List of variants in gene PEX12 reported as likely benign for brain disorder

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: 161

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HGVS	dbSNP	gnomAD frequency
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)	rs147530802	0.00493
NM_000286.3(PEX12):c.*509T>G	rs192370696	0.00415
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)	rs138731505	0.00180
NM_000286.3(PEX12):c.452G>A (p.Arg151His)	rs150186509	0.00113
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)	rs139417458	0.00101
NM_000286.3(PEX12):c.84T>C (p.Ser28=)	rs200641558	0.00020
NM_000286.3(PEX12):c.127-19T>C	rs1008239545	0.00012
NM_000286.3(PEX12):c.1002G>A (p.Arg334=)	rs200283718	0.00011
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp)	rs193253559	0.00007
NM_000286.3(PEX12):c.834C>T (p.Ala278=)	rs755457602	0.00006
NM_000286.3(PEX12):c.156T>C (p.Tyr52=)	rs373145272	0.00005
NM_000286.3(PEX12):c.597G>A (p.Gln199=)	rs756193716	0.00005
NM_000286.3(PEX12):c.127-12A>G	rs770008536	0.00004
NM_000286.3(PEX12):c.189T>C (p.Phe63=)	rs369640430	0.00004
NM_000286.3(PEX12):c.409C>T (p.Leu137=)	rs17852912	0.00004
NM_000286.3(PEX12):c.420G>A (p.Glu140=)	rs745813377	0.00004
NM_000286.3(PEX12):c.447T>C (p.Ser149=)	rs375119247	0.00003
NM_000286.3(PEX12):c.543C>T (p.Tyr181=)	rs192653658	0.00003
NM_000286.3(PEX12):c.681-15C>G	rs371906447	0.00003
NM_000286.3(PEX12):c.570A>G (p.Ser190=)	rs758132842	0.00002
NM_000286.3(PEX12):c.915A>T (p.Pro305=)	rs748595918	0.00002
NM_000286.3(PEX12):c.1014T>G (p.Ala338=)	rs1047155507	0.00001
NM_000286.3(PEX12):c.1062C>G (p.Leu354=)	rs981025397	0.00001
NM_000286.3(PEX12):c.1068C>T (p.Ser356=)	rs779530147	0.00001
NM_000286.3(PEX12):c.114G>A (p.Gln38=)	rs949083612	0.00001
NM_000286.3(PEX12):c.126+8A>G	rs1268722683	0.00001
NM_000286.3(PEX12):c.216A>G (p.Gln72=)	rs763213930	0.00001
NM_000286.3(PEX12):c.261C>T (p.Tyr87=)	rs145784404	0.00001
NM_000286.3(PEX12):c.276T>C (p.Ile92=)	rs1439488824	0.00001
NM_000286.3(PEX12):c.285G>A (p.Gly95=)	rs1555549869	0.00001
NM_000286.3(PEX12):c.307T>C (p.Leu103=)	rs765607255	0.00001
NM_000286.3(PEX12):c.345A>G (p.Lys115=)	rs1293631647	0.00001
NM_000286.3(PEX12):c.388C>T (p.Leu130=)	rs773967871	0.00001
NM_000286.3(PEX12):c.450C>A (p.Ser150=)	rs986848130	0.00001
NM_000286.3(PEX12):c.567C>T (p.His189=)	rs777653456	0.00001
NM_000286.3(PEX12):c.576G>C (p.Leu192=)	rs963184861	0.00001
NM_000286.3(PEX12):c.666G>A (p.Gln222=)	rs759295117	0.00001
NM_000286.3(PEX12):c.708G>A (p.Leu236=)	rs1404693909	0.00001
NM_000286.3(PEX12):c.75A>G (p.Ala25=)	rs765205355	0.00001
NM_000286.3(PEX12):c.826T>C (p.Leu276=)	rs1465512430	0.00001
NM_000286.3(PEX12):c.550_552del	rs147182821
