ClinVar Miner

List of variants reported as uncertain significance for porphyria by Illumina Laboratory Services, Illumina

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.*1287T>A rs113654252 0.36364
NM_000140.5(FECH):c.*2446G>T rs4940895 0.12823
NM_000140.5(FECH):c.*2441G>T rs886053982 0.00424
NM_000375.3(UROS):c.63+8G>A rs17153575 0.00410
NM_001122764.3(PPOX):c.-246G>T rs114493458 0.00229
NM_000031.6(ALAD):c.*363G>A rs576008526 0.00175
NM_000374.4(UROD):c.-52C>A rs41269103 0.00136
NM_000140.5(FECH):c.185C>G (p.Pro62Arg) rs150830931 0.00124
NM_000031.6(ALAD):c.*400G>A rs557867804 0.00110
NM_001122764.3(PPOX):c.87+13C>T rs201155115 0.00103
NM_000375.3(UROS):c.475+14T>A rs17425877 0.00091
NM_000374.5(UROD):c.474+15G>C rs369108963 0.00076
NM_001122764.3(PPOX):c.617-6C>T rs200192089 0.00071
NM_001122764.3(PPOX):c.349C>T (p.Arg117Cys) rs190919484 0.00067
NM_000140.5(FECH):c.*5090G>A rs776370345 0.00060
NM_000031.6(ALAD):c.*1464A>G rs559359572 0.00053
NM_000097.7(CPOX):c.*939A>G rs539237301 0.00051
NM_000031.6(ALAD):c.715-14C>A rs201135240 0.00041
NM_000375.3(UROS):c.*178G>A rs569628154 0.00041
NM_000031.6(ALAD):c.*422G>T rs41276805 0.00038
NM_001122764.3(PPOX):c.471+3G>A rs200920978 0.00037
NM_000190.4(HMBS):c.*101G>A rs565181447 0.00033
NM_001122764.3(PPOX):c.-251G>C rs368129128 0.00033
NM_000374.5(UROD):c.442C>T (p.Arg148Cys) rs147374926 0.00032
NM_000375.3(UROS):c.*99A>G rs886046814 0.00032
NM_000375.3(UROS):c.106T>G (p.Leu36Val) rs200858139 0.00028
NM_000374.5(UROD):c.774+12G>A rs186269864 0.00027
NM_000140.5(FECH):c.*4720T>C rs760022638 0.00025
NM_000031.6(ALAD):c.-75-11A>G rs187909805 0.00024
NM_000140.5(FECH):c.*394C>G rs781751487 0.00024
NM_000140.5(FECH):c.*4077C>T rs548648988 0.00024
NM_000031.5(ALAD):c.-156C>A rs562413861 0.00022
NM_000374.4(UROD):c.*80A>G rs144315045 0.00021
NM_001122764.3(PPOX):c.-1C>T rs148045152 0.00021
NM_000374.5(UROD):c.390G>T (p.Glu130Asp) rs138585833 0.00020
NM_000031.6(ALAD):c.*1832T>C rs903858525 0.00019
NM_000031.6(ALAD):c.277G>A (p.Ala93Thr) rs138313868 0.00019
NM_000097.7(CPOX):c.*340A>G rs886058945 0.00017
NM_000031.6(ALAD):c.724G>A (p.Val242Ile) rs200180791 0.00016
NM_000374.4(UROD):c.-51T>C rs370067756 0.00016
NM_000031.6(ALAD):c.678G>T (p.Leu226=) rs190497588 0.00015
NM_000097.7(CPOX):c.*1046A>G rs763864217 0.00015
NM_000140.5(FECH):c.*2450_*2451insG rs886053980 0.00014
NM_000140.5(FECH):c.139A>G (p.Thr47Ala) rs144831860 0.00014
NM_000097.7(CPOX):c.*498_*499insCA rs886058944 0.00013
NM_000097.7(CPOX):c.*506C>T rs886058943 0.00013
NM_000140.5(FECH):c.819C>T (p.Gly273=) rs138840143 0.00013
NM_000031.6(ALAD):c.264C>T (p.Asp88=) rs377534006 0.00012
NM_000031.6(ALAD):c.940A>G (p.Ile314Val) rs557510313 0.00011
NM_000097.7(CPOX):c.*712T>C rs893225316 0.00011
NM_000140.5(FECH):c.*2079C>T rs886053983 0.00011
NM_000140.5(FECH):c.*2782G>T rs886053975 0.00011
NM_000031.5(ALAD):c.-197G>T rs376588496 0.00010
NM_000031.6(ALAD):c.770A>G (p.Tyr257Cys) rs769181980 0.00010
NM_000097.7(CPOX):c.*1174G>A rs886058940 0.00010
