ClinVar Miner

List of variants in gene PEX12 studied for Zellweger spectrum disorders

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 473
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HGVS dbSNP gnomAD frequency
NM_000286.3(PEX12):c.-428T>C rs321600 0.84193
NM_000286.3(PEX12):c.*517A>G rs1046321 0.37640
NM_000286.3(PEX12):c.*836G>C rs10068 0.36472
NM_000286.3(PEX12):c.*166C>A rs1037590 0.20532
NM_000286.3(PEX12):c.-534C>T rs2278950 0.05335
NM_000286.3(PEX12):c.*636T>C rs111424374 0.01528
NM_000286.3(PEX12):c.*297T>C rs113891712 0.01526
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376 0.00945
NM_000286.3(PEX12):c.*781T>A rs185900922 0.00728
NM_000286.3(PEX12):c.867C>T (p.Asp289=) rs138720627 0.00647
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_000286.3(PEX12):c.*509T>G rs192370696 0.00415
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_000286.3(PEX12):c.452G>A (p.Arg151His) rs150186509 0.00113
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458 0.00101
NM_000286.3(PEX12):c.-427G>A rs531286605 0.00056
NM_000286.3(PEX12):c.-495C>T rs577172680 0.00034
NM_000286.3(PEX12):c.*380G>C rs762716335 0.00029
NM_000286.3(PEX12):c.*923G>A rs576761038 0.00022
NM_000286.3(PEX12):c.84T>C (p.Ser28=) rs200641558 0.00020
NM_000286.3(PEX12):c.-434A>C rs771210303 0.00018
NM_000286.3(PEX12):c.931C>T (p.Arg311Trp) rs373666248 0.00013
NM_000286.3(PEX12):c.127-19T>C rs1008239545 0.00012
NM_000286.3(PEX12):c.-138T>C rs543169335 0.00011
NM_000286.3(PEX12):c.1002G>A (p.Arg334=) rs200283718 0.00011
NM_000286.3(PEX12):c.793T>C (p.Tyr265His) rs142726996 0.00011
NM_000286.3(PEX12):c.-147C>T rs559905700 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804 0.00010
NM_000286.3(PEX12):c.306A>T (p.Arg102Ser) rs563487343 0.00009
NM_000286.3(PEX12):c.*38C>T rs756694664 0.00008
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp) rs193253559 0.00007
NM_000286.3(PEX12):c.*519A>G rs886052827 0.00006
NM_000286.3(PEX12):c.*569T>A rs541598688 0.00006
NM_000286.3(PEX12):c.-108A>G rs886052831 0.00006
NM_000286.3(PEX12):c.-358G>T rs565433352 0.00006
NM_000286.3(PEX12):c.745A>G (p.Thr249Ala) rs371597789 0.00006
NM_000286.3(PEX12):c.763G>A (p.Val255Ile) rs746089337 0.00006
NM_000286.3(PEX12):c.834C>T (p.Ala278=) rs755457602 0.00006
NM_000286.3(PEX12):c.156T>C (p.Tyr52=) rs373145272 0.00005
NM_000286.3(PEX12):c.46G>A (p.Asp16Asn) rs979319729 0.00005
NM_000286.3(PEX12):c.597G>A (p.Gln199=) rs756193716 0.00005
NM_000286.3(PEX12):c.*708G>A rs762099095 0.00004
NM_000286.3(PEX12):c.*922T>C rs886052823 0.00004
NM_000286.3(PEX12):c.127-12A>G rs770008536 0.00004
NM_000286.3(PEX12):c.189T>C (p.Phe63=) rs369640430 0.00004
NM_000286.3(PEX12):c.409C>T (p.Leu137=) rs17852912 0.00004
NM_000286.3(PEX12):c.420G>A (p.Glu140=) rs745813377 0.00004
NM_000286.3(PEX12):c.661A>G (p.Met221Val) rs764839291 0.00004
NM_000286.3(PEX12):c.*433T>C rs886052829 0.00003
NM_000286.3(PEX12):c.-405C>G rs886052834 0.00003
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000286.3(PEX12):c.191C>T (p.Thr64Ile) rs766393993 0.00003
