ClinVar Miner

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

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103 0.00003
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter) rs61752105 0.00003
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894 0.00001
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) rs767447750 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.49C>T (p.Gln17Ter) rs888633730 0.00001
NM_000286.3(PEX12):c.680+1G>A rs904972651 0.00001
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108 0.00001
NC_000017.11:g.35577561_35577592del rs2142231221
NM_000286.3(PEX12):c.1039_1040del (p.Glu347fs) rs2142228734
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.116del (p.His39fs) rs2142231614
NM_000286.3(PEX12):c.122del (p.Val41fs)
NM_000286.3(PEX12):c.126+1G>A rs144259891
NM_000286.3(PEX12):c.126+1G>C
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
NM_000286.3(PEX12):c.151_154del (p.His51fs) rs2142231234
NM_000286.3(PEX12):c.174del (p.Trp58fs) rs2142231201
NM_000286.3(PEX12):c.20_21dup (p.Phe8fs)
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.3(PEX12):c.222dup (p.Leu75fs) rs2142231111
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) rs1555549876
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.286del (p.Asp96fs)
NM_000286.3(PEX12):c.305_306del (p.Arg102fs) rs2142230957
NM_000286.3(PEX12):c.308dup (p.Leu103fs) rs61752101
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.342G>A (p.Trp114Ter) rs2142230890
NM_000286.3(PEX12):c.348dup (p.Ile117fs)
NM_000286.3(PEX12):c.379A>T (p.Lys127Ter)
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.471del (p.Ala158fs) rs2142230667
NM_000286.3(PEX12):c.4del (p.Ala2fs)
NM_000286.3(PEX12):c.511del (p.Glu171fs) rs945104524
NM_000286.3(PEX12):c.518G>A (p.Trp173Ter) rs923109489
NM_000286.3(PEX12):c.51_54del (p.Gln17fs) rs886041458
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.541dup (p.Tyr181fs)
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
NM_000286.3(PEX12):c.569C>G (p.Ser190Ter)
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
NM_000286.3(PEX12):c.611_612del (p.Thr204fs)
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.644del (p.Pro215fs) rs1199283977
NM_000286.3(PEX12):c.669del (p.Gln223fs)
NM_000286.3(PEX12):c.680_680+12del
NM_000286.3(PEX12):c.680_680+1delinsCA rs2142230388
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.691A>T (p.Lys231Ter) rs104894616
NM_000286.3(PEX12):c.698dup (p.Asn233fs)
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) rs1238451790
NM_000286.3(PEX12):c.725del (p.Gly242fs)
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.765_766dup (p.Phe256fs) rs1057519507
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.781del (p.Asp262fs) rs754193088
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.808del (p.Gln270fs)
NM_000286.3(PEX12):c.816dup (p.Ile273fs)
NM_000286.3(PEX12):c.829_832del (p.Thr277fs)
NM_000286.3(PEX12):c.842del (p.Thr281fs) rs2072782816
NM_000286.3(PEX12):c.86del (p.Ser28_Leu29insTer)
NM_000286.3(PEX12):c.875_876del (p.Asn291_Ser292insTer)
NM_000286.3(PEX12):c.887del (p.Leu296fs)
NM_000286.3(PEX12):c.888_889del (p.Leu297fs) rs398123301
NM_000286.3(PEX12):c.890T>G (p.Leu297Ter)
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.910_911del (p.Cys304fs) rs867245161
NM_000286.3(PEX12):c.920_921del (p.Cys307fs) rs2142228928
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.969_970del (p.Phe324fs) rs2072781707
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253

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