30756421del, NC_000007.14:g.30756417_30756421del, NC_000007.14:g.30756418_30756421del, NC_000007.14:g.30756419_30756421del, NC_000007.14:g.30756420_30756421del, NC_000007.14:g.30756421del, NC_000007.14:g.30756421dup, NC_000007.14:g.30756420_30756421dup, NC_000007.14:g.30756419_30756421dup, NC_000007.14:g.30756418_30756421dup, NC_000007.14:g.30756417_30756421dup, NC_000007.14:g.30756416_30756421dup, NC_000007.14:g.30756415_30756421dup, NC_000007.14:g.30756414_30756421dup, NC_000007.14:g.30756413_30756421dup, NC_000007.14:g.30756412_30756421dup, NC_000007.14:g.30756411_30756421dup, NC_000007.14:g.30756410_30756421dup, NC_000007.14:g.30756409_30756421dup, NC_000007.14:g.30756408_30756421dup, NC_000007.14:g.30756407_30756421dup, NC_000007.14:g.30756406_30756421dup, NC_000007.14:g.30756405_30756421dup, NC_000007.14:g.30756404_30756421dup, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.30756421_30756422insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796032_30796037del, NC_000007.13:g.30796033_30796037del, NC_000007.13:g.30796034_30796037del, NC_000007.13:g.30796035_30796037del, NC_000007.13:g.30796036_30796037del, NC_000007.13:g.30796037del, NC_000007.13:g.30796037dup, NC_000007.13:g.30796036_30796037dup, NC_000007.13:g.30796035_30796037dup, NC_000007.13:g.30796034_30796037dup, NC_000007.13:g.30796033_30796037dup, NC_000007.13:g.30796032_30796037dup, NC_000007.13:g.30796031_30796037dup, NC_000007.13:g.30796030_30796037dup, NC_000007.13:g.30796029_30796037dup, NC_000007.13:g.30796028_30796037dup, NC_000007.13:g.30796027_30796037dup, NC_000007.13:g.30796026_30796037dup, NC_000007.13:g.30796025_30796037dup, NC_000007.13:g.30796024_30796037dup, NC_000007.13:g.30796023_30796037dup, NC_000007.13:g.30796022_30796037dup, NC_000007.13:g.30796021_30796037dup, NC_000007.13:g.30796020_30796037dup, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.30796037_30796038insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9282_9287del, NG_047126.1:g.9283_9287del, NG_047126.1:g.9284_9287del, NG_047126.1:g.9285_9287del, NG_047126.1:g.9286_9287del, NG_047126.1:g.9287del, NG_047126.1:g.9287dup, NG_047126.1:g.9286_9287dup, NG_047126.1:g.9285_9287dup, NG_047126.1:g.9284_9287dup, NG_047126.1:g.9283_9287dup, NG_047126.1:g.9282_9287dup, NG_047126.1:g.9281_9287dup, NG_047126.1:g.9280_9287dup, NG_047126.1:g.9279_9287dup, NG_047126.1:g.9278_9287dup, NG_047126.1:g.9277_9287dup, NG_047126.1:g.9276_9287dup, NG_047126.1:g.9275_9287dup, NG_047126.1:g.9274_9287dup, NG_047126.1:g.9273_9287dup, NG_047126.1:g.9272_9287dup, NG_047126.1:g.9271_9287dup, NG_047126.1:g.9270_9287dup, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047126.1:g.9287_9288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*565_*570del, NM_006774.5:c.*566_*570del, NM_006774.5:c.*567_*570del, NM_006774.5:c.*568_*570del, NM_006774.5:c.*569_*570del, NM_006774.5:c.*570del, NM_006774.5:c.*570dup, NM_006774.5:c.*569_*570dup, NM_006774.5:c.*568_*570dup, NM_006774.5:c.*567_*570dup, NM_006774.5:c.*566_*570dup, NM_006774.5:c.*565_*570dup, NM_006774.5:c.*564_*570dup, NM_006774.5:c.*563_*570dup, NM_006774.5:c.*562_*570dup, NM_006774.5:c.*561_*570dup, NM_006774.5:c.*560_*570dup, NM_006774.5:c.*559_*570dup, NM_006774.5:c.*558_*570dup, NM_006774.5:c.*557_*570dup, NM_006774.5:c.*556_*570dup, NM_006774.5:c.*555_*570dup, NM_006774.5:c.*554_*570dup, NM_006774.5:c.*553_*570dup, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.5:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*565_*570del, NM_006774.4:c.*566_*570del, NM_006774.4:c.*567_*570del, NM_006774.4:c.*568_*570del, NM_006774.4:c.*569_*570del, NM_006774.4:c.*570del, NM_006774.4:c.*570dup, NM_006774.4:c.*569_*570dup, NM_006774.4:c.*568_*570dup, NM_006774.4:c.*567_*570dup, NM_006774.4:c.*566_*570dup, NM_006774.4:c.*565_*570dup, NM_006774.4:c.*564_*570dup, NM_006774.4:c.*563_*570dup, NM_006774.4:c.*562_*570dup, NM_006774.4:c.*561_*570dup, NM_006774.4:c.*560_*570dup, NM_006774.4:c.*559_*570dup, NM_006774.4:c.