List of variants in gene PEX14 reported as likely benign for Zellweger spectrum disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 191

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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.78G>A (p.Glu26=)	rs144664869	0.00047
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.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.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.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.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.48T>C (p.Thr16=)	rs779545665
NM_004565.3(PEX14):c.48T>G (p.Thr16=)	rs779545665
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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