ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) by Counsyl

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Total variants: 44
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HGVS dbSNP gnomAD frequency
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.349A>G (p.Ile117Val) rs767207001 0.00002
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894 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.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
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) rs759584047 0.00001
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.1023del (p.Thr342fs) rs1555549723
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs) rs1555549722
NM_000286.3(PEX12):c.126+2T>A rs1555549902
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.201TCT[1] (p.Leu70del) rs61752098
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.353T>C (p.Met118Thr) rs879075660
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del) rs1458853023
NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
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.687_690del (p.Ser229fs) rs1555549769
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) rs1238451790
NM_000286.3(PEX12):c.771del (p.Leu258fs) rs1555549754
NM_000286.3(PEX12):c.781del (p.Asp262fs) rs754193088
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del) rs1366848752
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.961_964del (p.Gly321fs) rs749650201
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter) rs941358133
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253

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