ClinVar Miner

List of variants reported as likely benign for peroxisome biogenesis disorder due to PEX14 defect

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022 0.01070
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482 0.00899
NM_004565.3(PEX14):c.873C>T (p.His291=) rs115117459 0.00516
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) rs12061667 0.00324
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_004565.3(PEX14):c.602A>G (p.Asn201Ser) rs142285791 0.00083
NM_004565.3(PEX14):c.29C>G (p.Pro10Arg) rs12068754 0.00080
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488 0.00070
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_004565.3(PEX14):c.567C>T (p.His189=) rs147210317 0.00033
NM_004565.3(PEX14):c.1098G>T (p.Arg366=) rs139610784 0.00029
NM_004565.3(PEX14):c.360A>G (p.Ala120=) rs148479162 0.00021
NM_004565.3(PEX14):c.400C>G (p.Leu134Val) rs140476337 0.00021
NM_004565.3(PEX14):c.222C>T (p.Ala74=) rs147043673 0.00019
NM_004565.3(PEX14):c.169+7G>C rs376989411 0.00018
NM_004565.3(PEX14):c.303C>T (p.Pro101=) rs199552789 0.00014
NM_004565.3(PEX14):c.1101C>T (p.Pro367=) rs146053705 0.00013
NM_004565.3(PEX14):c.381C>T (p.Tyr127=) rs372630614 0.00013
NM_004565.3(PEX14):c.693A>G (p.Pro231=) rs145899844 0.00011
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu) rs79954820 0.00011
NM_004565.3(PEX14):c.488-4G>A rs376837541 0.00010
NM_004565.3(PEX14):c.298+11C>T rs368265465 0.00009
NM_004565.3(PEX14):c.766G>A (p.Val256Met) rs143378690 0.00009
NM_004565.3(PEX14):c.26A>T (p.Gln9Leu) rs201979629 0.00006
NM_004565.3(PEX14):c.298+12G>A rs572650599 0.00006
NM_004565.3(PEX14):c.36+10G>A rs780024607 0.00006
NM_004565.3(PEX14):c.84+20G>T rs377686703 0.00006
NM_004565.3(PEX14):c.1074C>T (p.Asn358=) rs765001984 0.00005
NM_004565.3(PEX14):c.299-6C>T rs764273994 0.00005
NM_004565.3(PEX14):c.299-9C>T rs531729105 0.00005
NM_004565.3(PEX14):c.36+20C>T rs376946441 0.00005
NM_004565.3(PEX14):c.465G>A (p.Leu155=) rs371111233 0.00005
NM_004565.3(PEX14):c.699A>C (p.Pro233=) rs758943034 0.00005
NM_004565.3(PEX14):c.819G>A (p.Ser273=) rs139518305 0.00005
NM_004565.3(PEX14):c.297C>T (p.Tyr99=) rs371473184 0.00004
NM_004565.3(PEX14):c.330C>T (p.Gly110=) rs772527603 0.00004
NM_004565.3(PEX14):c.399C>G (p.Pro133=) rs147609213 0.00004
NM_004565.3(PEX14):c.762G>A (p.Ala254=) rs572037966 0.00004
NM_004565.3(PEX14):c.882C>G (p.Gly294=) rs928631810 0.00004
NM_004565.3(PEX14):c.93G>A (p.Thr31=) rs139797106 0.00004
NM_004565.3(PEX14):c.975C>T (p.Asp325=) rs754716817 0.00004