NM_000374.5(UROD):c.158A>G (p.Gln53Arg) rs199597323 0.00010
NM_000374.5(UROD):c.745C>T (p.Arg249Trp) rs137978913 0.00010
NM_000140.5(FECH):c.*1950A>G rs886053985 0.00009
NM_000140.5(FECH):c.*1966G>T rs779669357 0.00009
NM_001122764.3(PPOX):c.360C>T (p.Pro120=) rs148730591 0.00009
NM_000190.4(HMBS):c.798C>T (p.Ala266=) rs375078473 0.00008
NM_000140.5(FECH):c.*3719C>T rs886053973 0.00007
NM_000140.5(FECH):c.*5349C>T rs189146107 0.00007
NM_000031.5(ALAD):c.-160_-159insA rs886063365 0.00006
NM_000031.6(ALAD):c.16G>A (p.Val6Ile) rs766501537 0.00006
NM_000031.6(ALAD):c.439C>T (p.Arg147Cys) rs777664535 0.00006
NM_000031.6(ALAD):c.501G>A (p.Pro167=) rs376714503 0.00006
NM_000097.7(CPOX):c.-86C>T rs983628005 0.00006
NM_000190.4(HMBS):c.26C>A (p.Ala9Glu) rs148084355 0.00006
NM_000374.5(UROD):c.*45C>T rs371078664 0.00006
NM_000374.5(UROD):c.27G>C (p.Gln9His) rs150027651 0.00006
NM_000375.3(UROS):c.-232G>A rs886046815 0.00006
NM_001122764.3(PPOX):c.1248+4A>G rs775748399 0.00006
NM_001122764.3(PPOX):c.936G>A (p.Val312=) rs751511778 0.00006
NM_000031.6(ALAD):c.870G>A (p.Gln290=) rs759917153 0.00005
NM_000140.5(FECH):c.*2060C>T rs886053984 0.00005
NM_000140.5(FECH):c.*2600G>A rs886053976 0.00005
NM_000140.5(FECH):c.*4449A>G rs886053968 0.00005
NM_000140.5(FECH):c.*5247T>C rs375220859 0.00005
NM_000031.6(ALAD):c.*643G>T rs182766085 0.00004
NM_000031.6(ALAD):c.-70G>T rs774433320 0.00004
NM_000031.6(ALAD):c.241G>A (p.Val81Ile) rs200963049 0.00004
NM_000031.6(ALAD):c.801+14C>T rs369933664 0.00004
NM_000140.5(FECH):c.*2513G>A rs886053978 0.00004
NM_000140.5(FECH):c.*2599C>T rs886053977 0.00004
NM_000140.5(FECH):c.*3656C>T rs886053974 0.00004
NM_000140.5(FECH):c.*4363G>A rs375097125 0.00004
NM_000140.5(FECH):c.*4528C>T rs564734119 0.00004
NM_000140.5(FECH):c.*60T>C rs886053996 0.00004
NM_000190.4(HMBS):c.885G>A (p.Met295Ile) rs749688624 0.00004
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser) rs746707121 0.00004
NM_000190.4(HMBS):c.974G>A (p.Arg325Gln) rs781674367 0.00004
NM_000374.5(UROD):c.578G>A (p.Arg193His) rs143823335 0.00004
NM_001122764.3(PPOX):c.-211C>A rs140693401 0.00004
NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu) rs772971420 0.00004
NM_000031.6(ALAD):c.-76+15G>T rs756965057 0.00003
NM_000097.7(CPOX):c.1173G>T (p.Arg391=) rs374136925 0.00003
NM_000140.5(FECH):c.*3788A>G rs886053971 0.00003
NM_000140.5(FECH):c.*4336A>G rs769571284 0.00003
NM_000140.5(FECH):c.202A>G (p.Lys68Glu) rs756377185 0.00003
NM_001122764.3(PPOX):c.-149G>T rs186428034 0.00003
NM_000031.6(ALAD):c.*127C>T rs561104906 0.00002
NM_000031.6(ALAD):c.*498C>T rs1025631016 0.00002
NM_000031.6(ALAD):c.715G>A (p.Asp239Asn) rs752186527 0.00002
NM_000031.6(ALAD):c.784C>T (p.Arg262Trp) rs777485356 0.00002
NM_000097.7(CPOX):c.*66G>A rs886058947 0.00002
NM_000097.7(CPOX):c.167C>T (p.Thr56Met) rs886058948 0.00002
NM_000190.4(HMBS):c.160A>C (p.Ile54Leu) rs368061837 0.00002
NM_000374.4(UROD):c.-67G>A rs767012968 0.00002
NM_000375.3(UROS):c.*24A>G rs760003189 0.00002
NM_000375.3(UROS):c.-134C>A rs985442867 0.00002
