ClinVar Miner

List of variants reported as uncertain significance for acute hepatic porphyria

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 231
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HGVS dbSNP
NM_000031.6(ALAD):c.*1007G>A
NM_000031.6(ALAD):c.*106C>G rs8177820
NM_000031.6(ALAD):c.*127C>T rs561104906
NM_000031.6(ALAD):c.*1280G>A
NM_000031.6(ALAD):c.*1280G>C
NM_000031.6(ALAD):c.*12C>T
NM_000031.6(ALAD):c.*1322G>A
NM_000031.6(ALAD):c.*1464A>G rs559359572
NM_000031.6(ALAD):c.*1470G>A rs886063360
NM_000031.6(ALAD):c.*1511T>C rs745513769
NM_000031.6(ALAD):c.*1631G>A rs886063359
NM_000031.6(ALAD):c.*1671A>T
NM_000031.6(ALAD):c.*1675C>T rs756771103
NM_000031.6(ALAD):c.*1741G>A rs886063358
NM_000031.6(ALAD):c.*1787A>C
NM_000031.6(ALAD):c.*1804T>C
NM_000031.6(ALAD):c.*1832T>C
NM_000031.6(ALAD):c.*1864A>C rs886063357
NM_000031.6(ALAD):c.*1915del rs886063356
NM_000031.6(ALAD):c.*234G>A
NM_000031.6(ALAD):c.*363G>A
NM_000031.6(ALAD):c.*381G>A rs886063363
NM_000031.6(ALAD):c.*400G>A rs557867804
NM_000031.6(ALAD):c.*422G>T rs41276805
NM_000031.6(ALAD):c.*438G>C rs886063362
NM_000031.6(ALAD):c.*459_*463del rs886063361
NM_000031.6(ALAD):c.*498C>T
NM_000031.6(ALAD):c.*643G>T
NM_000031.6(ALAD):c.*676dup rs532401659
NM_000031.6(ALAD):c.*760T>C
NM_000031.6(ALAD):c.*920C>T
NM_000031.6(ALAD):c.-70G>T
NM_000031.6(ALAD):c.-75-11A>G
NM_000031.6(ALAD):c.-76+15G>T rs756965057
NM_000031.6(ALAD):c.16G>A (p.Val6Ile) rs766501537
NM_000031.6(ALAD):c.1A>G (p.Met1Val) rs752500552
NM_000031.6(ALAD):c.241G>A (p.Val81Ile)
NM_000031.6(ALAD):c.264C>T (p.Asp88=) rs377534006
NM_000031.6(ALAD):c.277G>A (p.Ala93Thr)
NM_000031.6(ALAD):c.29G>C (p.Gly10Ala) rs199655229
NM_000031.6(ALAD):c.439C>T (p.Arg147Cys) rs777664535
NM_000031.6(ALAD):c.474C>G (p.Ala158=)
NM_000031.6(ALAD):c.501G>A (p.Pro167=) rs376714503
NM_000031.6(ALAD):c.520C>T (p.Arg174Cys) rs758622234
NM_000031.6(ALAD):c.521G>A (p.Arg174His) rs750462706
NM_000031.6(ALAD):c.678G>T (p.Leu226=) rs190497588
NM_000031.6(ALAD):c.715-14C>A rs201135240
NM_000031.6(ALAD):c.715G>A (p.Asp239Asn) rs752186527
NM_000031.6(ALAD):c.724G>A (p.Val242Ile) rs200180791
NM_000031.6(ALAD):c.770A>G (p.Tyr257Cys)
NM_000031.6(ALAD):c.784C>T (p.Arg262Trp) rs777485356
NM_000031.6(ALAD):c.801+14C>T
NM_000031.6(ALAD):c.870G>A (p.Gln290=)
NM_000031.6(ALAD):c.897C>T (p.Ala299=) rs370242589
NM_000031.6(ALAD):c.910A>G (p.Met304Val)
NM_000031.6(ALAD):c.931+15G>A rs886063364
NM_000031.6(ALAD):c.940A>G (p.Ile314Val) rs557510313
NM_000097.7(CPOX):c.*1046A>G
NM_000097.7(CPOX):c.*1076G>A rs775384142
NM_000097.7(CPOX):c.*1153G>C rs886058941
NM_000097.7(CPOX):c.*1174G>A rs886058940
NM_000097.7(CPOX):c.*183A>G
