ClinVar Miner

List of variants reported as pathogenic for Zellweger syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219
NM_000318.3(PEX2):c.279_283del (p.Arg94fs) rs61752122
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) rs61752123
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) rs398123408
NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs)
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)
NM_000466.3(PEX1):c.249del (p.Lys83fs)
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer)
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2926+1del
NM_000466.3(PEX1):c.3003dup (p.Cys1002fs)
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3451_3452CT[2] (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142
NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs)
NM_002617.3(PEX10):c.4del (p.Ala2fs) rs62636524
NM_153818.1(PEX10):c.600+1G>A rs267608183
NM_153818.1(PEX10):c.764dup (p.Leu256fs) rs61750435
NM_153818.1(PEX10):c.874_875del (p.Leu292fs) rs61752093

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.