ClinVar Miner

List of variants in gene FECH studied for acute hepatic porphyria

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP
NM_000140.3(FECH):c.1078_1137del rs879255507
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
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.*1071C>G rs886053992
NM_000140.4(FECH):c.*1170T>A rs886053991
NM_000140.4(FECH):c.*1170_*1176delinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA 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.*117C>T rs8099115
NM_000140.4(FECH):c.*1287T>A rs113654252
NM_000140.4(FECH):c.*1287_*1288insTA rs59569925
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.*1479T>C rs112062178
NM_000140.4(FECH):c.*1508G>A rs540286571
NM_000140.4(FECH):c.*1567A>G rs574153215
NM_000140.4(FECH):c.*1622T>C rs78359676
NM_000140.4(FECH):c.*1915G>T rs148459563
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.*2371T>G rs1062010
NM_000140.4(FECH):c.*2436_*2440GTTTT[2] rs886053981
NM_000140.4(FECH):c.*2441G>T rs886053982
NM_000140.4(FECH):c.*2443T>G rs201834035
NM_000140.4(FECH):c.*2446G>T rs4940895
NM_000140.4(FECH):c.*2450_*2451insG rs886053980
NM_000140.4(FECH):c.*2451T>G rs55769459
NM_000140.4(FECH):c.*2451_*2452insG rs1555678907
NM_000140.4(FECH):c.*2459_*2461dup rs529946604
NM_000140.4(FECH):c.*2461dup rs529946604
NM_000140.4(FECH):c.*248C>T rs8339
NM_000140.4(FECH):c.*2513G>A rs886053978
NM_000140.4(FECH):c.*2526T>C rs2723680
NM_000140.4(FECH):c.*2599C>T rs886053977
NM_000140.4(FECH):c.*2600G>A rs886053976
NM_000140.4(FECH):c.*2644A>G rs558443758
NM_000140.4(FECH):c.*2739T>C rs111695226
NM_000140.4(FECH):c.*2782G>T rs886053975
NM_000140.4(FECH):c.*2788G>A rs145954113
NM_000140.4(FECH):c.*2825A>G rs8090261
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.*3377G>T rs480942
NM_000140.4(FECH):c.*347G>A rs113392534
NM_000140.4(FECH):c.*3567G>A rs556538397
NM_000140.4(FECH):c.*3601A>G rs73453635
NM_000140.4(FECH):c.*3656C>T rs886053974
NM_000140.4(FECH):c.*3691C>T rs148141502
NM_000140.4(FECH):c.*3716C>T rs567960865
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.*3804G>A rs190604320
NM_000140.4(FECH):c.*3841C>T rs143797631
NM_000140.4(FECH):c.*394C>G rs781751487
NM_000140.4(FECH):c.*3976C>T rs886053970
NM_000140.4(FECH):c.*4056C>T rs181920623
NM_000140.4(FECH):c.*4077C>T rs548648988
NM_000140.4(FECH):c.*4106A>G rs72940306
NM_000140.4(FECH):c.*422T>A rs3760612
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.*4367C>T rs146417207
NM_000140.4(FECH):c.*4368G>A rs543603003
NM_000140.4(FECH):c.*443A>C rs886053994
NM_000140.4(FECH):c.*4445G>A rs578202706
NM_000140.4(FECH):c.*4449A>G rs886053968
NM_000140.4(FECH):c.*4458C>T rs113000324
NM_000140.4(FECH):c.*4463A>G rs7228449
NM_000140.4(FECH):c.*4528C>T rs564734119
NM_000140.4(FECH):c.*4563G>T rs663774
NM_000140.4(FECH):c.*4597T>C rs147684323
NM_000140.4(FECH):c.*4598T>G rs886053967
NM_000140.4(FECH):c.*4720T>C rs760022638
NM_000140.4(FECH):c.*4793_*4795TTA[1] rs137860528
NM_000140.4(FECH):c.*481A>G rs3760613
NM_000140.4(FECH):c.*4829C>T rs565989254
NM_000140.4(FECH):c.*4883_*4884insC rs201434287
NM_000140.4(FECH):c.*4886T>G rs7238897
NM_000140.4(FECH):c.*4891dup rs146687823
NM_000140.4(FECH):c.*4971A>G rs114530851
NM_000140.4(FECH):c.*5090G>A rs776370345
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.*5170T>C rs886053966
NM_000140.4(FECH):c.*5247T>C rs375220859
NM_000140.4(FECH):c.*5349C>T rs189146107
NM_000140.4(FECH):c.*5394G>T rs145935279
NM_000140.4(FECH):c.*5588G>A rs78224804
NM_000140.4(FECH):c.*55C>T rs886053997
NM_000140.4(FECH):c.*5628C>A rs13732
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.*60T>C rs886053996
NM_000140.4(FECH):c.*696C>T rs76175837
NM_000140.4(FECH):c.*825T>C rs886053993
NM_000140.4(FECH):c.*892T>C rs13271
NM_000140.4(FECH):c.*936C>T rs144709743
NM_000140.4(FECH):c.1001C>T (p.Pro334Leu) rs150146721
NM_000140.4(FECH):c.1077+1G>A rs786205245
NM_000140.4(FECH):c.1085T>G (p.Val362Gly) rs118204040
NM_000140.4(FECH):c.1136del (p.Lys379fs) rs764466739
NM_000140.4(FECH):c.1137+3A>G rs202147607
NM_000140.4(FECH):c.1250T>C (p.Phe417Ser) rs118204039
NM_000140.4(FECH):c.132C>T (p.Ala44=) rs147500247
NM_000140.4(FECH):c.139A>G (p.Thr47Ala) rs144831860
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.185C>G (p.Pro62Arg) rs150830931
NM_000140.4(FECH):c.194+11A>G rs786205247
NM_000140.4(FECH):c.202A>G (p.Lys68Glu) rs756377185
NM_000140.4(FECH):c.287G>A (p.Arg96Gln) rs1041951
NM_000140.4(FECH):c.314+2T>G rs149067146
NM_000140.4(FECH):c.314+6A>C rs786205246
NM_000140.4(FECH):c.315-48T>C rs2272783
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.553G>A (p.Ala185Thr) rs397514476
NM_000140.4(FECH):c.580_584del (p.Tyr194fs) rs786205248
NM_000140.4(FECH):c.598+12T>A rs370521491
NM_000140.4(FECH):c.798C>G (p.Pro266=) rs536765
NM_000140.4(FECH):c.801G>A (p.Met267Ile) rs118204037
NM_000140.4(FECH):c.819C>T (p.Gly273=) rs138840143
NM_000140.4(FECH):c.820G>A (p.Asp274Asn) rs146269992
NM_000140.4(FECH):c.854A>G (p.Gln285Arg) rs370708663
NM_000140.4(FECH):c.912+14A>G rs886053999
NM_000140.4(FECH):c.913-13A>G rs200538834
NM_000140.4(FECH):c.913-7C>T rs369538477
NM_000140.4(FECH):c.913G>T (p.Val305Phe) rs765518889
NM_000140.4(FECH):c.921A>G (p.Pro307=) rs536560
NM_000140.4(FECH):c.935G>T (p.Gly312Val) rs886053998
NM_001012515.3(FECH):c.68-23C>T rs2269219

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