NM_004565.3(PEX14):c.996T>C (p.Asp332=) rs201978719 0.00004
NM_004565.3(PEX14):c.488-5C>T rs767128417 0.00003
NM_004565.3(PEX14):c.744G>A (p.Pro248=) rs145103775 0.00003
NM_004565.3(PEX14):c.807C>T (p.Asn269=) rs757658916 0.00003
NM_004565.3(PEX14):c.855C>G (p.Gly285=) rs201107513 0.00003
NM_004565.3(PEX14):c.945C>T (p.Gly315=) rs560264914 0.00003
NM_004565.3(PEX14):c.1128G>C (p.Arg376=) rs772300180 0.00002
NM_004565.3(PEX14):c.170-4C>A rs764907398 0.00002
NM_004565.3(PEX14):c.210G>A (p.Ser70=) rs755185539 0.00002
NM_004565.3(PEX14):c.327C>T (p.Tyr109=) rs367754543 0.00002
NM_004565.3(PEX14):c.36+16C>T rs749238226 0.00002
NM_004565.3(PEX14):c.585+18A>C rs532665793 0.00002
NM_004565.3(PEX14):c.786C>T (p.Ser262=) rs1286463670 0.00002
NM_004565.3(PEX14):c.834G>A (p.Lys278=) rs771862572 0.00002
NM_004565.3(PEX14):c.84+12A>G rs1351156937 0.00002
NM_004565.3(PEX14):c.849C>T (p.Pro283=) rs752909373 0.00002
NM_004565.3(PEX14):c.85-8C>T rs778964302 0.00002
NM_004565.3(PEX14):c.897C>T (p.Gly299=) rs747580093 0.00002
NM_004565.3(PEX14):c.9C>T (p.Ser3=) rs1476050374 0.00002
NM_004565.3(PEX14):c.1056C>T (p.Gly352=) rs372035480 0.00001
NM_004565.3(PEX14):c.12G>A (p.Ser4=) rs1372422981 0.00001
NM_004565.3(PEX14):c.234G>A (p.Ser78=) rs778634623 0.00001
NM_004565.3(PEX14):c.294A>G (p.Pro98=) rs1459322335 0.00001
NM_004565.3(PEX14):c.30G>C (p.Pro10=) rs1307415913 0.00001
NM_004565.3(PEX14):c.37-14A>G rs757529825 0.00001
NM_004565.3(PEX14):c.37-18T>C rs1219479331 0.00001
NM_004565.3(PEX14):c.384+12C>T rs1031904195 0.00001
NM_004565.3(PEX14):c.384+9C>T rs780394337 0.00001
NM_004565.3(PEX14):c.385-19C>T rs1355559186 0.00001
NM_004565.3(PEX14):c.411C>T (p.Gly137=) rs775297789 0.00001
NM_004565.3(PEX14):c.450C>T (p.Ala150=) rs765794942 0.00001
NM_004565.3(PEX14):c.487+11A>T rs745344543 0.00001
NM_004565.3(PEX14):c.488-22_488-20del rs1193800404 0.00001
NM_004565.3(PEX14):c.507C>T (p.Thr169=) rs374000675 0.00001
NM_004565.3(PEX14):c.510C>T (p.Leu170=) rs1319304159 0.00001
NM_004565.3(PEX14):c.531G>C (p.Leu177=) rs1641685652 0.00001
NM_004565.3(PEX14):c.576C>T (p.Ala192=) rs377059083 0.00001
NM_004565.3(PEX14):c.677+11G>A rs1472595799 0.00001
NM_004565.3(PEX14):c.708G>A (p.Pro236=) rs776806278 0.00001
NM_004565.3(PEX14):c.816G>A (p.Thr272=) rs572028093 0.00001
NM_004565.3(PEX14):c.900G>A (p.Glu300=) rs772095912 0.00001
NM_004565.3(PEX14):c.912C>T (p.Asp304=) rs1202283239 0.00001
NM_004565.3(PEX14):c.981G>A (p.Glu327=) rs41274486 0.00001
NM_004565.3(PEX14):c.1008T>C (p.His336=)
NM_004565.3(PEX14):c.1013_1014inv (p.Asp338Gly)