NM_000286.3(PEX12):c.20A>G (p.His7Arg) rs143621995 0.00003
NM_000286.3(PEX12):c.236G>C (p.Ser79Thr) rs771507228 0.00003
NM_000286.3(PEX12):c.349A>G (p.Ile117Val) rs767207001 0.00003
NM_000286.3(PEX12):c.447T>C (p.Ser149=) rs375119247 0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103 0.00003
NM_000286.3(PEX12):c.543C>T (p.Tyr181=) rs192653658 0.00003
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter) rs61752105 0.00003
NM_000286.3(PEX12):c.681-15C>G rs371906447 0.00003
NM_000286.3(PEX12):c.907G>A (p.Val303Met) rs777654572 0.00003
NM_000286.3(PEX12):c.*39G>A rs751033919 0.00002
NM_000286.3(PEX12):c.101G>A (p.Arg34Lys) rs770777877 0.00002
NM_000286.3(PEX12):c.166T>C (p.Trp56Arg) rs758005394 0.00002
NM_000286.3(PEX12):c.245T>G (p.Phe82Cys) rs140611267 0.00002
NM_000286.3(PEX12):c.294C>A (p.His98Gln) rs767354075 0.00002
NM_000286.3(PEX12):c.335A>G (p.Gln112Arg) rs376279395 0.00002
NM_000286.3(PEX12):c.352A>G (p.Met118Val) rs773708442 0.00002
NM_000286.3(PEX12):c.570A>G (p.Ser190=) rs758132842 0.00002
NM_000286.3(PEX12):c.655A>G (p.Ser219Gly) rs773891359 0.00002
NM_000286.3(PEX12):c.724G>A (p.Gly242Ser) rs765982515 0.00002
NM_000286.3(PEX12):c.758T>C (p.Val253Ala) rs773962549 0.00002
NM_000286.3(PEX12):c.903G>C (p.Lys301Asn) rs145574816 0.00002
NM_000286.3(PEX12):c.905C>T (p.Thr302Ile) rs373860467 0.00002
NM_000286.3(PEX12):c.915A>T (p.Pro305=) rs748595918 0.00002
NM_000286.3(PEX12):c.932G>A (p.Arg311Gln) rs780595864 0.00002
NM_000286.3(PEX12):c.*109A>G rs996017117 0.00001
NM_000286.3(PEX12):c.*335T>C rs886052830 0.00001
NM_000286.3(PEX12):c.*411A>C rs2072778672 0.00001
NM_000286.3(PEX12):c.*532A>G rs886052826 0.00001
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894 0.00001
NM_000286.3(PEX12):c.1014T>G (p.Ala338=) rs1047155507 0.00001
NM_000286.3(PEX12):c.1021A>T (p.Ile341Phe) rs772028045 0.00001
NM_000286.3(PEX12):c.1042G>A (p.Val348Ile) rs2072781156 0.00001
NM_000286.3(PEX12):c.1062C>G (p.Leu354=) rs981025397 0.00001
NM_000286.3(PEX12):c.1068C>T (p.Ser356=) rs779530147 0.00001
NM_000286.3(PEX12):c.114G>A (p.Gln38=) rs949083612 0.00001
NM_000286.3(PEX12):c.126+6G>A rs1342667188 0.00001
NM_000286.3(PEX12):c.126+8A>G rs1268722683 0.00001
NM_000286.3(PEX12):c.174G>T (p.Trp58Cys) rs1167729519 0.00001
NM_000286.3(PEX12):c.182_184dup (p.Glu61_Ile62insLys) rs1412916235 0.00001
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) rs767447750 0.00001
NM_000286.3(PEX12):c.216A>G (p.Gln72=) rs763213930 0.00001
NM_000286.3(PEX12):c.237T>A (p.Ser79Arg) rs773576922 0.00001
NM_000286.3(PEX12):c.261C>T (p.Tyr87=) rs145784404 0.00001
NM_000286.3(PEX12):c.263G>C (p.Gly88Ala) rs1195136213 0.00001
NM_000286.3(PEX12):c.276T>C (p.Ile92=) rs1439488824 0.00001
NM_000286.3(PEX12):c.285G>A (p.Gly95=) rs1555549869 0.00001
NM_000286.3(PEX12):c.295A>G (p.Lys99Glu) rs1003905752 0.00001
NM_000286.3(PEX12):c.301C>G (p.Gln101Glu) rs1316034375 0.00001
NM_000286.3(PEX12):c.307T>C (p.Leu103=) rs765607255 0.00001
NM_000286.3(PEX12):c.319G>C (p.Gly107Arg) rs371014792 0.00001
