ClinVar Miner

List of variants reported as likely pathogenic for Zellweger spectrum disorders

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000466.3(PEX1):c.130-1G>T rs1028247729 0.00002
NM_000287.4(PEX6):c.1233+1G>A rs763459576 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.2362+1G>A rs1443107232 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2071+1G>T rs267608177 0.00001
NM_000466.3(PEX1):c.2719-1G>A rs1791673946 0.00001
NM_000466.3(PEX1):c.2719-2A>G rs1554369234 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655 0.00001
NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro) rs1484321655 0.00001
NM_000466.3(PEX1):c.3208-1G>A rs1057517518 0.00001
NC_000007.13:g.(?_92146659)_(92148107_?)del
NC_000007.13:g.(?_92146662)_(92148110_?)del
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000466.3(PEX1):c.130-2A>T rs1585260993
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs) rs1792596054
NM_000466.3(PEX1):c.1359+1G>C rs2484692157
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1587+1G>T rs1057517469
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000466.3(PEX1):c.1670+1G>T rs1057517490
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1793_1803+1del rs2116180739
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1900+1G>A rs770447891
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.1901-1G>T rs1792111046
NM_000466.3(PEX1):c.1901-2A>G rs2484669193
NM_000466.3(PEX1):c.2071+2T>C rs1478905473
NM_000466.3(PEX1):c.2072-1G>A rs776263154
NM_000466.3(PEX1):c.2072-42_2085del rs1792018845
NM_000466.3(PEX1):c.2227-1G>C rs2484662083
NM_000466.3(PEX1):c.2417-1G>T rs1365047750
NM_000466.3(PEX1):c.2527G>A (p.Gly843Ser)
NM_000466.3(PEX1):c.2583+1G>T rs771586413
NM_000466.3(PEX1):c.2718+1G>A rs2484655081
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.273+2T>G rs1793074319
NM_000466.3(PEX1):c.2783+2T>C rs1585224312
NM_000466.3(PEX1):c.2784-1G>C rs2484638988
NM_000466.3(PEX1):c.2927-2A>G rs1057517531
NM_000466.3(PEX1):c.3031-1G>A rs2484629571
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3207+1G>C rs267608181
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer) rs1585214453
NM_000466.3(PEX1):c.3438+1G>A rs1554367284
NM_000466.3(PEX1):c.3439-2A>G rs2484613798
NM_000466.3(PEX1):c.357+1G>C rs866144313
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.3637-1G>A rs2484610293
NM_000466.3(PEX1):c.3637-3_3637-1del rs2116039871
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu) rs1473858573
NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter) rs267608194
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter) rs2525316064
NM_002857.4(PEX19):c.606del (p.Trp202fs) rs1461345139

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.