ClinVar Miner

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

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ClinVar version:
Total variants: 180
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HGVS dbSNP gnomAD frequency
NM_002618.4(PEX13):c.-6G>C rs147461642 0.00345
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.18A>G (p.Pro6=) rs769300208 0.00020
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.24C>A (p.Pro8=) rs774943691 0.00009
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro) rs202077756 0.00009
NM_002618.4(PEX13):c.9C>T (p.Ser3=) rs745465894 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.92+20G>C rs1303497941 0.00004
NM_002618.4(PEX13):c.126A>G (p.Arg42=) rs781477994 0.00003
NM_002618.4(PEX13):c.54G>A (p.Pro18=) rs1002699754 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.66G>A (p.Pro22=) rs1264694420 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.12G>A (p.Gln4=)
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.18A>T (p.Pro6=)
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.27C>G (p.Pro9=)
NM_002618.4(PEX13):c.27C>T (p.Pro9=)
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.33C>G (p.Pro11=) rs1680108410
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.42C>A (p.Thr14=)
NM_002618.4(PEX13):c.447T>C (p.Ala149=)
NM_002618.4(PEX13):c.45C>G (p.Arg15=) rs1405144717
NM_002618.4(PEX13):c.45C>T (p.Arg15=) rs1405144717
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.54G>T (p.Pro18=) rs1002699754
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.60C>T (p.Ala20=)
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.69A>C (p.Gly23=)
NM_002618.4(PEX13):c.69A>T (p.Gly23=)
NM_002618.4(PEX13):c.6G>C (p.Ala2=)
NM_002618.4(PEX13):c.6G>T (p.Ala2=)
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.84C>T (p.Pro28=)
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.92+10G>A rs1387361776
NM_002618.4(PEX13):c.92+16T>G
NM_002618.4(PEX13):c.92+18C>A
NM_002618.4(PEX13):c.92+7G>T
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=)
NM_002618.4(PEX13):c.9C>G (p.Ser3=) rs745465894

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