ClinVar Miner

List of variants in gene PEX13 reported as likely benign for Peroxisome biogenesis disorder 11A (Zellweger)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 153
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002618.4(PEX13):c.*944C>T rs148184159 0.00287
NM_002618.4(PEX13):c.*3012A>G rs144691386 0.00283
NM_002618.4(PEX13):c.*1724A>T rs137932203 0.00282
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348 0.00181
NM_002618.4(PEX13):c.893T>C (p.Met298Thr) rs138545154 0.00110
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr) rs150161574 0.00096
NM_002618.4(PEX13):c.913+15A>G rs185304365 0.00060
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys) rs143972531 0.00058
NM_002618.4(PEX13):c.226A>G (p.Ser76Gly) rs148296743 0.00039
NM_002618.4(PEX13):c.354T>C (p.Phe118=) rs143378216 0.00021
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810 0.00017
NM_002618.4(PEX13):c.984G>A (p.Ala328=) rs144086063 0.00015
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro) rs202077756 0.00009
NM_002618.4(PEX13):c.408T>A (p.Ile136=) rs145776973 0.00006
NM_002618.4(PEX13):c.750T>C (p.Ile250=) rs765039738 0.00006
NM_002618.4(PEX13):c.93-18A>C rs773183074 0.00005
NM_002618.4(PEX13):c.156C>T (p.Pro52=) rs562629125 0.00004
NM_002618.4(PEX13):c.270T>C (p.Tyr90=) rs946922546 0.00004
NM_002618.4(PEX13):c.294T>C (p.Tyr98=) rs762328486 0.00004
NM_002618.4(PEX13):c.126A>G (p.Arg42=) rs781477994 0.00003
NM_002618.4(PEX13):c.787+12G>A rs371678615 0.00003
NM_002618.4(PEX13):c.914-4T>A rs774237731 0.00003
NM_002618.4(PEX13):c.285T>G (p.Pro95=) rs749465384 0.00002
NM_002618.4(PEX13):c.378C>T (p.Ser126=) rs939500739 0.00002
NM_002618.4(PEX13):c.759A>G (p.Leu253=) rs752467884 0.00002
NM_002618.4(PEX13):c.914-16C>G rs987622142 0.00002
NM_002618.4(PEX13):c.914-5A>G rs374011561 0.00002
NM_002618.4(PEX13):c.1011A>G (p.Arg337=) rs779659827 0.00001
NM_002618.4(PEX13):c.1014A>G (p.Lys338=) rs748712609 0.00001
NM_002618.4(PEX13):c.1059A>G (p.Gln353=) rs892266553 0.00001
NM_002618.4(PEX13):c.1095G>A (p.Thr365=) rs754460647 0.00001
NM_002618.4(PEX13):c.1158G>A (p.Lys386=) rs371789976 0.00001
NM_002618.4(PEX13):c.276C>T (p.Gly92=) rs770117657 0.00001
NM_002618.4(PEX13):c.307C>T (p.Leu103=) rs767987790 0.00001
NM_002618.4(PEX13):c.381G>A (p.Arg127=) rs772627459 0.00001
NM_002618.4(PEX13):c.450C>T (p.Thr150=) rs1228236816 0.00001
NM_002618.4(PEX13):c.534G>T (p.Val178=) rs1162525817 0.00001
