ClinVar Miner

List of variants reported as uncertain significance for acute hepatic porphyria

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 165
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HGVS dbSNP
NM_000031.5(ALAD):c.*106C>G rs8177820
NM_000031.5(ALAD):c.*127C>T rs561104906
NM_000031.5(ALAD):c.*1464A>G rs559359572
NM_000031.5(ALAD):c.*1470G>A rs886063360
NM_000031.5(ALAD):c.*1511T>C rs745513769
NM_000031.5(ALAD):c.*1631G>A rs886063359
NM_000031.5(ALAD):c.*1675C>T rs756771103
NM_000031.5(ALAD):c.*1741G>A rs886063358
NM_000031.5(ALAD):c.*1864A>C rs886063357
NM_000031.5(ALAD):c.*1915delA rs886063356
NM_000031.5(ALAD):c.*381G>A rs886063363
NM_000031.5(ALAD):c.*400G>A rs557867804
NM_000031.5(ALAD):c.*422G>T rs41276805
NM_000031.5(ALAD):c.*438G>C rs886063362
NM_000031.5(ALAD):c.*459_*463delGTTGA rs886063361
NM_000031.5(ALAD):c.*676dupA rs532401659
NM_000031.5(ALAD):c.*813A>G rs138705750
NM_000031.5(ALAD):c.-131C>T rs531786276
NM_000031.5(ALAD):c.-156C>A rs562413861
NM_000031.5(ALAD):c.-156_-155insGC rs879417667
NM_000031.5(ALAD):c.-158_-155dupCCCC rs143518565
NM_000031.5(ALAD):c.-160_-159insA rs886063365
NM_000031.5(ALAD):c.-197G>T rs376588496
NM_000031.5(ALAD):c.-4C>T rs755977870
NM_000031.5(ALAD):c.-76+15G>T rs756965057
NM_000031.5(ALAD):c.15C>T (p.Ser5=) rs144608303
NM_000031.5(ALAD):c.16G>A (p.Val6Ile) rs766501537
NM_000031.5(ALAD):c.1A>G (p.Met1Val) rs752500552
NM_000031.5(ALAD):c.264C>T (p.Asp88=) rs377534006
NM_000031.5(ALAD):c.29G>C (p.Gly10Ala) rs199655229
NM_000031.5(ALAD):c.439C>T (p.Arg147Cys) rs777664535
NM_000031.5(ALAD):c.501G>A (p.Pro167=) rs376714503
NM_000031.5(ALAD):c.520C>T (p.Arg174Cys) rs758622234
NM_000031.5(ALAD):c.521G>A (p.Arg174His) rs750462706
NM_000031.5(ALAD):c.678G>T (p.Leu226=) rs190497588
NM_000031.5(ALAD):c.715-14C>A rs201135240
NM_000031.5(ALAD):c.724G>A (p.Val242Ile) rs200180791
NM_000031.5(ALAD):c.72C>T (p.Thr24=) rs1805314
NM_000031.5(ALAD):c.897C>T (p.Ala299=) rs370242589
NM_000031.5(ALAD):c.931+15G>A rs886063364
NM_000031.5(ALAD):c.940A>G (p.Ile314Val) rs557510313
NM_000097.5(CPOX):c.*1076G>A rs775384142
NM_000097.5(CPOX):c.*1153G>C rs886058941
NM_000097.5(CPOX):c.*1174G>A rs886058940
NM_000097.5(CPOX):c.*194G>T rs886058946
NM_000097.5(CPOX):c.*340A>G rs886058945
NM_000097.5(CPOX):c.*498_*499insCA rs886058944
NM_000097.5(CPOX):c.*506C>T rs886058943
NM_000097.5(CPOX):c.*633A>C rs886058942
NM_000097.5(CPOX):c.*66G>A rs886058947
NM_000097.5(CPOX):c.-43G>C rs763595872
NM_000097.5(CPOX):c.1108A>G (p.Lys370Glu) rs778583962
NM_000097.5(CPOX):c.125G>C (p.Ser42Thr) rs886058951