NM_004565.3(PEX14):c.1020G>A (p.Glu340=)
NM_004565.3(PEX14):c.1032G>A (p.Gly344=) rs11539794
NM_004565.3(PEX14):c.1035G>C (p.Val345=)
NM_004565.3(PEX14):c.1047C>T (p.Asp349=) rs1285512085
NM_004565.3(PEX14):c.1068G>A (p.Gln356=)
NM_004565.3(PEX14):c.1083G>A (p.Val361=)
NM_004565.3(PEX14):c.1089G>A (p.Lys363=)
NM_004565.3(PEX14):c.108A>G (p.Leu36=) rs2124482116
NM_004565.3(PEX14):c.1131C>T (p.Asp377=) rs2124651209
NM_004565.3(PEX14):c.129G>A (p.Gln43=)
NM_004565.3(PEX14):c.150A>G (p.Arg50=)
NM_004565.3(PEX14):c.15G>A (p.Glu5=)
NM_004565.3(PEX14):c.169+12dup
NM_004565.3(PEX14):c.169+17G>A rs758302680
NM_004565.3(PEX14):c.252A>T (p.Thr84=)
NM_004565.3(PEX14):c.298+10C>T rs2124602884
NM_004565.3(PEX14):c.298+11C>G
NM_004565.3(PEX14):c.298+13C>T
NM_004565.3(PEX14):c.298+15C>G rs2124602904
NM_004565.3(PEX14):c.298+17A>G rs1312717612
NM_004565.3(PEX14):c.298+7C>T rs1409481387
NM_004565.3(PEX14):c.299-11C>T
NM_004565.3(PEX14):c.299-19C>T rs2124632871
NM_004565.3(PEX14):c.299-20C>T
NM_004565.3(PEX14):c.299-7C>T
NM_004565.3(PEX14):c.299-8G>A rs112851814
NM_004565.3(PEX14):c.306A>G (p.Ala102=)
NM_004565.3(PEX14):c.33C>T (p.Ser11=) rs1276166187
NM_004565.3(PEX14):c.345C>A (p.Ile115=)
NM_004565.3(PEX14):c.36+14G>A
NM_004565.3(PEX14):c.36+15A>G
NM_004565.3(PEX14):c.36+18G>A
NM_004565.3(PEX14):c.36+18del
NM_004565.3(PEX14):c.36+9A>G
NM_004565.3(PEX14):c.37-15C>A
NM_004565.3(PEX14):c.37-16C>T
NM_004565.3(PEX14):c.37-20del
NM_004565.3(PEX14):c.37-9T>C
NM_004565.3(PEX14):c.384+13_384+14delinsAT rs2124633116
NM_004565.3(PEX14):c.384+15G>A
NM_004565.3(PEX14):c.384+16C>A rs201704437
NM_004565.3(PEX14):c.384+16C>G rs201704437
NM_004565.3(PEX14):c.384+16C>T rs201704437
NM_004565.3(PEX14):c.384+18G>T rs747804879
NM_004565.3(PEX14):c.384+20T>G
NM_004565.3(PEX14):c.384+7C>T
NM_004565.3(PEX14):c.385-11G>A
NM_004565.3(PEX14):c.385-11G>C rs377127119
NM_004565.3(PEX14):c.385-12C>T
NM_004565.3(PEX14):c.385-18C>A rs2124639218
NM_004565.3(PEX14):c.385-18C>T
NM_004565.3(PEX14):c.385-19C>A rs1355559186
NM_004565.3(PEX14):c.385-20C>A
NM_004565.3(PEX14):c.385-4G>A rs777256619
NM_004565.3(PEX14):c.385-8del rs2124639250
NM_004565.3(PEX14):c.385-9T>A rs758096686
NM_004565.3(PEX14):c.391C>T (p.Leu131=)
NM_004565.3(PEX14):c.417A>G (p.Arg139=) rs1641641102
NM_004565.3(PEX14):c.429G>A (p.Lys143=) rs2124639380
NM_004565.3(PEX14):c.447G>A (p.Glu149=)
NM_004565.3(PEX14):c.450C>G (p.Ala150=)
NM_004565.3(PEX14):c.474C>T (p.Ser158=) rs145867351
NM_004565.3(PEX14):c.477G>A (p.Val159=)