NM_002618.4(PEX13):c.762G>A (p.Leu254=) rs1282121871 0.00001
NM_002618.4(PEX13):c.777T>C (p.Asp259=) rs781350418 0.00001
NM_002618.4(PEX13):c.788-8G>A rs1680695333 0.00001
NM_002618.4(PEX13):c.831C>T (p.Ala277=) rs751807871 0.00001
NM_002618.4(PEX13):c.914-8T>G rs769302153 0.00001
NM_002618.4(PEX13):c.999T>C (p.Ile333=) rs750110664 0.00001
NM_002618.4(PEX13):c.1071C>T (p.Asn357=)
NM_002618.4(PEX13):c.1077A>G (p.Thr359=)
NM_002618.4(PEX13):c.1080A>G (p.Leu360=) rs2104814664
NM_002618.4(PEX13):c.1083T>G (p.Thr361=) rs2104814667
NM_002618.4(PEX13):c.1104T>C (p.Asp368=)
NM_002618.4(PEX13):c.1131T>C (p.Phe377=)
NM_002618.4(PEX13):c.1140T>G (p.Val380=)
NM_002618.4(PEX13):c.1149A>G (p.Glu383=) rs2104814749
NM_002618.4(PEX13):c.1188A>G (p.Lys396=)
NM_002618.4(PEX13):c.1191T>C (p.Asp397=)
NM_002618.4(PEX13):c.1203A>G (p.Gln401=) rs2104814800
NM_002618.4(PEX13):c.123A>G (p.Thr41=)
NM_002618.4(PEX13):c.124A>C (p.Arg42=)
NM_002618.4(PEX13):c.132A>G (p.Gly44=)
NM_002618.4(PEX13):c.135A>G (p.Gln45=)
NM_002618.4(PEX13):c.138A>G (p.Pro46=)
NM_002618.4(PEX13):c.147C>A (p.Thr49=)
NM_002618.4(PEX13):c.147C>T (p.Thr49=)
NM_002618.4(PEX13):c.174G>A (p.Arg58=)
NM_002618.4(PEX13):c.204G>C (p.Val68=)
NM_002618.4(PEX13):c.204G>T (p.Val68=)
NM_002618.4(PEX13):c.219T>C (p.Pro73=)
NM_002618.4(PEX13):c.222T>C (p.Ala74=)
NM_002618.4(PEX13):c.297A>G (p.Gly99=)
NM_002618.4(PEX13):c.300T>C (p.Tyr100=) rs2104803312
NM_002618.4(PEX13):c.309G>T (p.Leu103=)
NM_002618.4(PEX13):c.318C>T (p.Asn106=) rs2104803339
NM_002618.4(PEX13):c.321C>A (p.Arg107=) rs1245330810
NM_002618.4(PEX13):c.342A>G (p.Pro114=)
NM_002618.4(PEX13):c.345C>T (p.Pro115=) rs2104803376
NM_002618.4(PEX13):c.348T>C (p.Ser116=)
NM_002618.4(PEX13):c.366T>C (p.Ala122=) rs2104803394
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_002618.4(PEX13):c.387A>C (p.Ala129=)
NM_002618.4(PEX13):c.417A>G (p.Ala139=) rs886056197
NM_002618.4(PEX13):c.423C>G (p.Ala141=)
NM_002618.4(PEX13):c.423C>T (p.Ala141=)
NM_002618.4(PEX13):c.426T>A (p.Ser142=)
NM_002618.4(PEX13):c.447T>C (p.Ala149=)
NM_002618.4(PEX13):c.465T>C (p.Tyr155=)
NM_002618.4(PEX13):c.468C>T (p.Asn156=)
NM_002618.4(PEX13):c.484T>C (p.Leu162=)
NM_002618.4(PEX13):c.504T>C (p.Phe168=)
NM_002618.4(PEX13):c.507C>A (p.Ser169=)
NM_002618.4(PEX13):c.507C>T (p.Ser169=)
NM_002618.4(PEX13):c.510A>G (p.Arg170=)
NM_002618.4(PEX13):c.511T>C (p.Leu171=)
NM_002618.4(PEX13):c.540A>C (p.Ser180=)
NM_002618.4(PEX13):c.549A>G (p.Ala183=)
NM_002618.4(PEX13):c.558G>A (p.Arg186=)