NM_000375.3(UROS):c.691G>A (p.Ala231Thr) rs780837512 0.00002
NM_001122764.3(PPOX):c.649C>T (p.Arg217Cys) rs751599052 0.00002
NM_001122764.3(PPOX):c.844G>A (p.Val282Ile) rs145286580 0.00002
NM_000031.6(ALAD):c.*1511T>C rs745513769 0.00001
NM_000031.6(ALAD):c.*1631G>A rs886063359 0.00001
NM_000031.6(ALAD):c.*381G>A rs886063363 0.00001
NM_000031.6(ALAD):c.474C>G (p.Ala158=) rs1340298448 0.00001
NM_000031.6(ALAD):c.521G>A (p.Arg174His) rs750462706 0.00001
NM_000031.6(ALAD):c.897C>T (p.Ala299=) rs370242589 0.00001
NM_000097.7(CPOX):c.*194G>T rs886058946 0.00001
NM_000097.7(CPOX):c.*351A>G rs1354893013 0.00001
NM_000097.7(CPOX):c.*516A>C rs1402867317 0.00001
NM_000097.7(CPOX):c.*633A>C rs886058942 0.00001
NM_000097.7(CPOX):c.-43G>C rs763595872 0.00001
NM_000097.7(CPOX):c.-87C>T rs908936882 0.00001
NM_000097.7(CPOX):c.348G>C (p.Pro116=) rs140566686 0.00001
NM_000140.5(FECH):c.*4237A>G rs886053969 0.00001
NM_000140.5(FECH):c.*4337G>A rs747976113 0.00001
NM_000140.5(FECH):c.*443A>C rs886053994 0.00001
NM_000140.5(FECH):c.*55C>T rs886053997 0.00001
NM_000140.5(FECH):c.1078-6A>G rs2050796264 0.00001
NM_000140.5(FECH):c.912+14A>G rs886053999 0.00001
NM_000140.5(FECH):c.935G>T (p.Gly312Val) rs886053998 0.00001
NM_000190.4(HMBS):c.*194A>G rs886047756 0.00001
NM_000190.4(HMBS):c.345-9C>T rs772934410 0.00001
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln) rs1165046276 0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113 0.00001
NM_000190.4(HMBS):c.768C>A (p.His256Gln) rs758794172 0.00001
NM_000190.4(HMBS):c.889G>T (p.Ala297Ser) rs772616498 0.00001
NM_000374.5(UROD):c.561T>C (p.Ala187=) rs780519904 0.00001
NM_000374.5(UROD):c.679C>G (p.Gln227Glu) rs546150911 0.00001
NM_000374.5(UROD):c.738C>T (p.Ala246=) rs757178659 0.00001
NM_000375.3(UROS):c.*56T>C rs1436191296 0.00001
NM_000375.3(UROS):c.*92T>G rs887568142 0.00001
NM_000375.3(UROS):c.169G>A (p.Gly57Arg) rs200322717 0.00001
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016 0.00001
NM_000375.3(UROS):c.327A>C (p.Lys109Asn) rs369561042 0.00001
NM_000375.3(UROS):c.53C>T (p.Pro18Leu) rs766540245 0.00001
NM_001122764.3(PPOX):c.-180T>C rs886045450 0.00001
NM_001122764.3(PPOX):c.-2G>T rs779526273 0.00001
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter) rs754313121 0.00001
NM_001122764.3(PPOX):c.597G>T (p.Leu199=) rs769659160 0.00001
NM_001122764.3(PPOX):c.646A>G (p.Ile216Val) rs758572020 0.00001
NM_000031.5(ALAD):c.-157_-156insCG rs879417667
NM_000031.5(ALAD):c.-162_-159dup rs143518565
NM_000031.6(ALAD):c.*1007G>A rs8177823
NM_000031.6(ALAD):c.*106C>G rs8177820
NM_000031.6(ALAD):c.*1280G>A rs190137021
NM_000031.6(ALAD):c.*1280G>C rs190137021
NM_000031.6(ALAD):c.*12C>T rs1827462434
NM_000031.6(ALAD):c.*1322G>A rs11789221
NM_000031.6(ALAD):c.*1470G>A rs886063360
NM_000031.6(ALAD):c.*1671A>T rs1827403039
NM_000031.6(ALAD):c.*1675C>T rs756771103
NM_000031.6(ALAD):c.*1741G>A rs886063358
NM_000031.6(ALAD):c.*1787A>C rs1588080129
NM_000031.6(ALAD):c.*1804T>C rs1327333635
NM_000031.6(ALAD):c.*1864A>C rs886063357
NM_000031.6(ALAD):c.*1915del rs886063356
