ClinVar Miner

List of variants in gene FECH reported as uncertain significance for acute hepatic porphyria

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_000140.3(FECH):c.*2446_*2450delGTTTT rs886053981
NM_000140.4(FECH):c.*1071C>G rs886053992
NM_000140.4(FECH):c.*1170T>A rs886053991
NM_000140.4(FECH):c.*1170_*1176delTAAATGGinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA rs886053988
NM_000140.4(FECH):c.*1173A>T rs868017208
NM_000140.4(FECH):c.*1175G>A rs886053990
NM_000140.4(FECH):c.*1176G>A rs886053989
NM_000140.4(FECH):c.*1287T>A rs113654252
NM_000140.4(FECH):c.*1287_*1288insTTTA rs59569925
NM_000140.4(FECH):c.*1348T>G rs886053987
NM_000140.4(FECH):c.*136G>C rs886053995
NM_000140.4(FECH):c.*1453T>C rs886053986
NM_000140.4(FECH):c.*1950A>G rs886053985
NM_000140.4(FECH):c.*1966G>T rs779669357
NM_000140.4(FECH):c.*2060C>T rs886053984
NM_000140.4(FECH):c.*2079C>T rs886053983
NM_000140.4(FECH):c.*2441G>T rs886053982
NM_000140.4(FECH):c.*2446G>T rs4940895
NM_000140.4(FECH):c.*2450_*2451insG rs886053980
NM_000140.4(FECH):c.*2451_*2452insG rs1555678907
NM_000140.4(FECH):c.*2459_*2461dup rs529946604
NM_000140.4(FECH):c.*2513G>A rs886053978
NM_000140.4(FECH):c.*2599C>T rs886053977
NM_000140.4(FECH):c.*2600G>A rs886053976
NM_000140.4(FECH):c.*2782G>T rs886053975
NM_000140.4(FECH):c.*3656C>T rs886053974
NM_000140.4(FECH):c.*3719C>T rs886053973
NM_000140.4(FECH):c.*3753_*3754insT rs886053972
NM_000140.4(FECH):c.*3788A>G rs886053971
NM_000140.4(FECH):c.*394C>G rs781751487
NM_000140.4(FECH):c.*3976C>T rs886053970
NM_000140.4(FECH):c.*4077C>T rs548648988
NM_000140.4(FECH):c.*4237A>G rs886053969
NM_000140.4(FECH):c.*4336A>G rs769571284
NM_000140.4(FECH):c.*4337G>A rs747976113
NM_000140.4(FECH):c.*4363G>A rs375097125
NM_000140.4(FECH):c.*443A>C rs886053994
NM_000140.4(FECH):c.*4449A>G rs886053968
NM_000140.4(FECH):c.*4528C>T rs564734119
NM_000140.4(FECH):c.*4598T>G rs886053967
NM_000140.4(FECH):c.*4720T>C rs760022638
NM_000140.4(FECH):c.*5090G>A rs776370345
NM_000140.4(FECH):c.*5170T>C rs886053966
NM_000140.4(FECH):c.*5247T>C rs375220859
NM_000140.4(FECH):c.*5349C>T rs189146107
NM_000140.4(FECH):c.*55C>T rs886053997
NM_000140.4(FECH):c.*60T>C rs886053996
NM_000140.4(FECH):c.*825T>C rs886053993
NM_000140.4(FECH):c.139A>G (p.Thr47Ala) rs144831860
NM_000140.4(FECH):c.185C>G (p.Pro62Arg)
NM_000140.4(FECH):c.202A>G (p.Lys68Glu) rs756377185
NM_000140.4(FECH):c.598+12T>A rs370521491
NM_000140.4(FECH):c.819C>T (p.Gly273=) rs138840143
NM_000140.4(FECH):c.912+14A>G rs886053999
NM_000140.4(FECH):c.935G>T (p.Gly312Val) rs886053998

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