NM_002618.4(PEX13):c.561T>C (p.Thr187=) rs1442600682
NM_002618.4(PEX13):c.564A>C (p.Ile188=)
NM_002618.4(PEX13):c.567G>A (p.Arg189=)
NM_002618.4(PEX13):c.579A>G (p.Arg193=) rs2104803563
NM_002618.4(PEX13):c.580C>A (p.Arg194=) rs774157693
NM_002618.4(PEX13):c.585A>G (p.Leu195=)
NM_002618.4(PEX13):c.591G>A (p.Arg197=) rs2104803591
NM_002618.4(PEX13):c.612C>T (p.Gly204=) rs2104803616
NM_002618.4(PEX13):c.624A>G (p.Glu208=) rs2104803624
NM_002618.4(PEX13):c.648A>G (p.Gly216=)
NM_002618.4(PEX13):c.657A>G (p.Ala219=)
NM_002618.4(PEX13):c.660C>T (p.Cys220=)
NM_002618.4(PEX13):c.669T>C (p.Ala223=)
NM_002618.4(PEX13):c.672G>A (p.Glu224=)
NM_002618.4(PEX13):c.684T>G (p.Ala228=) rs2104803682
NM_002618.4(PEX13):c.705A>G (p.Pro235=)
NM_002618.4(PEX13):c.705A>T (p.Pro235=)
NM_002618.4(PEX13):c.714G>A (p.Leu238=)
NM_002618.4(PEX13):c.729C>T (p.Ile243=)
NM_002618.4(PEX13):c.735T>A (p.Gly245=)
NM_002618.4(PEX13):c.738T>C (p.Gly246=)
NM_002618.4(PEX13):c.744C>T (p.Tyr248=)
NM_002618.4(PEX13):c.759A>T (p.Leu253=)
NM_002618.4(PEX13):c.787+10C>T
NM_002618.4(PEX13):c.787+12G>T
NM_002618.4(PEX13):c.787+16G>A
NM_002618.4(PEX13):c.788-5T>C rs561624639
NM_002618.4(PEX13):c.788-7C>T
NM_002618.4(PEX13):c.788-9G>C
NM_002618.4(PEX13):c.807T>C (p.Ser269=)
NM_002618.4(PEX13):c.828T>C (p.Val276=)
NM_002618.4(PEX13):c.832A>C (p.Arg278=)
NM_002618.4(PEX13):c.855C>T (p.Ala285=) rs1438696242
NM_002618.4(PEX13):c.903A>G (p.Leu301=)
NM_002618.4(PEX13):c.913+11A>G
NM_002618.4(PEX13):c.913+13G>A
NM_002618.4(PEX13):c.913+8A>G
NM_002618.4(PEX13):c.914-10T>C
NM_002618.4(PEX13):c.914-12T>C rs1015226405
NM_002618.4(PEX13):c.914-16_914-15insA
NM_002618.4(PEX13):c.914-17T>G
NM_002618.4(PEX13):c.914-18G>A
NM_002618.4(PEX13):c.914-19T>G
NM_002618.4(PEX13):c.914-6C>T rs2104814454
NM_002618.4(PEX13):c.914-7C>T
NM_002618.4(PEX13):c.915A>G (p.Glu305=)
NM_002618.4(PEX13):c.921A>G (p.Gln307=)
NM_002618.4(PEX13):c.93-11T>C
NM_002618.4(PEX13):c.93-12T>A
NM_002618.4(PEX13):c.93-3dup rs2104803114
NM_002618.4(PEX13):c.93-8G>C
NM_002618.4(PEX13):c.942T>A (p.Leu314=)
NM_002618.4(PEX13):c.943C>T (p.Leu315=)
NM_002618.4(PEX13):c.957T>C (p.Asp319=)
NM_002618.4(PEX13):c.963A>G (p.Gln321=)
NM_002618.4(PEX13):c.969A>G (p.Thr323=)
NM_002618.4(PEX13):c.96T>A (p.Ser32=)
NM_002618.4(PEX13):c.981T>C (p.Pro327=)
NM_002618.4(PEX13):c.984G>T (p.Ala328=) rs144086063
NM_002618.4(PEX13):c.990T>C (p.Tyr330=)

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.