NM_000286.3(PEX12):c.569_570del	rs3031851
NM_000286.3(PEX12):c.1008C>T (p.His336=)
NM_000286.3(PEX12):c.1020C>T (p.Pro340=)
NM_000286.3(PEX12):c.1032T>C (p.Tyr344=)	rs1352783754
NM_000286.3(PEX12):c.1038A>G (p.Thr346=)
NM_000286.3(PEX12):c.1051C>T (p.Leu351=)
NM_000286.3(PEX12):c.105C>T (p.Pro35=)
NM_000286.3(PEX12):c.1065C>T (p.Tyr355=)
NM_000286.3(PEX12):c.126+17T>C
NM_000286.3(PEX12):c.126+18G>A
NM_000286.3(PEX12):c.127-11_127-2del	rs779094557
NM_000286.3(PEX12):c.127-20A>T
NM_000286.3(PEX12):c.127-6C>T
NM_000286.3(PEX12):c.127-7G>T
NM_000286.3(PEX12):c.138A>G (p.Glu46=)
NM_000286.3(PEX12):c.150C>A (p.Thr50=)	rs2142231241
NM_000286.3(PEX12):c.163T>C (p.Leu55=)
NM_000286.3(PEX12):c.186C>T (p.Ile62=)	rs1243883362
NM_000286.3(PEX12):c.18T>C (p.Ala6=)	rs2142231767
NM_000286.3(PEX12):c.192T>C (p.Thr64=)	rs2072793963
NM_000286.3(PEX12):c.193C>T (p.Leu65=)	rs923069079
NM_000286.3(PEX12):c.207G>T (p.Leu69=)
NM_000286.3(PEX12):c.210C>G (p.Leu70=)	rs2142231132
NM_000286.3(PEX12):c.223C>T (p.Leu75=)	rs2072793560
NM_000286.3(PEX12):c.225G>A (p.Leu75=)	rs1353291478
NM_000286.3(PEX12):c.255C>T (p.Asn85=)
NM_000286.3(PEX12):c.258T>C (p.Phe86=)
NM_000286.3(PEX12):c.271A>C (p.Arg91=)	rs2072792820
NM_000286.3(PEX12):c.273A>G (p.Arg91=)
NM_000286.3(PEX12):c.27A>G (p.Thr9=)
NM_000286.3(PEX12):c.288C>T (p.Asp96=)	rs2072792666
NM_000286.3(PEX12):c.291T>C (p.Thr97=)	rs756033737
NM_000286.3(PEX12):c.291T>G (p.Thr97=)
NM_000286.3(PEX12):c.30T>C (p.Ala10=)
NM_000286.3(PEX12):c.315T>C (p.Ser105=)	rs1597923365
NM_000286.3(PEX12):c.321T>C (p.Gly107=)
NM_000286.3(PEX12):c.324C>T (p.Leu108=)
NM_000286.3(PEX12):c.33T>C (p.Ala11=)
NM_000286.3(PEX12):c.348T>C (p.Ser116=)	rs2142230874
NM_000286.3(PEX12):c.351T>C (p.Ile117=)	rs2142230866
NM_000286.3(PEX12):c.360G>C (p.Leu120=)	rs772417571
NM_000286.3(PEX12):c.372C>G (p.Pro124=)
NM_000286.3(PEX12):c.375T>C (p.Tyr125=)	rs1451972501
NM_000286.3(PEX12):c.396G>A (p.Lys132=)	rs2142230806
NM_000286.3(PEX12):c.399G>T (p.Leu133=)
NM_000286.3(PEX12):c.408C>T (p.Ser136=)	rs1198655195
NM_000286.3(PEX12):c.414A>G (p.Arg138=)
NM_000286.3(PEX12):c.42C>G (p.Ala14=)	rs1397167479
NM_000286.3(PEX12):c.462A>G (p.Arg154=)
NM_000286.3(PEX12):c.474T>C (p.Ala158=)	rs2072790859
NM_000286.3(PEX12):c.483A>G (p.Ala161=)
NM_000286.3(PEX12):c.486C>T (p.Ala162=)
NM_000286.3(PEX12):c.492A>G (p.Pro164=)	rs2142230631
NM_000286.3(PEX12):c.495T>C (p.Phe165=)	rs2142230624
NM_000286.3(PEX12):c.498G>A (p.Val166=)
NM_000286.3(PEX12):c.51G>A (p.Gln17=)	rs561976188
NM_000286.3(PEX12):c.547C>T (p.Leu183=)	rs1230959859
NM_000286.3(PEX12):c.54A>G (p.Pro18=)
NM_000286.3(PEX12):c.564T>C (p.His188=)
NM_000286.3(PEX12):c.573A>G (p.Pro191=)
NM_000286.3(PEX12):c.574C>T (p.Leu192=)	rs2142230532
