ClinVar Miner

List of variants in gene PEX12 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000286.3(PEX12):c.1044_1046ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.126+2T>A rs1555549902
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.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.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.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.684_687del (p.Ser229fs) rs62642859
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.730_733dup (p.Leu245fs) rs61752107
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.88_89del (p.Met30fs) rs1555549909
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) rs398123302
NM_000286.3(PEX12):c.961_964del (p.Gly321fs) rs749650201
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter) rs941358133

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.