ClinVar Miner

List of variants studied for autosomal erythropoietic protoporphyria

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_006660.5(CLPX):c.1146+13G>A rs2946670 0.99995
NM_000140.5(FECH):c.*2526T>C rs2723680 0.99842
NM_000140.5(FECH):c.*2825A>G rs8090261 0.99840
NM_000140.5(FECH):c.314+23A>G rs577152 0.98504
NM_000140.5(FECH):c.*4563G>T rs663774 0.76588
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 0.27283
NM_000140.5(FECH):c.*248C>T rs8339 0.21849
NM_000140.5(FECH):c.*2446G>T rs4940895 0.12823
NM_000140.5(FECH):c.*3377G>T rs480942 0.11174
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 0.06200
NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln) rs60322991 0.04800
NM_000140.5(FECH):c.*2739T>C rs111695226 0.03343
NM_000140.5(FECH):c.*4463A>G rs7228449 0.03133
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.*2451T>G rs55769459 0.01852
NM_000140.5(FECH):c.*1622T>C rs78359676 0.01713
NM_000140.5(FECH):c.*696C>T rs76175837 0.01710
NM_000140.5(FECH):c.*422T>A rs3760612 0.01705
NM_000140.5(FECH):c.*481A>G rs3760613 0.01701
NM_000140.5(FECH):c.*3170T>C rs75976774 0.01670
NM_000140.5(FECH):c.*5588G>A rs78224804 0.01585
NM_000140.5(FECH):c.*571G>A rs114617188 0.01460
NM_000140.5(FECH):c.*892T>C rs13271 0.01039
NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) rs57467915 0.00979
NM_000140.5(FECH):c.*5801T>G rs139119026 0.00849
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_000140.5(FECH):c.*4106A>G rs72940306 0.00744
NM_000140.5(FECH):c.*5394G>T rs145935279 0.00711
NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr) rs147445258 0.00672
NM_000140.5(FECH):c.*4458C>T rs113000324 0.00623
NM_000140.5(FECH):c.*3841C>T rs143797631 0.00586
NM_000140.5(FECH):c.*4883_*4884insC rs201434287 0.00582
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) rs145526996 0.00431
NM_000140.5(FECH):c.*2441G>T rs886053982 0.00424
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_000140.5(FECH):c.*5140G>A rs55987829 0.00301
NM_000140.5(FECH):c.*1479T>C rs112062178 0.00287
NM_000140.5(FECH):c.*3567G>A rs556538397 0.00273
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.*4056C>T rs181920623 0.00166
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) rs149202834 0.00166
NM_000140.5(FECH):c.*3339G>A rs113928110 0.00159
NM_000140.5(FECH):c.185C>G (p.Pro62Arg) rs150830931 0.00124
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.*5143C>T rs139987131 0.00101
NM_000140.5(FECH):c.*4829C>T rs565989254 0.00093
NM_000140.5(FECH):c.598+12T>A rs370521491 0.00071
NM_000140.5(FECH):c.*1915G>T rs148459563 0.00067
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.*1508G>A rs540286571 0.00048
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.*3129C>T rs137955859 0.00038
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.*4077C>T rs548648988 0.00024
NM_000140.5(FECH):c.913-13A>G rs200538834 0.00022
NM_000140.5(FECH):c.*1054T>C rs192343321 0.00020
NM_000140.5(FECH):c.*2644A>G rs558443758 0.00016
NM_000140.5(FECH):c.132C>T (p.Ala44=) rs147500247 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_000140.5(FECH):c.819C>T (p.Gly273=) rs138840143 0.00013
NM_000140.5(FECH):c.*2079C>T rs886053983 0.00011
NM_000140.5(FECH):c.*2782G>T rs886053975 0.00011
NM_000140.5(FECH):c.385G>A (p.Gly129Arg) rs138714094 0.00010
NM_000140.5(FECH):c.*1950A>G rs886053985 0.00009
NM_000140.5(FECH):c.*1966G>T rs779669357 0.00009
NM_000140.5(FECH):c.*3691C>T rs148141502 0.00008
NM_000140.5(FECH):c.*3719C>T rs886053973 0.00007
NM_000140.5(FECH):c.*5349C>T rs189146107 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.1001C>T (p.Pro334Leu) rs150146721 0.00006
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.*5247T>C rs375220859 0.00005
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_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_000140.5(FECH):c.314+2T>G rs149067146 0.00003
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.*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.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.854A>G (p.Gln285Arg) rs370708663 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.*2840C>T rs568628377
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.*592C>T rs577112809
NM_000140.5(FECH):c.*825T>C rs886053993
NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs)
NM_000140.5(FECH):c.1077+1G>A rs786205245
NM_000140.5(FECH):c.1078-5T>G
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.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.343C>T (p.Arg115Ter)
NM_000140.5(FECH):c.365del (p.Gln122fs) rs1599003455
NM_000140.5(FECH):c.400del (p.Ile134fs)
NM_000140.5(FECH):c.40del (p.Ala14fs)
NM_000140.5(FECH):c.464-4A>G rs1265864647
NM_000140.5(FECH):c.47del (p.Gly16fs) rs2051380165
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.672T>G (p.Ile224Met)
NM_000140.5(FECH):c.757_761del (p.Ser254fs)
NM_000140.5(FECH):c.798C>G (p.Pro266=) rs536765
NM_000140.5(FECH):c.835G>A (p.Glu279Lys)
NM_000140.5(FECH):c.901_902del (p.Trp301fs) rs1430926156
NM_000140.5(FECH):c.913-7C>T rs369538477
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542

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