ClinVar Miner

List of variants in gene PEX12 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
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.-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.46G>A (p.Asp16Asn) rs979319729 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.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.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.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.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.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.1021A>T (p.Ile341Phe) rs772028045 0.00001
NM_000286.3(PEX12):c.1042G>A (p.Val348Ile) rs2072781156 0.00001
NM_000286.3(PEX12):c.126+6G>A rs1342667188 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.237T>A (p.Ser79Arg) rs773576922 0.00001
NM_000286.3(PEX12):c.263G>C (p.Gly88Ala) rs1195136213 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.319G>C (p.Gly107Arg) rs371014792 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.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.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.671C>G (p.Pro224Arg) rs984673169 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.785_787del (p.Asp262_Trp263delinsGly) rs759584047 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
NM_000286.3(PEX12):c.*474A>G rs886052828
NM_000286.3(PEX12):c.*520A>G rs1298505668
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.-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.1012G>A (p.Ala338Thr) rs2072781374
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.103C>A (p.Pro35Thr)
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.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.117T>G (p.His39Gln) rs727504078
NM_000286.3(PEX12):c.124A>C (p.Lys42Gln)
NM_000286.3(PEX12):c.126+3A>G rs2072796615
NM_000286.3(PEX12):c.127-3T>A rs2142231281
NM_000286.3(PEX12):c.13G>A (p.Gly5Arg) rs2142231778
NM_000286.3(PEX12):c.143A>T (p.Asn48Ile)
NM_000286.3(PEX12):c.145C>G (p.Pro49Ala) rs2142231256
NM_000286.3(PEX12):c.16G>A (p.Ala6Thr) rs1344931108
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del) rs1555549917
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.207_209del (p.Leu70del)
NM_000286.3(PEX12):c.218A>G (p.His73Arg)
NM_000286.3(PEX12):c.220T>C (p.Tyr74His)
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.272G>C (p.Arg91Thr) rs2142231028
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.349A>C (p.Ile117Leu)
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.361G>T (p.Val121Phe)
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.373T>C (p.Tyr125His) rs2142230828
NM_000286.3(PEX12):c.374A>T (p.Tyr125Phe)
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.398T>C (p.Leu133Pro)
NM_000286.3(PEX12):c.413G>T (p.Arg138Ile) rs1269271203
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.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.44A>C (p.Asp15Ala)
NM_000286.3(PEX12):c.461G>A (p.Arg154Gln) rs564816937
NM_000286.3(PEX12):c.485C>G (p.Ala162Gly) rs2142230649
NM_000286.3(PEX12):c.505G>A (p.Ala169Thr) rs2142230618
NM_000286.3(PEX12):c.514G>A (p.Gly172Arg) rs202025715
NM_000286.3(PEX12):c.51G>C (p.Gln17His)
NM_000286.3(PEX12):c.524T>G (p.Leu175Arg)
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.544A>C (p.Ile182Leu)
NM_000286.3(PEX12):c.546C>G (p.Ile182Met)
NM_000286.3(PEX12):c.565C>T (p.His189Tyr) rs1336163775
NM_000286.3(PEX12):c.571C>A (p.Pro191Thr) rs2072790056
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.635A>G (p.Glu212Gly)
NM_000286.3(PEX12):c.641A>G (p.Lys214Arg)
NM_000286.3(PEX12):c.680+3A>G
NM_000286.3(PEX12):c.680G>A (p.Ser227Asn) rs1428801230
NM_000286.3(PEX12):c.727G>A (p.Val243Ile)
NM_000286.3(PEX12):c.727G>T (p.Val243Phe)
NM_000286.3(PEX12):c.739C>G (p.Leu247Val) rs1030736075
NM_000286.3(PEX12):c.740T>C (p.Leu247Pro)
NM_000286.3(PEX12):c.760G>A (p.Gly254Ser)
NM_000286.3(PEX12):c.761G>C (p.Gly254Ala) rs2072783485
NM_000286.3(PEX12):c.768CTT[1] (p.Phe257del) rs1567729860
NM_000286.3(PEX12):c.781C>T (p.Leu261Phe)
NM_000286.3(PEX12):c.799T>C (p.Ser267Pro) rs2142229155
NM_000286.3(PEX12):c.822G>C (p.Lys274Asn)
NM_000286.3(PEX12):c.827T>C (p.Leu276Ser)
NM_000286.3(PEX12):c.83G>A (p.Ser28Asn)
NM_000286.3(PEX12):c.844C>G (p.Pro282Ala)
NM_000286.3(PEX12):c.857T>C (p.Val286Ala)
NM_000286.3(PEX12):c.860A>T (p.His287Leu) rs2142229061
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del) rs1366848752
NM_000286.3(PEX12):c.872A>C (p.Asn291Thr)
NM_000286.3(PEX12):c.877G>A (p.Asp293Asn) rs2142229035
NM_000286.3(PEX12):c.886C>G (p.Leu296Val)
NM_000286.3(PEX12):c.886C>T (p.Leu296Phe)
NM_000286.3(PEX12):c.889T>G (p.Leu297Val)
NM_000286.3(PEX12):c.892C>T (p.Pro298Ser) rs2072782397
NM_000286.3(PEX12):c.908T>C (p.Val303Ala) rs2142228949
NM_000286.3(PEX12):c.913C>T (p.Pro305Ser) rs1444133628
NM_000286.3(PEX12):c.939T>A (p.Asn313Lys)
NM_000286.3(PEX12):c.944C>A (p.Thr315Asn) rs2142228884
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.967G>C (p.Val323Leu) rs2142228853
NM_000286.3(PEX12):c.979C>T (p.Arg327Cys)
NM_000286.3(PEX12):c.980G>A (p.Arg327His)
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253
NM_000286.3(PEX12):c.9G>C (p.Glu3Asp) rs2072797963

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