NM_000286.3(PEX12):c.31del (p.Ala11fs) rs1290469936 0.00001
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter) rs1056238409 0.00001
NM_000286.3(PEX12):c.345A>G (p.Lys115=) rs1293631647 0.00001
NM_000286.3(PEX12):c.388C>T (p.Leu130=) rs773967871 0.00001
NM_000286.3(PEX12):c.421G>A (p.Asp141Asn) rs1260902616 0.00001
NM_000286.3(PEX12):c.431C>T (p.Ser144Phe) rs988442642 0.00001
NM_000286.3(PEX12):c.435T>G (p.Ile145Met) rs956055423 0.00001
NM_000286.3(PEX12):c.442C>T (p.Pro148Ser) rs1324878121 0.00001
NM_000286.3(PEX12):c.450C>A (p.Ser150=) rs986848130 0.00001
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter) rs888633730 0.00001
NM_000286.3(PEX12):c.539G>A (p.Arg180Gln) rs745420734 0.00001
NM_000286.3(PEX12):c.53C>T (p.Pro18Leu) rs750863211 0.00001
NM_000286.3(PEX12):c.551G>A (p.Gly184Glu) rs1241662407 0.00001
NM_000286.3(PEX12):c.55T>C (p.Ser19Pro) rs756812775 0.00001
NM_000286.3(PEX12):c.567C>T (p.His189=) rs777653456 0.00001
NM_000286.3(PEX12):c.576G>C (p.Leu192=) rs963184861 0.00001
NM_000286.3(PEX12):c.601G>T (p.Gly201Cys) rs767608984 0.00001
NM_000286.3(PEX12):c.616C>A (p.Gln206Lys) rs786205502 0.00001
NM_000286.3(PEX12):c.628G>T (p.Ala210Ser) rs763285439 0.00001
NM_000286.3(PEX12):c.666G>A (p.Gln222=) rs759295117 0.00001
NM_000286.3(PEX12):c.671C>G (p.Pro224Arg) rs984673169 0.00001
NM_000286.3(PEX12):c.680+1G>A rs904972651 0.00001
NM_000286.3(PEX12):c.708G>A (p.Leu236=) rs1404693909 0.00001
NM_000286.3(PEX12):c.734T>C (p.Leu245Ser) rs1364396743 0.00001
NM_000286.3(PEX12):c.73G>C (p.Ala25Pro) rs762591605 0.00001
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108 0.00001
NM_000286.3(PEX12):c.75A>G (p.Ala25=) rs765205355 0.00001
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) rs759584047 0.00001
NM_000286.3(PEX12):c.826T>C (p.Leu276=) rs1465512430 0.00001
NM_000286.3(PEX12):c.830C>T (p.Thr277Ile) rs1398163895 0.00001
NM_000286.3(PEX12):c.847C>T (p.Pro283Ser) rs753527027 0.00001
NM_000286.3(PEX12):c.856G>A (p.Val286Ile) rs766182813 0.00001
NM_000286.3(PEX12):c.899T>C (p.Met300Thr) rs776806092 0.00001
NM_000286.3(PEX12):c.8A>G (p.Glu3Gly) rs769571282 0.00001
NM_000286.3(PEX12):c.913C>G (p.Pro305Ala) rs1444133628 0.00001
NM_000286.3(PEX12):c.940G>C (p.Asp314His) rs1366482320 0.00001
NM_000286.3(PEX12):c.946G>C (p.Val316Leu) rs750097322 0.00001
NM_000286.3(PEX12):c.997G>T (p.Val333Leu) rs762912502 0.00001
NC_000017.10:g.(?_33902781)_(33905060_?)dup
NC_000017.11:g.35577561_35577592del rs2142231221
NM_000286.3(PEX12):c.*474A>G rs886052828
NM_000286.3(PEX12):c.*520A>G rs1298505668
NM_000286.3(PEX12):c.*550_*552del rs147182821
NM_000286.3(PEX12):c.*569_*570del rs3031851
NM_000286.3(PEX12):c.*767CTAAT[1] rs886052825
NM_000286.3(PEX12):c.*778G>A rs886052824
NM_000286.3(PEX12):c.*783A>C rs571975070
NM_000286.3(PEX12):c.*880_*883del rs35050283
NM_000286.3(PEX12):c.-145C>T rs886052832
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.-340G>T rs886052833
NM_000286.3(PEX12):c.-360G>A rs2072800546
