ClinVar Miner

List of variants in gene PEX12 studied for adrenal gland disease

Included ClinVar conditions (122):
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_000286.2(PEX12):c.1009C>T (p.Gln337Ter) rs760739894
NM_000286.2(PEX12):c.1023delC (p.Thr342Glnfs) rs1555549723
NM_000286.2(PEX12):c.1047_1049delACA (p.Gln349del) rs267608184
NM_000286.2(PEX12):c.1070_1071delCT (p.Pro357Argfs) rs1555549722
NM_000286.2(PEX12):c.126+1G>T rs144259891
NM_000286.2(PEX12):c.126+2T>A rs1555549902
NM_000286.2(PEX12):c.182_184dup (p.Glu61_Ile62insLys) rs1412916235
NM_000286.2(PEX12):c.18_41del24 (p.His7_Ala14del) rs1555549917
NM_000286.2(PEX12):c.190_194del5 (p.Thr64Alafs) rs1214971073
NM_000286.2(PEX12):c.1_2delAT (p.Met1Glyfs) rs1555549923
NM_000286.2(PEX12):c.204_206delTCT (p.Leu70del) rs61752098
NM_000286.2(PEX12):c.211C>T (p.Gln71Ter) rs767447750
NM_000286.2(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.2(PEX12):c.223_224delCT (p.Leu75Valfs) rs1555549876
NM_000286.2(PEX12):c.268_271delAAGA (p.Lys90Glufs) rs61752100
NM_000286.2(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.2(PEX12):c.349A>G (p.Ile117Val) rs767207001
NM_000286.2(PEX12):c.353T>C (p.Met118Thr) rs879075660
NM_000286.2(PEX12):c.368_370delTTC (p.Leu123del) rs751058068
NM_000286.2(PEX12):c.392_400del9 (p.Glu131_Leu133del) rs1458853023
NM_000286.2(PEX12):c.429_431delTTCinsGAA (p.Tyr143Ter) rs1555549862
NM_000286.2(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.2(PEX12):c.49C>T (p.Gln17Ter) rs888633730
NM_000286.2(PEX12):c.533_535delAAC (p.Gln178del) rs61752102
NM_000286.2(PEX12):c.538C>T (p.Arg180Ter) rs61752103
NM_000286.2(PEX12):c.604C>T (p.Arg202Ter) rs61752105
NM_000286.2(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.2(PEX12):c.644delC (p.Pro215Glnfs) rs1199283977
NM_000286.2(PEX12):c.664C>T (p.Gln222Ter) rs1555549841
NM_000286.2(PEX12):c.680+1G>A rs904972651
NM_000286.2(PEX12):c.681-2A>C rs187526749
NM_000286.2(PEX12):c.684_687delTAGT (p.Ser229Argfs) rs62642859
NM_000286.2(PEX12):c.687_690delTGAG (p.Ser229Argfs) rs1555549769
NM_000286.2(PEX12):c.69_76dup (p.Gln26Argfs) rs1238451790
NM_000286.2(PEX12):c.730_733dupGCCT (p.Leu245Cysfs) rs61752107
NM_000286.2(PEX12):c.744dup (p.Thr249Tyrfs) rs61752108
NM_000286.2(PEX12):c.771delC (p.Leu258Cysfs) rs1555549754
NM_000286.2(PEX12):c.781delC (p.Asp262Thrfs) rs754193088
NM_000286.2(PEX12):c.785_787delACT (p.Asp262_Trp263delinsGly) rs759584047
NM_000286.2(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.2(PEX12):c.865_870del6 (p.Asp289_Tyr290del) rs1366848752
NM_000286.2(PEX12):c.888_889delCT (p.Leu297Thrfs) rs398123301
NM_000286.2(PEX12):c.88_89delAT (p.Met30Aspfs) rs1555549909
NM_000286.2(PEX12):c.894delC (p.Met300Terfs) rs398123302
NM_000286.2(PEX12):c.949C>T (p.Leu317Phe) rs61752112
NM_000286.2(PEX12):c.961_964delGGCT (p.Gly321Metfs) rs749650201
NM_000286.2(PEX12):c.978C>A (p.Tyr326Ter) rs941358133
NM_000286.2(PEX12):c.987_988delGT (p.Phe330Serfs) rs764657253
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804

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