NM_000097.7(CPOX):c.*194G>T rs886058946
NM_000097.7(CPOX):c.*340A>G rs886058945
NM_000097.7(CPOX):c.*351A>G
NM_000097.7(CPOX):c.*498_*499insCA rs886058944
NM_000097.7(CPOX):c.*506C>T rs886058943
NM_000097.7(CPOX):c.*516A>C
NM_000097.7(CPOX):c.*633A>C rs886058942
NM_000097.7(CPOX):c.*66G>A rs886058947
NM_000097.7(CPOX):c.*712T>C
NM_000097.7(CPOX):c.*745A>G
NM_000097.7(CPOX):c.*939A>G rs539237301
NM_000097.7(CPOX):c.-10G>A rs867711777
NM_000097.7(CPOX):c.-43G>C rs763595872
NM_000097.7(CPOX):c.-7C>G
NM_000097.7(CPOX):c.-86C>T
NM_000097.7(CPOX):c.-87C>T
NM_000097.7(CPOX):c.1173G>T (p.Arg391=)
NM_000097.7(CPOX):c.1230A>G (p.Pro410=)
NM_000097.7(CPOX):c.125G>C (p.Ser42Thr) rs886058951
NM_000097.7(CPOX):c.130G>T (p.Ala44Ser) rs886058950
NM_000097.7(CPOX):c.156C>G (p.Gly52=) rs886058949
NM_000097.7(CPOX):c.167C>T (p.Thr56Met) rs886058948
NM_000097.7(CPOX):c.348G>C (p.Pro116=) rs140566686
NM_000097.7(CPOX):c.458A>T (p.Glu153Val)
NM_000097.7(CPOX):c.474G>C (p.Glu158Asp)
NM_000097.7(CPOX):c.530C>T (p.Ser177Phe)
NM_000097.7(CPOX):c.811+14G>A
NM_000097.7(CPOX):c.86A>C (p.Gln29Pro) rs886058952
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.*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.*2436_*2440GTTTT[2] rs886053981
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) rs150830931
NM_000140.4(FECH):c.202A>G (p.Lys68Glu) rs756377185
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
NM_000140.5(FECH):c.1078-6A>G
NM_000140.5(FECH):c.464-4A>G
NM_000190.4(HMBS):c.*101G>A rs565181447
NM_000190.4(HMBS):c.*153G>A
NM_000190.4(HMBS):c.*194A>G rs886047756
NM_000190.4(HMBS):c.*94T>C rs886047755
NM_000190.4(HMBS):c.-28A>C rs201349602
NM_000190.4(HMBS):c.160A>C (p.Ile54Leu) rs368061837
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621
NM_000190.4(HMBS):c.26C>A (p.Ala9Glu) rs148084355
NM_000190.4(HMBS):c.345-9C>T rs772934410
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln) rs1165046276
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.615C>G (p.Ile205Met) rs774594843
NM_000190.4(HMBS):c.654G>A (p.Gly218=)
NM_000190.4(HMBS):c.674G>A (p.Arg225Gln) rs142459647
NM_000190.4(HMBS):c.723C>G (p.Pro241=)
NM_000190.4(HMBS):c.737G>A (p.Arg246His) rs201909197
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113
NM_000190.4(HMBS):c.768C>A (p.His256Gln)
NM_000190.4(HMBS):c.798C>T (p.Ala266=)
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr) rs1057519252
NM_000190.4(HMBS):c.885G>A (p.Met295Ile)
NM_000190.4(HMBS):c.889G>T (p.Ala297Ser)
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser)
NM_000190.4(HMBS):c.974G>A (p.Arg325Gln)
NM_000374.4(UROD):c.*80A>G rs144315045
NM_000374.4(UROD):c.-51T>C rs370067756