NM_000097.5(CPOX):c.130G>T (p.Ala44Ser) rs886058950
NM_000097.5(CPOX):c.156C>G (p.Gly52=) rs886058949
NM_000097.5(CPOX):c.167C>T (p.Thr56Met) rs886058948
NM_000097.5(CPOX):c.299A>T (p.Glu100Val) rs367822877
NM_000097.5(CPOX):c.348G>C (p.Pro116=) rs140566686
NM_000097.5(CPOX):c.487G>T (p.Val163Leu) rs535432218
NM_000097.5(CPOX):c.651A>G (p.Glu217=) rs138479596
NM_000097.5(CPOX):c.86A>C (p.Gln29Pro) rs886058952
NM_000097.7(CPOX):c.-10G>A rs867711777
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
NM_000190.3(HMBS):c.737G>A (p.Arg246His) rs201909197
NM_000190.4(HMBS):c.*101G>A rs565181447
NM_000190.4(HMBS):c.*194A>G rs886047756
NM_000190.4(HMBS):c.*94T>C rs886047755
NM_000190.4(HMBS):c.1020C>T (p.Asn340=) rs146585331
NM_000190.4(HMBS):c.1026G>A (p.Leu342=) rs199845143
NM_000190.4(HMBS):c.105G>C (p.Thr35=) rs370081222
NM_000190.4(HMBS):c.135G>A (p.Ser45=) rs146801283
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621
NM_000190.4(HMBS):c.345-9C>T rs772934410
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.674G>A (p.Arg225Gln) rs142459647
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr) rs1057519252
NM_000309.4(PPOX):c.-113A>G rs886045451
NM_000309.4(PPOX):c.-119T>C rs886045450
NM_000309.4(PPOX):c.-185G>T rs114493458
NM_000309.4(PPOX):c.-190G>C rs368129128
NM_000309.4(PPOX):c.-1C>T rs148045152
NM_000309.4(PPOX):c.-2G>T rs779526273
NM_000309.4(PPOX):c.-88G>T rs186428034
NM_000309.4(PPOX):c.-90G>T rs115158839
NM_000309.4(PPOX):c.1062T>C (p.Pro354=) rs771215757
NM_000309.4(PPOX):c.1087C>G (p.Leu363Val) rs886045455
NM_000309.4(PPOX):c.1248+4A>G rs775748399
NM_000309.4(PPOX):c.1303C>T (p.Gln435Ter) rs754313121
NM_000309.4(PPOX):c.338+9A>G rs886045453
NM_000309.4(PPOX):c.360C>T (p.Pro120=) rs148730591
NM_000309.4(PPOX):c.471+3G>A rs200920978
NM_000309.4(PPOX):c.522C>T (p.Asn174=) rs886045454
NM_000309.4(PPOX):c.617-6C>T rs200192089
NM_000309.4(PPOX):c.646A>G (p.Ile216Val) rs758572020
NM_000309.4(PPOX):c.69G>T (p.Arg23=) rs886045452
NM_000309.4(PPOX):c.87+13C>T rs201155115
NM_000309.4(PPOX):c.936G>A (p.Val312=) rs751511778
NM_000374.4(UROD):c.*45C>T rs371078664
NM_000374.4(UROD):c.*80A>G rs144315045
NM_000374.4(UROD):c.-1C>T rs886046364
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_000374.4(UROD):c.450G>A (p.Pro150=) rs2234479
NM_000374.4(UROD):c.474+15G>C rs369108963
NM_000374.4(UROD):c.693G>A (p.Lys231=) rs143180539
NM_000374.4(UROD):c.738C>T (p.Ala246=) rs757178659
NM_000374.5(UROD):c.-57dup rs777548921
NM_000410.3(HFE):c.193A>T (p.Ser65Cys) rs1800730

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