ClinVar Miner

List of variants in gene FECH reported as likely benign for acute hepatic porphyria

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_000140.4(FECH):c.*1032G>A rs140863287
NM_000140.4(FECH):c.*1039G>A rs185134664
NM_000140.4(FECH):c.*1054T>C rs192343321
NM_000140.4(FECH):c.*1479T>C rs112062178
NM_000140.4(FECH):c.*1508G>A rs540286571
NM_000140.4(FECH):c.*1567A>G rs574153215
NM_000140.4(FECH):c.*1915G>T rs148459563
NM_000140.4(FECH):c.*2443T>G rs201834035
NM_000140.4(FECH):c.*2644A>G rs558443758
NM_000140.4(FECH):c.*2788G>A rs145954113
NM_000140.4(FECH):c.*2840C>T rs568628377
NM_000140.4(FECH):c.*3129C>T rs137955859
NM_000140.4(FECH):c.*3170T>C rs75976774
NM_000140.4(FECH):c.*3339G>A rs113928110
NM_000140.4(FECH):c.*347G>A rs113392534
NM_000140.4(FECH):c.*3567G>A rs556538397
NM_000140.4(FECH):c.*3691C>T rs148141502
NM_000140.4(FECH):c.*3716C>T rs567960865
NM_000140.4(FECH):c.*3804G>A rs190604320
NM_000140.4(FECH):c.*3841C>T rs143797631
NM_000140.4(FECH):c.*4056C>T rs181920623
NM_000140.4(FECH):c.*4367C>T rs146417207
NM_000140.4(FECH):c.*4368G>A rs543603003
NM_000140.4(FECH):c.*4445G>A rs578202706
NM_000140.4(FECH):c.*4458C>T rs113000324
NM_000140.4(FECH):c.*4597T>C rs147684323
NM_000140.4(FECH):c.*4793_*4795TTA[1] rs137860528
NM_000140.4(FECH):c.*4829C>T rs565989254
NM_000140.4(FECH):c.*4883_*4884insC rs201434287
NM_000140.4(FECH):c.*5139C>T rs151197779
NM_000140.4(FECH):c.*5140G>A rs55987829
NM_000140.4(FECH):c.*5143C>T rs139987131
NM_000140.4(FECH):c.*5394G>T rs145935279
NM_000140.4(FECH):c.*571G>A rs114617188
NM_000140.4(FECH):c.*5801T>G rs139119026
NM_000140.4(FECH):c.*592C>T rs577112809
NM_000140.4(FECH):c.*892T>C rs13271
NM_000140.4(FECH):c.*936C>T rs144709743
NM_000140.4(FECH):c.132C>T (p.Ala44=) rs147500247
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.362A>G (p.Glu121Gly) rs141813907
NM_000140.4(FECH):c.385G>A (p.Gly129Arg) rs138714094
NM_000140.4(FECH):c.514G>A (p.Glu172Lys) rs200650502
NM_000140.4(FECH):c.801G>A (p.Met267Ile) rs118204037
NM_000140.4(FECH):c.913-13A>G rs200538834
NM_000140.4(FECH):c.913-7C>T rs369538477

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