ClinVar Miner

List of variants reported as likely benign for acute hepatic porphyria

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
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HGVS dbSNP
NM_000031.6(ALAD):c.*1811_*1812del rs142213018
NM_000031.6(ALAD):c.*613G>A rs818707
NM_000031.6(ALAD):c.*871C>A rs8177822
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435
NM_000031.6(ALAD):c.397+12C>T rs8177805
NM_000031.6(ALAD):c.414C>T (p.Asn138=) rs2228083
NM_000031.6(ALAD):c.463T>C (p.Leu155=) rs8177807
NM_000097.7(CPOX):c.*1072C>T rs148251059
NM_000097.7(CPOX):c.*1105A>G rs73133922
NM_000097.7(CPOX):c.*136G>C rs142440038
NM_000097.7(CPOX):c.*227G>A rs146214523
NM_000097.7(CPOX):c.*28del rs144234554
NM_000097.7(CPOX):c.*381C>T rs141236816
NM_000097.7(CPOX):c.*73T>C rs139447447
NM_000097.7(CPOX):c.*939A>G rs539237301
NM_000097.7(CPOX):c.*95G>A rs2229123
NM_000097.7(CPOX):c.-54C>T rs75986763
NM_000097.7(CPOX):c.-55G>C rs115030377
NM_000097.7(CPOX):c.-56G>C rs184287214
NM_000097.7(CPOX):c.1172+14A>G rs16839985
NM_000097.7(CPOX):c.1266T>A (p.Pro422=) rs563304155
NM_000097.7(CPOX):c.165C>T (p.Gly55=) rs563975822
NM_000097.7(CPOX):c.252G>A (p.Gly84=) rs376917019
NM_000097.7(CPOX):c.284A>G (p.His95Arg) rs192332456
NM_000097.7(CPOX):c.337C>T (p.Leu113=) rs146543713
NM_000097.7(CPOX):c.395C>T (p.Ala132Val) rs147219463
NM_000097.7(CPOX):c.556+9G>A rs184983281
NM_000097.7(CPOX):c.612G>A (p.Gly204=) rs149384011
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
NM_000190.4(HMBS):c.-28A>C rs201349602
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) rs144949995
NM_000190.4(HMBS):c.210+5C>A rs79983883
NM_000190.4(HMBS):c.303C>T (p.Pro101=) rs139147408
NM_000190.4(HMBS):c.612+4G>A rs745705652
NM_000190.4(HMBS):c.717C>T (p.His239=) rs114025170
NM_000190.4(HMBS):c.723C>T (p.Pro241=) rs202067277
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000374.5(UROD):c.*3G>A rs74349352
NM_000374.5(UROD):c.-134T>G rs7536892
NM_000374.5(UROD):c.603A>G (p.Pro201=) rs2228084
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115
NM_001003945.2(ALAD):c.-234C>G rs7026518
NM_001003945.2(ALAD):c.-234dup rs143518565
NM_001003945.2(ALAD):c.-235_-234dup rs143518565
NM_001003945.2(ALAD):c.-256C>T rs28550589
NM_001122764.3(PPOX):c.-128C>G rs72714915
NM_001122764.3(PPOX):c.-247C>A rs2301286
NM_001122764.3(PPOX):c.911G>A (p.Arg304His) rs36013429
NM_001382.4(DPAGT1):c.*159G>A rs74992671
NM_001382.4(DPAGT1):c.*265A>G rs28990974
NM_001382.4(DPAGT1):c.*427T>G rs28990975
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311

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