ClinVar Miner

List of variants reported as pathogenic for acute hepatic porphyria by OMIM

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP
ALAD, IVS3AS, C-A, -11
HMBS, 2-BP DEL, 218AG
HMBS, 2-BP DEL, 847TG
HMBS, 9-BP DEL, EX10
HMBS, ALU INS
HMBS, EX12DEL
HMBS, IVS14DS, G-A, +1
NM_000031.6(ALAD):c.165-11C>T rs749066913
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) rs121912982
NM_000031.6(ALAD):c.820G>A (p.Ala274Thr) rs121912983
NM_000031.6(ALAD):c.823G>A (p.Val275Met) rs121912981
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter) rs397514730
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs) rs879255567
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) rs387906473
NM_000032.5(ALAS2):c.1702_1705AGTG[1] (p.Glu569fs) rs387906472
NM_000140.3(FECH):c.1078_1137del rs879255507
NM_000140.3(FECH):c.195_314del rs786205246
NM_000140.3(FECH):c.68_194del rs786205247
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
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.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.314+2T>G rs149067146
NM_000140.4(FECH):c.315-48T>C rs2272783
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.68-23C>T rs2269219
NM_000140.4(FECH):c.801G>A (p.Met267Ile) rs118204037
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys) rs118204105
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser) rs118204106
NM_000190.4(HMBS):c.174del (p.Thr59fs) rs1565754285
NM_000190.4(HMBS):c.181dup (p.Asp61fs) rs1565754296
NM_000190.4(HMBS):c.211-1G>A rs1565754452
NM_000190.4(HMBS):c.242T>C (p.Leu81Pro) rs118204119
NM_000190.4(HMBS):c.266+1G>C rs1565754565
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) rs118204107
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) rs118204094
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) rs118204120
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln) rs118204098
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter) rs118204097
NM_000190.4(HMBS):c.499-1G>A rs1565756481
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) rs118204101
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu) rs118204095
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) rs118204096
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) rs118204108
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) rs118204100
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) rs118204116
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.728_729CT[1] (p.Leu244fs) rs1565757839
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg) rs118204099
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs) rs1565757857
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) rs118204111
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys) rs118204112
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113
NM_000190.4(HMBS):c.755C>T (p.Ala252Val) rs118204114
NM_000190.4(HMBS):c.766C>A (p.His256Asn) rs118204115
NM_000190.4(HMBS):c.771+1G>C rs1565758008
NM_000190.4(HMBS):c.77G>A (p.Arg26His) rs118204103
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) rs118204117
NM_000190.4(HMBS):c.900del (p.His300fs) rs1565758825
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) rs118204104
NM_000374.5(UROD):c.185C>T (p.Pro62Leu) rs121918060
NM_000374.5(UROD):c.346C>T (p.Gln116Ter) rs397514765
NM_000374.5(UROD):c.494T>G (p.Met165Arg) rs121918063
NM_000374.5(UROD):c.499G>A (p.Glu167Lys) rs121918058
NM_000374.5(UROD):c.583C>T (p.Leu195Phe) rs121918064
NM_000374.5(UROD):c.636+1G>C rs145195562
NM_000374.5(UROD):c.6_15del (p.Glu2fs) rs397514764
NM_000374.5(UROD):c.842G>A (p.Gly281Glu) rs121918057
NM_000374.5(UROD):c.842G>T (p.Gly281Val) rs121918057
NM_000374.5(UROD):c.874C>G (p.Arg292Gly) rs121918059
NM_000374.5(UROD):c.912C>A (p.Asn304Lys) rs121918065
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061
NM_000374.5(UROD):c.942G>A (p.Glu314=) rs121918062
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) rs121918325
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025
NM_001122764.3(PPOX):c.59A>C (p.His20Pro) rs121918326
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) rs121918323
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542
PPOX, 1-BP INS, 1022G
PPOX, 2-BP DEL, 537AT
PPOX, 5-BP DEL, NT1239

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