NM_000031.6(ALAD):c.*234G>A rs1023159630
NM_000031.6(ALAD):c.*438G>C rs886063362
NM_000031.6(ALAD):c.*459_*463del rs886063361
NM_000031.6(ALAD):c.*676dup rs532401659
NM_000031.6(ALAD):c.*760T>C rs1827430851
NM_000031.6(ALAD):c.*920C>T rs1827424865
NM_000031.6(ALAD):c.1A>G (p.Met1Val) rs752500552
NM_000031.6(ALAD):c.910A>G (p.Met304Val) rs1588081960
NM_000031.6(ALAD):c.931+15G>A rs886063364
NM_000097.7(CPOX):c.*1076G>A rs775384142
NM_000097.7(CPOX):c.*1153G>C rs886058941
NM_000097.7(CPOX):c.*183A>G rs1707237180
NM_000097.7(CPOX):c.*745A>G rs1707219701
NM_000097.7(CPOX):c.-10G>A rs867711777
NM_000097.7(CPOX):c.-7C>G rs1010766291
NM_000097.7(CPOX):c.1230A>G (p.Pro410=) rs1707257247
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.458A>T (p.Glu153Val) rs1707510560
NM_000097.7(CPOX):c.474G>C (p.Glu158Asp) rs1707510266
NM_000097.7(CPOX):c.530C>T (p.Ser177Phe) rs1707508760
NM_000097.7(CPOX):c.811+14G>A rs1707460318
NM_000097.7(CPOX):c.86A>C (p.Gln29Pro) rs886058952
NM_000140.5(FECH):c.*1071C>G rs886053992
NM_000140.5(FECH):c.*1170T>A rs886053991
NM_000140.5(FECH):c.*1170_*1176delinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA rs886053988
NM_000140.5(FECH):c.*1173A>T rs868017208
NM_000140.5(FECH):c.*1175G>A rs886053990
NM_000140.5(FECH):c.*1176G>A rs886053989
NM_000140.5(FECH):c.*1287_*1288insTTTA rs59569925
NM_000140.5(FECH):c.*1348T>G rs886053987
NM_000140.5(FECH):c.*136G>C rs886053995
NM_000140.5(FECH):c.*1453T>C rs886053986
NM_000140.5(FECH):c.*2436GTTTT[2] rs886053981
NM_000140.5(FECH):c.*2451_*2452insG rs1555678907
NM_000140.5(FECH):c.*2459_*2461dup rs529946604
NM_000140.5(FECH):c.*3753_*3754insT rs886053972
NM_000140.5(FECH):c.*3976C>T rs886053970
NM_000140.5(FECH):c.*4598T>G rs886053967
NM_000140.5(FECH):c.*5170T>C rs886053966
NM_000140.5(FECH):c.*825T>C rs886053993
NM_000140.5(FECH):c.464-4A>G rs1265864647
NM_000190.4(HMBS):c.*153G>A rs550995668
NM_000190.4(HMBS):c.*94T>C rs886047755
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=) rs1350355238
NM_000190.4(HMBS):c.723C>G (p.Pro241=) rs202067277
NM_000374.4(UROD):c.-57dup rs777548921
NM_000374.5(UROD):c.*70G>A rs41269105
NM_000374.5(UROD):c.-1C>T rs886046364
NM_000374.5(UROD):c.21-12C>T rs775210041
NM_000374.5(UROD):c.240T>G (p.Ala80=) rs1644820833
NM_000374.5(UROD):c.383C>A (p.Ala128Asp) rs141792226
NM_000374.5(UROD):c.463G>A (p.Ala155Thr) rs1457521997
NM_000374.5(UROD):c.693G>A (p.Lys231=) rs143180539
NM_000375.3(UROS):c.-195C>A rs1227442865
NM_000375.3(UROS):c.-224C>T rs1854170338
NM_000375.3(UROS):c.251A>C (p.Glu84Ala) rs763606042
NM_000375.3(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_001122764.3(PPOX):c.-174A>G rs886045451
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.1318C>T (p.His440Tyr) rs1661220672
NM_001122764.3(PPOX):c.338+9A>G rs886045453
NM_001122764.3(PPOX):c.522C>T (p.Asn174=) rs886045454
NM_001122764.3(PPOX):c.559C>T (p.Leu187Phe) rs1659928956
NM_001122764.3(PPOX):c.69G>T (p.Arg23=) rs886045452

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