ClinVar Miner

List of variants in gene PEX12 reported as uncertain significance for Zellweger syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NC_000017.10:g.(?_33902781)_(33905060_?)dup
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.*519A>G rs886052827
NM_000286.3(PEX12):c.*532A>G rs886052826
NM_000286.3(PEX12):c.*569T>A rs541598688
NM_000286.3(PEX12):c.*767_*771CTAAT[1] rs886052825
NM_000286.3(PEX12):c.*778G>A rs886052824
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.-434A>C rs771210303
NM_000286.3(PEX12):c.-495C>T rs577172680
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.1070_1071del (p.Pro357fs) rs1555549722
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.201_203TCT[1] (p.Leu70del) rs61752098
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.722G>T (p.Gly241Val) rs139417458
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) rs759584047
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.949C>T (p.Leu317Phe) rs61752112
NM_000286.3(PEX12):c.983_984GT[2] (p.Phe330fs) rs764657253

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