NM_000286.3(PEX12):c.1006C>T (p.His336Tyr) rs2142228771
NM_000286.3(PEX12):c.1008C>A (p.His336Gln) rs1291823697
NM_000286.3(PEX12):c.1008C>T (p.His336=)
NM_000286.3(PEX12):c.1012G>A (p.Ala338Thr) rs2072781374
NM_000286.3(PEX12):c.1020C>T (p.Pro340=)
NM_000286.3(PEX12):c.1021A>G (p.Ile341Val)
NM_000286.3(PEX12):c.1023del (p.Thr342fs) rs1555549723
NM_000286.3(PEX12):c.1024A>G (p.Thr342Ala)
NM_000286.3(PEX12):c.1025C>T (p.Thr342Ile)
NM_000286.3(PEX12):c.1027G>A (p.Gly343Ser) rs2142228742
NM_000286.3(PEX12):c.1032T>C (p.Tyr344=) rs1352783754
NM_000286.3(PEX12):c.1038A>G (p.Thr346=)
NM_000286.3(PEX12):c.1039_1040del (p.Glu347fs) rs2142228734
NM_000286.3(PEX12):c.103C>A (p.Pro35Thr)
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.1051C>T (p.Leu351=)
NM_000286.3(PEX12):c.105C>T (p.Pro35=)
NM_000286.3(PEX12):c.1060C>G (p.Leu354Val) rs928085463
NM_000286.3(PEX12):c.1060C>T (p.Leu354Phe) rs928085463
NM_000286.3(PEX12):c.1065C>T (p.Tyr355=)
NM_000286.3(PEX12):c.1067C>T (p.Ser356Phe)
NM_000286.3(PEX12):c.106G>C (p.Ala36Pro) rs2142231624
NM_000286.3(PEX12):c.106_107delinsAT (p.Ala36Ile)
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs) rs1555549722
NM_000286.3(PEX12):c.116A>G (p.His39Arg)
NM_000286.3(PEX12):c.116del (p.His39fs) rs2142231614
NM_000286.3(PEX12):c.117T>G (p.His39Gln) rs727504078
NM_000286.3(PEX12):c.122del (p.Val41fs)
NM_000286.3(PEX12):c.124A>C (p.Lys42Gln)
NM_000286.3(PEX12):c.126+17T>C
NM_000286.3(PEX12):c.126+18G>A
NM_000286.3(PEX12):c.126+1G>A rs144259891
NM_000286.3(PEX12):c.126+1G>C
NM_000286.3(PEX12):c.126+2T>A rs1555549902
NM_000286.3(PEX12):c.126+3A>G rs2072796615
NM_000286.3(PEX12):c.127-11_127-2del rs779094557
NM_000286.3(PEX12):c.127-20A>T
NM_000286.3(PEX12):c.127-3T>A rs2142231281
NM_000286.3(PEX12):c.127-6C>T
NM_000286.3(PEX12):c.127-7G>T
NM_000286.3(PEX12):c.138A>G (p.Glu46=)
NM_000286.3(PEX12):c.13G>A (p.Gly5Arg) rs2142231778
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
NM_000286.3(PEX12):c.143A>T (p.Asn48Ile)
NM_000286.3(PEX12):c.145C>G (p.Pro49Ala) rs2142231256
NM_000286.3(PEX12):c.150C>A (p.Thr50=) rs2142231241
NM_000286.3(PEX12):c.151_154del (p.His51fs) rs2142231234
NM_000286.3(PEX12):c.163T>C (p.Leu55=)
NM_000286.3(PEX12):c.16G>A (p.Ala6Thr) rs1344931108
NM_000286.3(PEX12):c.174del (p.Trp58fs) rs2142231201
NM_000286.3(PEX12):c.186C>T (p.Ile62=) rs1243883362
NM_000286.3(PEX12):c.18T>C (p.Ala6=) rs2142231767
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del) rs1555549917
NM_000286.3(PEX12):c.190_194del (p.Thr64fs) rs1214971073
NM_000286.3(PEX12):c.192T>C (p.Thr64=) rs2072793963
NM_000286.3(PEX12):c.193C>T (p.Leu65=) rs923069079
NM_000286.3(PEX12):c.1_2del (p.Met1fs) rs1555549923
NM_000286.3(PEX12):c.200A>G (p.Asp67Gly) rs2072793873
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del) rs61752098
NM_000286.3(PEX12):c.203T>A (p.Leu68His) rs2072793797
NM_000286.3(PEX12):c.207G>T (p.Leu69=)
NM_000286.3(PEX12):c.207_209del (p.Leu70del)
NM_000286.3(PEX12):c.20_21dup (p.Phe8fs)
NM_000286.3(PEX12):c.210C>G (p.Leu70=) rs2142231132
