ClinVar Miner

List of variants studied for protoporphyria, erythropoietic, 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 175
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.*2825A>G rs8090261 0.99856
NM_000140.5(FECH):c.*2526T>C rs2723680 0.99842
NM_000140.5(FECH):c.314+23A>G rs577152 0.98594
NM_000140.5(FECH):c.*4563G>T rs663774 0.77234
NM_000140.5(FECH):c.921A>G (p.Pro307=) rs536560 0.74784
NM_000140.5(FECH):c.*1287T>A rs113654252 0.36364
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_000140.5(FECH):c.*4886T>G rs7238897 0.26416
NM_000140.5(FECH):c.*248C>T rs8339 0.21849
NM_000140.5(FECH):c.*2446G>T rs4940895 0.13148
NM_000140.5(FECH):c.*3377G>T rs480942 0.10956
NM_000140.5(FECH):c.287G>A (p.Arg96Gln) rs1041951 0.10933
NM_000140.5(FECH):c.*2371T>G rs1062010 0.10588
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06828
NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln) rs60322991 0.04457
NM_000140.5(FECH):c.*2739T>C rs111695226 0.03343
NM_000140.5(FECH):c.*4463A>G rs7228449 0.02936
NM_000140.5(FECH):c.*3601A>G rs73453635 0.02742
NM_000140.5(FECH):c.*117C>T rs8099115 0.02200
NM_000140.5(FECH):c.*4971A>G rs114530851 0.02076
NM_000140.5(FECH):c.*1622T>C rs78359676 0.01843
NM_000140.5(FECH):c.*696C>T rs76175837 0.01836
NM_000140.5(FECH):c.*422T>A rs3760612 0.01833
NM_000140.5(FECH):c.*2451T>G rs55769459 0.01738
NM_000140.5(FECH):c.*481A>G rs3760613 0.01701
NM_000140.5(FECH):c.*3170T>C rs75976774 0.01550
NM_000140.5(FECH):c.*5588G>A rs78224804 0.01484
NM_000140.5(FECH):c.*571G>A rs114617188 0.01361
NM_000140.5(FECH):c.*4106A>G rs72940306 0.00977
NM_000140.5(FECH):c.*892T>C rs13271 0.00964
NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) rs57467915 0.00936
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_000140.5(FECH):c.*5801T>G rs139119026 0.00767
NM_000140.5(FECH):c.*5394G>T rs145935279 0.00656
NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr) rs147445258 0.00642
NM_000140.5(FECH):c.*4883_*4884insC rs201434287 0.00633
NM_000140.5(FECH):c.*4458C>T rs113000324 0.00623
NM_000140.5(FECH):c.*3841C>T rs143797631 0.00547
NM_000140.5(FECH):c.*2441G>T rs886053982 0.00410
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) rs145526996 0.00392
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_000140.5(FECH):c.*5140G>A rs55987829 0.00291
NM_000140.5(FECH):c.*1479T>C rs112062178 0.00287
NM_000140.5(FECH):c.*3567G>A rs556538397 0.00255
NM_000140.5(FECH):c.*4597T>C rs147684323 0.00237
NM_000140.5(FECH):c.*2788G>A rs145954113 0.00234
NM_000140.5(FECH):c.*936C>T rs144709743 0.00200
NM_000140.5(FECH):c.*347G>A rs113392534 0.00192
NM_000140.5(FECH):c.*5143C>T rs139987131 0.00176
NM_000140.5(FECH):c.*4056C>T rs181920623 0.00166
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) rs149202834 0.00159
NM_000140.5(FECH):c.*3339G>A rs113928110 0.00152
NM_005689.4(ABCB6):c.739C>T (p.Arg247Cys) rs190528998 0.00115
NM_000140.5(FECH):c.*4367C>T rs146417207 0.00112
NM_000140.5(FECH):c.801G>A (p.Met267Ile) rs118204037 0.00108
NM_000140.5(FECH):c.*3804G>A rs190604320 0.00107
NM_000140.5(FECH):c.*4829C>T rs565989254 0.00092
NM_000140.5(FECH):c.*1508G>A rs540286571 0.00081
NM_000140.5(FECH):c.*1915G>T rs148459563 0.00067
NM_000140.5(FECH):c.598+12T>A rs370521491 0.00066
NM_000140.5(FECH):c.*3129C>T rs137955859 0.00060
NM_000140.5(FECH):c.*5090G>A rs776370345 0.00060
NM_000140.5(FECH):c.*4445G>A rs578202706 0.00053
NM_000140.5(FECH):c.*1567A>G rs574153215 0.00044
NM_000140.5(FECH):c.362A>G (p.Glu121Gly) rs141813907 0.00043
NM_000140.5(FECH):c.*1032G>A rs140863287 0.00034
NM_000140.5(FECH):c.*2443T>G rs201834035 0.00034
NM_000140.5(FECH):c.*4720T>C rs760022638 0.00025
NM_000140.5(FECH):c.*394C>G rs781751487 0.00024
NM_000140.5(FECH):c.913-13A>G rs200538834 0.00022
NM_000140.5(FECH):c.*4077C>T rs548648988 0.00021
NM_000140.5(FECH):c.*1054T>C rs192343321 0.00020
NM_000140.5(FECH):c.*2450_*2451insG rs886053980 0.00019
NM_000140.5(FECH):c.*2644A>G rs558443758 0.00017
