ClinVar Miner

List of variants reported as pathogenic for hepatic porphyria

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_000140.5(FECH):c.801G>A (p.Met267Ile) rs118204037 0.00108
NM_000140.5(FECH):c.820G>A (p.Asp274Asn) rs146269992 0.00007
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980 0.00005
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr) rs28936677 0.00005
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) rs118204101 0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys) rs1374394802 0.00003
NM_000140.5(FECH):c.314+2T>G rs149067146 0.00003
NM_000374.5(UROD):c.636+1G>C rs145195562 0.00003
NM_000374.5(UROD):c.842G>T (p.Gly281Val) rs121918057 0.00003
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) rs121912982 0.00001
NM_000031.6(ALAD):c.820G>A (p.Ala274Thr) rs121912983 0.00001
NM_000031.6(ALAD):c.823G>A (p.Val275Met) rs121912981 0.00001
NM_000140.3(FECH):c.1078_1137del rs879255507 0.00001
NM_000140.5(FECH):c.1217G>A (p.Cys406Tyr) rs1324421474 0.00001
NM_000140.5(FECH):c.854A>G (p.Gln285Arg) rs370708663 0.00001
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser) rs118204106 0.00001
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) rs118204094 0.00001
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) rs575222284 0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113 0.00001
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) rs118204104 0.00001
NM_000374.5(UROD):c.346C>T (p.Gln116Ter) rs397514765 0.00001
NM_000374.5(UROD):c.494T>G (p.Met165Arg) rs121918063 0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter) rs771824413 0.00001
NM_000374.5(UROD):c.912C>A (p.Asn304Lys) rs121918065 0.00001
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061 0.00001
NM_001098.3(ACO2):c.76C>T (p.Leu26=) rs1057518832 0.00001
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg) rs374936130 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 0.00001
NG_008093.1:g.9237_9238insAluYa59225_9237dup
NM_000031.6(ALAD):c.165-11C>A rs749066913
NM_000031.6(ALAD):c.165-11C>T rs749066913
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.1706_1709del (p.Glu569fs) rs387906472
NM_000097.7(CPOX):c.478C>T (p.Gln160Ter) rs1576306536
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs)
NM_000140.5(FECH):c.1077+1G>A rs786205245
NM_000140.5(FECH):c.1085T>G (p.Val362Gly) rs118204040
NM_000140.5(FECH):c.1136del (p.Lys379fs) rs764466739
NM_000140.5(FECH):c.1137+3A>G rs202147607
NM_000140.5(FECH):c.1250T>C (p.Phe417Ser) rs118204039
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.5(FECH):c.194+11A>G rs786205247
NM_000140.5(FECH):c.286C>T (p.Arg96Ter) rs984041251
NM_000140.5(FECH):c.314+6A>C rs786205246
NM_000140.5(FECH):c.40del (p.Ala14fs)
NM_000140.5(FECH):c.553G>A (p.Ala185Thr) rs397514476
NM_000140.5(FECH):c.580_584del (p.Tyr194fs) rs786205248
NM_000140.5(FECH):c.598+1G>T rs1598996309
NM_000140.5(FECH):c.901_902del (p.Trp301fs) rs1430926156
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys) rs118204105
NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs) rs1555206402
NM_000190.4(HMBS):c.160+5G>C rs1592213590
NM_000190.4(HMBS):c.174del (p.Thr59fs) rs1565754285
NM_000190.4(HMBS):c.181dup (p.Asp61fs) rs1565754296
NM_000190.4(HMBS):c.210+1G>C rs2134859316
NM_000190.4(HMBS):c.211-1G>A rs1565754452
NM_000190.4(HMBS):c.211-1G>T rs1565754452
NM_000190.4(HMBS):c.219_220del (p.Ser75fs) rs1592214498
NM_000190.4(HMBS):c.266+1G>C rs1565754565
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) rs118204107
NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer) rs1057518886
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.500G>T (p.Arg167Leu) rs118204095
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) rs118204096
NM_000190.4(HMBS):c.518G>C (p.Arg173Pro)
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) rs118204108
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) rs118204100
NM_000190.4(HMBS):c.612G>T (p.Gln204His) rs1592217847
NM_000190.4(HMBS):c.613-1G>A rs771206317
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.669_698del (p.Glu223_Leu232del) rs1555206128
NM_000190.4(HMBS):c.730_731del (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.755C>T (p.Ala252Val) rs118204114
NM_000190.4(HMBS):c.766C>A (p.His256Asn) rs118204115
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) rs998842815
NM_000190.4(HMBS):c.771+1G>C rs1565758008
NM_000190.4(HMBS):c.771G>A (p.Leu257=) rs1555206170
NM_000190.4(HMBS):c.77G>A (p.Arg26His) rs118204103
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000190.4(HMBS):c.847_848del (p.Trp283fs) rs1592220835
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) rs118204117
NM_000190.4(HMBS):c.900del (p.His300fs) rs1565758825
NM_000190.4(HMBS):c.912+1G>C
NM_000190.4(HMBS):c.913-1G>A rs1946325053
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter) rs2134885779
NM_000374.5(UROD):c.185C>T (p.Pro62Leu) rs121918060
NM_000374.5(UROD):c.21-1G>C rs1644814606
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.6_15del (p.Glu2fs) rs397514764
NM_000374.5(UROD):c.842G>A (p.Gly281Glu) rs121918057
NM_000374.5(UROD):c.874C>G (p.Arg292Gly) rs121918059
NM_000374.5(UROD):c.904C>T (p.Gln302Ter) rs1569967143
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.1043A>G (p.Tyr348Cys)
NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala) rs28936676
NM_001122764.3(PPOX):c.1241_1245del (p.Leu414fs) rs2101902523
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) rs786204784
NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr)
NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro)
NM_001122764.3(PPOX):c.420del (p.Glu141fs)
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) rs121918325
NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu)
NM_001122764.3(PPOX):c.538_539del (p.Ile180fs) rs1571357779
NM_001122764.3(PPOX):c.59A>C (p.His20Pro) rs121918326
NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC (p.Ala219_Leu220insLysAlaSerAla) rs2101876868
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) rs121918323
NM_001122764.3(PPOX):c.745dup (p.Val249fs) rs1571369150
NM_001122764.3(PPOX):c.808G>T (p.Val270Leu)
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542
PPOX, IVS11DS, G-A, -1
Single allele

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