*558_*570dup, NM_006774.4:c.*557_*570dup, NM_006774.4:c.*556_*570dup, NM_006774.4:c.*555_*570dup, NM_006774.4:c.*554_*570dup, NM_006774.4:c.*553_*570dup, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_006774.4:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*565_*570del, NM_001199219.2:c.*566_*570del, NM_001199219.2:c.*567_*570del, NM_001199219.2:c.*568_*570del, NM_001199219.2:c.*569_*570del, NM_001199219.2:c.*570del, NM_001199219.2:c.*570dup, NM_001199219.2:c.*569_*570dup, NM_001199219.2:c.*568_*570dup, NM_001199219.2:c.*567_*570dup, NM_001199219.2:c.*566_*570dup, NM_001199219.2:c.*565_*570dup, NM_001199219.2:c.*564_*570dup, NM_001199219.2:c.*563_*570dup, NM_001199219.2:c.*562_*570dup, NM_001199219.2:c.*561_*570dup, NM_001199219.2:c.*560_*570dup, NM_001199219.2:c.*559_*570dup, NM_001199219.2:c.*558_*570dup, NM_001199219.2:c.*557_*570dup, NM_001199219.2:c.*556_*570dup, NM_001199219.2:c.*555_*570dup, NM_001199219.2:c.*554_*570dup, NM_001199219.2:c.*553_*570dup, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.2:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*565_*570del, NM_001199219.1:c.*566_*570del, NM_001199219.1:c.*567_*570del, NM_001199219.1:c.*568_*570del, NM_001199219.1:c.*569_*570del, NM_001199219.1:c.*570del, NM_001199219.1:c.*570dup, NM_001199219.1:c.*569_*570dup, NM_001199219.1:c.*568_*570dup, NM_001199219.1:c.*567_*570dup, NM_001199219.1:c.*566_*570dup, NM_001199219.1:c.*565_*570dup, NM_001199219.1:c.*564_*570dup, NM_001199219.1:c.*563_*570dup, NM_001199219.1:c.*562_*570dup, NM_001199219.1:c.*561_*570dup, NM_001199219.1:c.*560_*570dup, NM_001199219.1:c.*559_*570dup, NM_001199219.1:c.*558_*570dup, NM_001199219.1:c.*557_*570dup, NM_001199219.1:c.*556_*570dup, NM_001199219.1:c.*555_*570dup, NM_001199219.1:c.*554_*570dup, NM_001199219.1:c.*553_*570dup, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_001199219.1:c.*570_*571insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  17.

                                  rs1484707102 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    7:30752120 (GRCh38)
                                    7:30791736 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:30752119:T:C,NC_000007.14:30752119:T:G
                                    Gene:
                                    INMT (Varview), INMT-MINDY4 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000566/9 (TOMMO)
                                    HGVS:
                                    18.

                                    rs1484685488 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:30751148 (GRCh38)
                                      7:30790764 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:30751147:C:T
                                      Gene:
                                      INMT (Varview), INMT-MINDY4 (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000015/4 (TOPMED)
                                      T=0.000043/6 (GnomAD)
                                      T=0.00006/1 (TOMMO)
                                      HGVS:
                                      19.

                                      rs1484274070 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        7:30754803 (GRCh38)
                                        7:30794419 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:30754802:C:T
                                        Gene:
                                        INMT (Varview), INMT-MINDY4 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1484184200 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          7:30751029 (GRCh38)
                                          7:30790645 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:30751028:G:C
                                          Gene:
                                          INMT (Varview), INMT-MINDY4 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:

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