NM_000374.4(UROD):c.-52C>A rs41269103
NM_000374.4(UROD):c.-67G>A rs767012968
NM_000374.5(UROD):c.*45C>T rs371078664
NM_000374.5(UROD):c.*70G>A
NM_000374.5(UROD):c.-1C>T rs886046364
NM_000374.5(UROD):c.-57dup rs777548921
NM_000374.5(UROD):c.158A>G (p.Gln53Arg) rs199597323
NM_000374.5(UROD):c.21-12C>T
NM_000374.5(UROD):c.240T>G (p.Ala80=)
NM_000374.5(UROD):c.27G>C (p.Gln9His)
NM_000374.5(UROD):c.383C>A (p.Ala128Asp)
NM_000374.5(UROD):c.390G>T (p.Glu130Asp)
NM_000374.5(UROD):c.442C>T (p.Arg148Cys)
NM_000374.5(UROD):c.463G>A (p.Ala155Thr)
NM_000374.5(UROD):c.474+15G>C rs369108963
NM_000374.5(UROD):c.561T>C (p.Ala187=)
NM_000374.5(UROD):c.578G>A (p.Arg193His)
NM_000374.5(UROD):c.679C>G (p.Gln227Glu)
NM_000374.5(UROD):c.693G>A (p.Lys231=) rs143180539
NM_000374.5(UROD):c.738C>T (p.Ala246=) rs757178659
NM_000374.5(UROD):c.745C>T (p.Arg249Trp)
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115
NM_000374.5(UROD):c.774+12G>A
NM_000410.3(HFE):c.193A>T (p.Ser65Cys) rs1800730
NM_001003945.2(ALAD):c.-235C>A rs562413861
NM_001003945.2(ALAD):c.-235_-234insGC rs879417667
NM_001003945.2(ALAD):c.-237_-234dup rs143518565
NM_001003945.2(ALAD):c.-239_-238insA rs886063365
NM_001003945.2(ALAD):c.-276G>T rs376588496
NM_001122764.3(PPOX):c.-149G>T rs186428034
NM_001122764.3(PPOX):c.-174A>G rs886045451
NM_001122764.3(PPOX):c.-180T>C rs886045450
NM_001122764.3(PPOX):c.-1C>T rs148045152
NM_001122764.3(PPOX):c.-211C>A
NM_001122764.3(PPOX):c.-246G>T rs114493458
NM_001122764.3(PPOX):c.-251G>C rs368129128
NM_001122764.3(PPOX):c.-2G>T rs779526273
NM_001122764.3(PPOX):c.1062T>C (p.Pro354=) rs771215757
NM_001122764.3(PPOX):c.1087C>G (p.Leu363Val) rs886045455
NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu)
NM_001122764.3(PPOX):c.1248+4A>G rs775748399
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter) rs754313121
NM_001122764.3(PPOX):c.1318C>T (p.His440Tyr)
NM_001122764.3(PPOX):c.338+9A>G rs886045453
NM_001122764.3(PPOX):c.349C>T (p.Arg117Cys)
NM_001122764.3(PPOX):c.360C>T (p.Pro120=) rs148730591
NM_001122764.3(PPOX):c.471+3G>A rs200920978
NM_001122764.3(PPOX):c.522C>T (p.Asn174=) rs886045454
NM_001122764.3(PPOX):c.559C>T (p.Leu187Phe)
NM_001122764.3(PPOX):c.597G>T (p.Leu199=)
NM_001122764.3(PPOX):c.617-6C>T rs200192089
NM_001122764.3(PPOX):c.646A>G (p.Ile216Val) rs758572020
NM_001122764.3(PPOX):c.649C>T (p.Arg217Cys)
NM_001122764.3(PPOX):c.69G>T (p.Arg23=) rs886045452
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723
NM_001122764.3(PPOX):c.844G>A (p.Val282Ile)
NM_001122764.3(PPOX):c.87+13C>T rs201155115
NM_001122764.3(PPOX):c.936G>A (p.Val312=) rs751511778

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