NM_000286.3(PEX12):c.218A>G (p.His73Arg)
NM_000286.3(PEX12):c.220T>C (p.Tyr74His)
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.3(PEX12):c.222dup (p.Leu75fs) rs2142231111
NM_000286.3(PEX12):c.223C>T (p.Leu75=) rs2072793560
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) rs1555549876
NM_000286.3(PEX12):c.225G>A (p.Leu75=) rs1353291478
NM_000286.3(PEX12):c.233C>T (p.Thr78Ile)
NM_000286.3(PEX12):c.238G>A (p.Ala80Thr)
NM_000286.3(PEX12):c.239C>T (p.Ala80Val) rs2072793061
NM_000286.3(PEX12):c.244T>C (p.Phe82Leu) rs2142231070
NM_000286.3(PEX12):c.255C>T (p.Asn85=)
NM_000286.3(PEX12):c.258T>C (p.Phe86=)
NM_000286.3(PEX12):c.260_261insAA (p.Tyr87Ter) rs61752099
NM_000286.3(PEX12):c.268_269del (p.Lys90fs)
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.271A>C (p.Arg91=) rs2072792820
NM_000286.3(PEX12):c.272G>C (p.Arg91Thr) rs2142231028
NM_000286.3(PEX12):c.273A>G (p.Arg91=)
NM_000286.3(PEX12):c.27A>G (p.Thr9=)
NM_000286.3(PEX12):c.286del (p.Asp96fs)
NM_000286.3(PEX12):c.288C>T (p.Asp96=) rs2072792666
NM_000286.3(PEX12):c.291T>C (p.Thr97=) rs756033737
NM_000286.3(PEX12):c.291T>G (p.Thr97=)
NM_000286.3(PEX12):c.29C>T (p.Ala10Val)
NM_000286.3(PEX12):c.302A>G (p.Gln101Arg)
NM_000286.3(PEX12):c.305G>C (p.Arg102Thr) rs2072792418
NM_000286.3(PEX12):c.305_306del (p.Arg102fs) rs2142230957
NM_000286.3(PEX12):c.308dup (p.Leu103fs) rs61752101
NM_000286.3(PEX12):c.30T>C (p.Ala10=)
NM_000286.3(PEX12):c.315T>C (p.Ser105=) rs1597923365
NM_000286.3(PEX12):c.321T>C (p.Gly107=)
NM_000286.3(PEX12):c.324C>T (p.Leu108=)
NM_000286.3(PEX12):c.329dup (p.Gln111fs)
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.33T>C (p.Ala11=)
NM_000286.3(PEX12):c.342G>A (p.Trp114Ter) rs2142230890
NM_000286.3(PEX12):c.348T>C (p.Ser116=) rs2142230874
NM_000286.3(PEX12):c.348dup (p.Ile117fs)
NM_000286.3(PEX12):c.349A>C (p.Ile117Leu)
NM_000286.3(PEX12):c.351T>C (p.Ile117=) rs2142230866
NM_000286.3(PEX12):c.353T>C (p.Met118Thr) rs879075660
NM_000286.3(PEX12):c.354G>A (p.Met118Ile) rs1025113717
NM_000286.3(PEX12):c.360G>C (p.Leu120=) rs772417571
NM_000286.3(PEX12):c.361G>T (p.Val121Phe)
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.363del (p.Leu122fs)
NM_000286.3(PEX12):c.372C>G (p.Pro124=)
NM_000286.3(PEX12):c.373T>C (p.Tyr125His) rs2142230828
NM_000286.3(PEX12):c.374A>T (p.Tyr125Phe)
NM_000286.3(PEX12):c.375T>C (p.Tyr125=) rs1451972501
NM_000286.3(PEX12):c.379A>T (p.Lys127Ter)
NM_000286.3(PEX12):c.382G>A (p.Val128Met) rs2142230817
NM_000286.3(PEX12):c.391G>A (p.Glu131Lys) rs768259519
NM_000286.3(PEX12):c.391_408dup (p.Glu131_Ser136dup) rs2142230787
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del) rs1458853023
NM_000286.3(PEX12):c.396G>A (p.Lys132=) rs2142230806
NM_000286.3(PEX12):c.398T>C (p.Leu133Pro)
NM_000286.3(PEX12):c.399G>T (p.Leu133=)
NM_000286.3(PEX12):c.408C>T (p.Ser136=) rs1198655195
NM_000286.3(PEX12):c.413G>T (p.Arg138Ile) rs1269271203
NM_000286.3(PEX12):c.414A>G (p.Arg138=)
NM_000286.3(PEX12):c.415G>A (p.Glu139Lys)
NM_000286.3(PEX12):c.424G>A (p.Glu142Lys) rs2142230751