NM_000140.5(FECH):c.132C>T (p.Ala44=) rs147500247 0.00017
NM_000140.5(FECH):c.139A>G (p.Thr47Ala) rs144831860 0.00014
NM_000140.5(FECH):c.*3691C>T rs148141502 0.00013
NM_000140.5(FECH):c.819C>T (p.Gly273=) rs138840143 0.00012
NM_000140.5(FECH):c.*2079C>T rs886053983 0.00011
NM_000140.5(FECH):c.385G>A (p.Gly129Arg) rs138714094 0.00011
NM_000140.5(FECH):c.*2782G>T rs886053975 0.00010
NM_000140.5(FECH):c.*1950A>G rs886053985 0.00009
NM_000140.5(FECH):c.*1966G>T rs779669357 0.00008
NM_000140.5(FECH):c.*3719C>T rs886053973 0.00007
NM_000140.5(FECH):c.*4363G>A rs375097125 0.00007
NM_000140.5(FECH):c.*5349C>T rs189146107 0.00007
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu) rs150146721 0.00007
NM_000140.5(FECH):c.820G>A (p.Asp274Asn) rs146269992 0.00007
NM_000140.5(FECH):c.959A>G (p.Lys320Arg) rs371224528 0.00007
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.*3716C>T rs567960865 0.00005
NM_000140.5(FECH):c.*4449A>G rs886053968 0.00005
NM_000140.5(FECH):c.*592C>T rs577112809 0.00005
NM_000140.5(FECH):c.*3656C>T rs886053974 0.00004
NM_000140.5(FECH):c.*4528C>T rs564734119 0.00004
NM_000140.5(FECH):c.*60T>C rs886053996 0.00004
NM_000140.5(FECH):c.*2513G>A rs886053978 0.00003
NM_000140.5(FECH):c.*2599C>T rs886053977 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.*5247T>C rs375220859 0.00003
NM_000140.5(FECH):c.202A>G (p.Lys68Glu) rs756377185 0.00003
NM_000140.5(FECH):c.314+2T>G rs149067146 0.00003
NM_000140.5(FECH):c.343C>T (p.Arg115Ter) rs1198671446 0.00003
NM_000140.5(FECH):c.40del (p.Ala14fs) rs1171981319 0.00003
NM_000140.5(FECH):c.854A>G (p.Gln285Arg) rs370708663 0.00002
NM_000140.5(FECH):c.913G>T (p.Val305Phe) rs765518889 0.00002
NM_000140.3(FECH):c.1078_1137del rs879255507 0.00001
NM_000140.5(FECH):c.*2840C>T rs568628377 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.1137+3A>G rs202147607 0.00001
NM_000140.5(FECH):c.1217G>A (p.Cys406Tyr) rs1324421474 0.00001
NM_000140.5(FECH):c.514G>A (p.Glu172Lys) rs200650502 0.00001
NM_000140.5(FECH):c.599-3C>T rs765069812 0.00001
NM_000140.5(FECH):c.835G>A (p.Glu279Lys) rs2050849085 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_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
NM_000140.5(FECH):c.*1039G>A rs185134664
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_*1288insTA rs59569925
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.*2461dup rs529946604
NM_000140.5(FECH):c.*3753_*3754insT rs886053972
NM_000140.5(FECH):c.*3976C>T rs886053970
NM_000140.5(FECH):c.*4368G>A rs543603003
NM_000140.5(FECH):c.*4598T>G rs886053967
NM_000140.5(FECH):c.*4793TTA[1] rs137860528
NM_000140.5(FECH):c.*4891dup rs146687823
NM_000140.5(FECH):c.*5139C>T rs151197779
NM_000140.5(FECH):c.*5170T>C rs886053966
NM_000140.5(FECH):c.*5628C>A rs13732
NM_000140.5(FECH):c.*825T>C rs886053993
NM_000140.5(FECH):c.1077+1G>A rs786205245
NM_000140.5(FECH):c.1078-5T>G rs1398391651
NM_000140.5(FECH):c.1085T>G (p.Val362Gly) rs118204040
NM_000140.5(FECH):c.1136del (p.Lys379fs) rs764466739
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.181C>T (p.Gln61Ter) rs2122357230
NM_000140.5(FECH):c.194+11A>G rs786205247
NM_000140.5(FECH):c.205dup (p.Thr69fs)
NM_000140.5(FECH):c.229G>A (p.Gly77Arg) rs2051141708
NM_000140.5(FECH):c.286C>T (p.Arg96Ter) rs984041251
NM_000140.5(FECH):c.314+6A>C rs786205246
NM_000140.5(FECH):c.365del (p.Gln122fs) rs1599003455
NM_000140.5(FECH):c.400del (p.Ile134fs)
NM_000140.5(FECH):c.427A>G (p.Met143Val)
NM_000140.5(FECH):c.464-4A>G rs1265864647
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.590C>T (p.Ser197Phe) rs1327813679
NM_000140.5(FECH):c.598+1G>T rs1598996309
NM_000140.5(FECH):c.672T>G (p.Ile224Met) rs2511528538
NM_000140.5(FECH):c.757_761del (p.Ser254fs)
NM_000140.5(FECH):c.798C>G (p.Pro266=) rs536765
NM_000140.5(FECH):c.863T>C (p.Met288Thr)
NM_000140.5(FECH):c.901_902del (p.Trp301fs) rs1430926156
NM_000140.5(FECH):c.913-7C>T rs369538477

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.