NM_000286.3(PEX12):c.582G>A (p.Arg194=)	rs2072790006
NM_000286.3(PEX12):c.583C>T (p.Leu195=)
NM_000286.3(PEX12):c.60C>T (p.Ile20=)	rs2142231683
NM_000286.3(PEX12):c.624A>T (p.Ile208=)
NM_000286.3(PEX12):c.633G>A (p.Leu211=)
NM_000286.3(PEX12):c.645A>G (p.Pro215=)	rs2142230422
NM_000286.3(PEX12):c.669A>G (p.Gln223=)	rs776230088
NM_000286.3(PEX12):c.66G>A (p.Glu22=)
NM_000286.3(PEX12):c.675C>T (p.Ala225=)
NM_000286.3(PEX12):c.680+10T>C	rs2142230380
NM_000286.3(PEX12):c.680+11A>G
NM_000286.3(PEX12):c.680+12A>T
NM_000286.3(PEX12):c.680+18C>T	rs2142230370
NM_000286.3(PEX12):c.680+19C>T
NM_000286.3(PEX12):c.680+8C>T
NM_000286.3(PEX12):c.681-15_681-13del
NM_000286.3(PEX12):c.681-21_681-19del	rs2142229430
NM_000286.3(PEX12):c.681-5A>C
NM_000286.3(PEX12):c.684T>C (p.Val228=)
NM_000286.3(PEX12):c.693G>A (p.Lys231=)
NM_000286.3(PEX12):c.699C>T (p.Asn233=)	rs2142229355
NM_000286.3(PEX12):c.69G>A (p.Val23=)
NM_000286.3(PEX12):c.6T>C (p.Ala2=)	rs2142231791
NM_000286.3(PEX12):c.705T>C (p.Ala235=)	rs2072784066
NM_000286.3(PEX12):c.706C>T (p.Leu236=)	rs2142229341
NM_000286.3(PEX12):c.714A>G (p.Lys238=)	rs2142229321
NM_000286.3(PEX12):c.723G>A (p.Gly241=)
NM_000286.3(PEX12):c.744T>C (p.Ser248=)
NM_000286.3(PEX12):c.765A>G (p.Val255=)	rs1438298273
NM_000286.3(PEX12):c.777G>A (p.Gln259=)	rs1317256470
NM_000286.3(PEX12):c.783T>C (p.Leu261=)	rs1192515379
NM_000286.3(PEX12):c.795C>T (p.Tyr265=)	rs1429126106
NM_000286.3(PEX12):c.804A>G (p.Glu268=)
NM_000286.3(PEX12):c.816C>G (p.Thr272=)
NM_000286.3(PEX12):c.819C>T (p.Ile273=)
NM_000286.3(PEX12):c.846A>G (p.Pro282=)
NM_000286.3(PEX12):c.849A>G (p.Pro283=)	rs1597922401
NM_000286.3(PEX12):c.861C>T (p.His287=)	rs2072782684
NM_000286.3(PEX12):c.864A>G (p.Leu288=)	rs2142229051
NM_000286.3(PEX12):c.885C>T (p.Pro295=)	rs2142229017
NM_000286.3(PEX12):c.888C>G (p.Leu296=)	rs2142229002
NM_000286.3(PEX12):c.888C>T (p.Leu296=)	rs2142229002
NM_000286.3(PEX12):c.906T>C (p.Thr302=)	rs371277434
NM_000286.3(PEX12):c.912C>T (p.Cys304=)	rs772194164
NM_000286.3(PEX12):c.915A>C (p.Pro305=)
NM_000286.3(PEX12):c.921T>C (p.Cys307=)
NM_000286.3(PEX12):c.936G>A (p.Val312=)	rs2142228901
NM_000286.3(PEX12):c.936G>T (p.Val312=)
NM_000286.3(PEX12):c.939T>C (p.Asn313=)
NM_000286.3(PEX12):c.93A>C (p.Thr31=)	rs141198490
NM_000286.3(PEX12):c.945T>A (p.Thr315=)
NM_000286.3(PEX12):c.957C>G (p.Thr319=)
NM_000286.3(PEX12):c.963C>G (p.Gly321=)
NM_000286.3(PEX12):c.966T>C (p.Tyr322=)
NM_000286.3(PEX12):c.969G>A (p.Val323=)	rs2142228848
NM_000286.3(PEX12):c.972T>C (p.Phe324=)
NM_000286.3(PEX12):c.978C>T (p.Tyr326=)
NM_000286.3(PEX12):c.987G>A (p.Val329=)
NM_000286.3(PEX12):c.9G>A (p.Glu3=)	rs2072797963

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