NM_000286.3(PEX12):c.428A>G (p.Tyr143Cys)
NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)
NM_000286.3(PEX12):c.42C>G (p.Ala14=) rs1397167479
NM_000286.3(PEX12):c.430T>C (p.Ser144Pro) rs2072791318
NM_000286.3(PEX12):c.437A>G (p.His146Arg)
NM_000286.3(PEX12):c.43G>A (p.Asp15Asn) rs200048804
NM_000286.3(PEX12):c.445_454del (p.Ser149fs) rs1567730901
NM_000286.3(PEX12):c.44A>C (p.Asp15Ala)
NM_000286.3(PEX12):c.455G>A (p.Trp152Ter)
NM_000286.3(PEX12):c.459del (p.Lys153fs)
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.3(PEX12):c.461G>A (p.Arg154Gln) rs564816937
NM_000286.3(PEX12):c.462A>G (p.Arg154=)
NM_000286.3(PEX12):c.471del (p.Ala158fs) rs2142230667
NM_000286.3(PEX12):c.474T>C (p.Ala158=) rs2072790859
NM_000286.3(PEX12):c.483A>G (p.Ala161=)
NM_000286.3(PEX12):c.485C>G (p.Ala162Gly) rs2142230649
NM_000286.3(PEX12):c.486C>T (p.Ala162=)
NM_000286.3(PEX12):c.492A>G (p.Pro164=) rs2142230631
NM_000286.3(PEX12):c.495T>C (p.Phe165=) rs2142230624
NM_000286.3(PEX12):c.498G>A (p.Val166=)
NM_000286.3(PEX12):c.4del (p.Ala2fs)
NM_000286.3(PEX12):c.505G>A (p.Ala169Thr) rs2142230618
NM_000286.3(PEX12):c.511del (p.Glu171fs) rs945104524
NM_000286.3(PEX12):c.514G>A (p.Gly172Arg) rs202025715
NM_000286.3(PEX12):c.518G>A (p.Trp173Ter) rs923109489
NM_000286.3(PEX12):c.51G>A (p.Gln17=) rs561976188
NM_000286.3(PEX12):c.51G>C (p.Gln17His)
NM_000286.3(PEX12):c.51_54del (p.Gln17fs) rs886041458
NM_000286.3(PEX12):c.524T>G (p.Leu175Arg)
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.531A>G (p.Gln177=)
NM_000286.3(PEX12):c.535C>T (p.Leu179Phe)
NM_000286.3(PEX12):c.538C>G (p.Arg180Gly) rs61752103
NM_000286.3(PEX12):c.541T>C (p.Tyr181His)
NM_000286.3(PEX12):c.541dup (p.Tyr181fs)
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
NM_000286.3(PEX12):c.544A>C (p.Ile182Leu)
NM_000286.3(PEX12):c.546C>G (p.Ile182Met)
NM_000286.3(PEX12):c.547C>T (p.Leu183=) rs1230959859
NM_000286.3(PEX12):c.54A>G (p.Pro18=)
NM_000286.3(PEX12):c.564T>C (p.His188=)
NM_000286.3(PEX12):c.565C>T (p.His189Tyr) rs1336163775
NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)
NM_000286.3(PEX12):c.571C>A (p.Pro191Thr) rs2072790056
NM_000286.3(PEX12):c.573A>G (p.Pro191=)
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
NM_000286.3(PEX12):c.574C>T (p.Leu192=) rs2142230532
NM_000286.3(PEX12):c.582G>A (p.Arg194=) rs2072790006
NM_000286.3(PEX12):c.583C>T (p.Leu195=)
NM_000286.3(PEX12):c.586G>C (p.Ala196Pro)
NM_000286.3(PEX12):c.599T>C (p.Leu200Pro)
NM_000286.3(PEX12):c.608T>C (p.Leu203Pro) rs896156854
NM_000286.3(PEX12):c.60C>T (p.Ile20=) rs2142231683
NM_000286.3(PEX12):c.611_612del (p.Thr204fs)
NM_000286.3(PEX12):c.624A>T (p.Ile208=)
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.62_63del (p.Ile20_Phe21insTer) rs2072797369
NM_000286.3(PEX12):c.633G>A (p.Leu211=)
NM_000286.3(PEX12):c.635A>G (p.Glu212Gly)
NM_000286.3(PEX12):c.641A>G (p.Lys214Arg)
NM_000286.3(PEX12):c.644del (p.Pro215fs) rs1199283977
NM_000286.3(PEX12):c.645A>G (p.Pro215=) rs2142230422
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter) rs1555549841