NM_004565.3(PEX14):c.480C>T (p.Ala160=)
NM_004565.3(PEX14):c.487+12T>C
NM_004565.3(PEX14):c.487+16T>C rs1187391592
NM_004565.3(PEX14):c.487+17C>G rs756085369
NM_004565.3(PEX14):c.487+17C>T
NM_004565.3(PEX14):c.487+9T>G rs1641643394
NM_004565.3(PEX14):c.488-15G>A
NM_004565.3(PEX14):c.48T>C (p.Thr16=) rs779545665
NM_004565.3(PEX14):c.48T>G (p.Thr16=) rs779545665
NM_004565.3(PEX14):c.510C>G (p.Leu170=) rs1319304159
NM_004565.3(PEX14):c.525G>A (p.Glu175=)
NM_004565.3(PEX14):c.543G>A (p.Gln181=) rs1557438039
NM_004565.3(PEX14):c.585+10T>C
NM_004565.3(PEX14):c.585+11C>T
NM_004565.3(PEX14):c.585+11_585+12del
NM_004565.3(PEX14):c.585+23_585+32dup rs566024461
NM_004565.3(PEX14):c.586-15G>A
NM_004565.3(PEX14):c.586-18C>T
NM_004565.3(PEX14):c.591C>T (p.Thr197=) rs2124645848
NM_004565.3(PEX14):c.600C>T (p.Thr200=) rs1375932150
NM_004565.3(PEX14):c.610C>T (p.Leu204=)
NM_004565.3(PEX14):c.630C>T (p.Asn210=)
NM_004565.3(PEX14):c.639G>A (p.Lys213=)
NM_004565.3(PEX14):c.63T>C (p.Asn21=)
NM_004565.3(PEX14):c.642C>G (p.Ser214=)
NM_004565.3(PEX14):c.657G>A (p.Leu219=) rs1480817199
NM_004565.3(PEX14):c.670T>C (p.Leu224=)
NM_004565.3(PEX14):c.677+13A>G
NM_004565.3(PEX14):c.678-10C>T rs754096559
NM_004565.3(PEX14):c.678-12T>C
NM_004565.3(PEX14):c.678-13C>A rs1009879912
NM_004565.3(PEX14):c.678-18C>G
NM_004565.3(PEX14):c.678-6C>T
NM_004565.3(PEX14):c.699A>G (p.Pro233=)
NM_004565.3(PEX14):c.738G>A (p.Lys246=) rs2124649880
NM_004565.3(PEX14):c.753C>T (p.Ser251=)
NM_004565.3(PEX14):c.765C>A (p.Ala255=) rs755259929
NM_004565.3(PEX14):c.765C>T (p.Ala255=) rs755259929
NM_004565.3(PEX14):c.777C>T (p.His259=) rs1641852488
NM_004565.3(PEX14):c.813C>A (p.Ser271=)
NM_004565.3(PEX14):c.81G>A (p.Pro27=) rs1557810674
NM_004565.3(PEX14):c.81G>T (p.Pro27=)
NM_004565.3(PEX14):c.84+11A>G
NM_004565.3(PEX14):c.84+9C>T
NM_004565.3(PEX14):c.843C>T (p.His281=)
NM_004565.3(PEX14):c.849C>G (p.Pro283=) rs752909373
NM_004565.3(PEX14):c.85-11T>A
NM_004565.3(PEX14):c.85-5A>G
NM_004565.3(PEX14):c.85-6C>T
NM_004565.3(PEX14):c.861G>A (p.Thr287=) rs371329619
NM_004565.3(PEX14):c.861G>C (p.Thr287=) rs371329619
NM_004565.3(PEX14):c.861G>T (p.Thr287=) rs371329619
NM_004565.3(PEX14):c.87T>C (p.Ile29=)
NM_004565.3(PEX14):c.882C>A (p.Gly294=)
NM_004565.3(PEX14):c.882C>T (p.Gly294=)
NM_004565.3(PEX14):c.918G>A (p.Lys306=)
NM_004565.3(PEX14):c.957G>A (p.Lys319=)
NM_004565.3(PEX14):c.969G>A (p.Lys323=)
NM_004565.3(PEX14):c.984T>C (p.Asp328=) rs2124650721
NM_004565.3(PEX14):c.99G>C (p.Val33=) rs1239507203

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