ClinVar Miner

List of variants in gene PEX12 studied for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP
NC_000017.10:g.(?_33902781)_(33905060_?)dup
NM_000286.3(PEX12):c.*166C>A rs1037590
NM_000286.3(PEX12):c.*297T>C rs113891712
NM_000286.3(PEX12):c.*335T>C rs886052830
NM_000286.3(PEX12):c.*380G>C rs762716335
NM_000286.3(PEX12):c.*433T>C rs886052829
NM_000286.3(PEX12):c.*474A>G rs886052828
NM_000286.3(PEX12):c.*517A>G rs1046321
NM_000286.3(PEX12):c.*519A>G rs886052827
NM_000286.3(PEX12):c.*532A>G rs886052826
NM_000286.3(PEX12):c.*550_*552del rs147182821
NM_000286.3(PEX12):c.*569T>A rs541598688
NM_000286.3(PEX12):c.*569_*570del rs3031851
NM_000286.3(PEX12):c.*636T>C rs111424374
NM_000286.3(PEX12):c.*767_*771CTAAT[1] rs886052825
NM_000286.3(PEX12):c.*778G>A rs886052824
NM_000286.3(PEX12):c.*836G>C rs10068
NM_000286.3(PEX12):c.*880_*883del rs35050283
NM_000286.3(PEX12):c.*922T>C rs886052823
NM_000286.3(PEX12):c.-108A>G rs886052831
NM_000286.3(PEX12):c.-138T>C rs543169335
NM_000286.3(PEX12):c.-145C>T rs886052832
NM_000286.3(PEX12):c.-147C>T rs559905700
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.-340G>T rs886052833
NM_000286.3(PEX12):c.-405C>G rs886052834
NM_000286.3(PEX12):c.-427G>A rs531286605
NM_000286.3(PEX12):c.-428T>C rs321600
NM_000286.3(PEX12):c.-434A>C rs771210303
NM_000286.3(PEX12):c.-495C>T rs577172680
NM_000286.3(PEX12):c.-534C>T rs2278950
NM_000286.3(PEX12):c.1002G>A (p.Arg334=) rs200283718
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894
NM_000286.3(PEX12):c.1023del (p.Thr342fs) rs1555549723
NM_000286.3(PEX12):c.1044_1046ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs) rs1555549722
NM_000286.3(PEX12):c.126+1G>T rs144259891
NM_000286.3(PEX12):c.126+2T>A rs1555549902
NM_000286.3(PEX12):c.182_184dup (p.Ile62_Phe63insLys) rs1412916235
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.1_2del (p.Met1fs) rs1555549923
NM_000286.3(PEX12):c.201_203TCT[1] (p.Leu70del) rs61752098
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) rs767447750
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) rs1555549876
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.349A>G (p.Ile117Val) rs767207001
NM_000286.3(PEX12):c.353T>C (p.Met118Thr) rs879075660
NM_000286.3(PEX12):c.362_364TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del) rs1458853023
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp) rs193253559
NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer) rs1555549862
NM_000286.3(PEX12):c.445_454del (p.Ser149fs) rs1567730901
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter) rs888633730
NM_000286.3(PEX12):c.530_532AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter) rs61752105
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.644del (p.Pro215fs) rs1199283977
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter) rs1555549841
NM_000286.3(PEX12):c.680+1G>A rs904972651
NM_000286.3(PEX12):c.681-2A>C rs187526749
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
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.69_76dup (p.Gln26delinsArgTer) rs1238451790
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108
NM_000286.3(PEX12):c.765_766dup (p.Phe256fs) rs1057519507
NM_000286.3(PEX12):c.771del (p.Leu258fs) rs1555549754
NM_000286.3(PEX12):c.781del (p.Asp262fs) rs754193088
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) rs759584047
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.3(PEX12):c.84T>C (p.Ser28=) rs200641558
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del) rs1366848752
NM_000286.3(PEX12):c.886_887CT[1] (p.Leu297fs) rs398123301
NM_000286.3(PEX12):c.88_89del (p.Met30fs) rs1555549909
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) rs398123302
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) rs61752112
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.978C>A (p.Tyr326Ter) rs941358133
NM_000286.3(PEX12):c.983_984GT[2] (p.Phe330fs) rs764657253
PEX12, 1-BP INS, 744T
PEX12, 4-BP DEL, 684TAGT
PEX12, 4-BP INS, 733GCCT

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