NM_000286.3(PEX12):c.669A>G (p.Gln223=) rs776230088
NM_000286.3(PEX12):c.669del (p.Gln223fs)
NM_000286.3(PEX12):c.66G>A (p.Glu22=)
NM_000286.3(PEX12):c.675C>T (p.Ala225=)
NM_000286.3(PEX12):c.680+10T>C rs2142230380
NM_000286.3(PEX12):c.680+11A>G
NM_000286.3(PEX12):c.680+12A>T
NM_000286.3(PEX12):c.680+18C>T rs2142230370
NM_000286.3(PEX12):c.680+19C>T
NM_000286.3(PEX12):c.680+3A>G
NM_000286.3(PEX12):c.680+8C>T
NM_000286.3(PEX12):c.680G>A (p.Ser227Asn) rs1428801230
NM_000286.3(PEX12):c.680_680+12del
NM_000286.3(PEX12):c.680_680+1delinsCA rs2142230388
NM_000286.3(PEX12):c.681-15_681-13del
NM_000286.3(PEX12):c.681-21_681-19del rs2142229430
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000286.3(PEX12):c.681-5A>C
NM_000286.3(PEX12):c.684T>C (p.Val228=)
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.687_690del (p.Ser229fs) rs1555549769
NM_000286.3(PEX12):c.691A>T (p.Lys231Ter) rs104894616
NM_000286.3(PEX12):c.693G>A (p.Lys231=)
NM_000286.3(PEX12):c.698dup (p.Asn233fs)
NM_000286.3(PEX12):c.699C>T (p.Asn233=) rs2142229355
NM_000286.3(PEX12):c.69G>A (p.Val23=)
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) rs1238451790
NM_000286.3(PEX12):c.6T>C (p.Ala2=) rs2142231791
NM_000286.3(PEX12):c.705T>C (p.Ala235=) rs2072784066
NM_000286.3(PEX12):c.706C>T (p.Leu236=) rs2142229341
NM_000286.3(PEX12):c.714A>G (p.Lys238=) rs2142229321
NM_000286.3(PEX12):c.723G>A (p.Gly241=)
NM_000286.3(PEX12):c.725del (p.Gly242fs)
NM_000286.3(PEX12):c.727G>A (p.Val243Ile)
NM_000286.3(PEX12):c.727G>T (p.Val243Phe)
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.739C>G (p.Leu247Val) rs1030736075
NM_000286.3(PEX12):c.740T>C (p.Leu247Pro)
NM_000286.3(PEX12):c.744T>C (p.Ser248=)
NM_000286.3(PEX12):c.760G>A (p.Gly254Ser)
NM_000286.3(PEX12):c.761G>C (p.Gly254Ala) rs2072783485
NM_000286.3(PEX12):c.765A>G (p.Val255=) rs1438298273
NM_000286.3(PEX12):c.765_766dup (p.Phe256fs) rs1057519507
NM_000286.3(PEX12):c.768CTT[1] (p.Phe257del) rs1567729860
NM_000286.3(PEX12):c.76C>T (p.Gln26Ter)
NM_000286.3(PEX12):c.771del (p.Leu258fs) rs1555549754
NM_000286.3(PEX12):c.775C>T (p.Gln259Ter)
NM_000286.3(PEX12):c.777G>A (p.Gln259=) rs1317256470
NM_000286.3(PEX12):c.781C>T (p.Leu261Phe)
NM_000286.3(PEX12):c.781del (p.Asp262fs) rs754193088
NM_000286.3(PEX12):c.783T>C (p.Leu261=) rs1192515379
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.3(PEX12):c.795C>G (p.Tyr265Ter) rs1429126106
NM_000286.3(PEX12):c.795C>T (p.Tyr265=) rs1429126106
NM_000286.3(PEX12):c.799T>C (p.Ser267Pro) rs2142229155
NM_000286.3(PEX12):c.804A>G (p.Glu268=)
NM_000286.3(PEX12):c.808del (p.Gln270fs)
NM_000286.3(PEX12):c.816C>G (p.Thr272=)
NM_000286.3(PEX12):c.816dup (p.Ile273fs)
NM_000286.3(PEX12):c.819C>T (p.Ile273=)
NM_000286.3(PEX12):c.822G>C (p.Lys274Asn)
NM_000286.3(PEX12):c.827T>C (p.Leu276Ser)
NM_000286.3(PEX12):c.829_832del (p.Thr277fs)
NM_000286.3(PEX12):c.83G>A (p.Ser28Asn)
NM_000286.3(PEX12):c.842del (p.Thr281fs) rs2072782816
NM_000286.3(PEX12):c.844C>G (p.Pro282Ala)
NM_000286.3(PEX12):c.846A>G (p.Pro282=)
NM_000286.3(PEX12):c.849A>G (p.Pro283=) rs1597922401
NM_000286.3(PEX12):c.857T>C (p.Val286Ala)
NM_000286.3(PEX12):c.860A>T (p.His287Leu) rs2142229061
NM_000286.3(PEX12):c.861C>T (p.His287=) rs2072782684
NM_000286.3(PEX12):c.864A>G (p.Leu288=) rs2142229051
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del) rs1366848752
NM_000286.3(PEX12):c.86del (p.Ser28_Leu29insTer)
NM_000286.3(PEX12):c.872A>C (p.Asn291Thr)
NM_000286.3(PEX12):c.875_876del (p.Asn291_Ser292insTer)
NM_000286.3(PEX12):c.876_877insTT (p.Asp293fs)
NM_000286.3(PEX12):c.877G>A (p.Asp293Asn) rs2142229035
NM_000286.3(PEX12):c.885C>T (p.Pro295=) rs2142229017
NM_000286.3(PEX12):c.886C>G (p.Leu296Val)
NM_000286.3(PEX12):c.886C>T (p.Leu296Phe)
NM_000286.3(PEX12):c.887del (p.Leu296fs)
NM_000286.3(PEX12):c.888C>G (p.Leu296=) rs2142229002
NM_000286.3(PEX12):c.888C>T (p.Leu296=) rs2142229002
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000286.3(PEX12):c.889T>G (p.Leu297Val)
NM_000286.3(PEX12):c.88_89del (p.Met30fs) rs1555549909
NM_000286.3(PEX12):c.890T>G (p.Leu297Ter)
NM_000286.3(PEX12):c.892C>T (p.Pro298Ser) rs2072782397
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) rs398123302
NM_000286.3(PEX12):c.895A>T (p.Lys299Ter) rs2142228982
NM_000286.3(PEX12):c.906T>C (p.Thr302=) rs371277434
NM_000286.3(PEX12):c.908T>C (p.Val303Ala) rs2142228949
NM_000286.3(PEX12):c.910_911del (p.Cys304fs) rs867245161
NM_000286.3(PEX12):c.912C>T (p.Cys304=) rs772194164
NM_000286.3(PEX12):c.913C>T (p.Pro305Ser) rs1444133628
NM_000286.3(PEX12):c.915A>C (p.Pro305=)
NM_000286.3(PEX12):c.920_921del (p.Cys307fs) rs2142228928
NM_000286.3(PEX12):c.921T>C (p.Cys307=)
NM_000286.3(PEX12):c.936G>A (p.Val312=) rs2142228901
NM_000286.3(PEX12):c.936G>T (p.Val312=)
NM_000286.3(PEX12):c.939T>A (p.Asn313Lys)
NM_000286.3(PEX12):c.939T>C (p.Asn313=)
NM_000286.3(PEX12):c.93A>C (p.Thr31=) rs141198490
NM_000286.3(PEX12):c.944C>A (p.Thr315Asn) rs2142228884
NM_000286.3(PEX12):c.945T>A (p.Thr315=)
NM_000286.3(PEX12):c.947T>G (p.Val316Gly)
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) rs61752112
NM_000286.3(PEX12):c.94G>A (p.Ala32Thr) rs2142231638
NM_000286.3(PEX12):c.957C>G (p.Thr319=)
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000286.3(PEX12):c.961_964del (p.Gly321fs) rs749650201
NM_000286.3(PEX12):c.963C>G (p.Gly321=)
NM_000286.3(PEX12):c.966T>C (p.Tyr322=)
NM_000286.3(PEX12):c.967G>C (p.Val323Leu) rs2142228853
NM_000286.3(PEX12):c.969G>A (p.Val323=) rs2142228848
NM_000286.3(PEX12):c.969_970del (p.Phe324fs) rs2072781707
NM_000286.3(PEX12):c.972T>C (p.Phe324=)
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter) rs941358133
NM_000286.3(PEX12):c.978C>T (p.Tyr326=)
NM_000286.3(PEX12):c.979C>T (p.Arg327Cys)
NM_000286.3(PEX12):c.980G>A (p.Arg327His)
NM_000286.3(PEX12):c.987G>A (p.Val329=)
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253
NM_000286.3(PEX12):c.9G>A (p.Glu3=) rs2072797963
NM_000286.3(PEX12):c.9G>C (p.Glu3Asp) rs2072797963

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