ClinVar Miner

List of variants in gene PEX1 reported as uncertain significance for Zellweger syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly)
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val) rs759491353
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467
NM_000466.3(PEX1):c.129+8G>A
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584
NM_000466.3(PEX1):c.1360-7C>T rs371890000
NM_000466.3(PEX1):c.144A>C (p.Glu48Asp)
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667
NM_000466.3(PEX1):c.1582A>G (p.Ile528Val)
NM_000466.3(PEX1):c.1587+5T>C rs199526105
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys)
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu)
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796
NM_000466.3(PEX1):c.1750A>G (p.Met584Val)
NM_000466.3(PEX1):c.1754C>T (p.Ser585Phe)
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys)
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631
NM_000466.3(PEX1):c.2071+3A>G
NM_000466.3(PEX1):c.2086A>G (p.Ile696Val)
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr)
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe)
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146
NM_000466.3(PEX1):c.2633_2635TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe)
NM_000466.3(PEX1):c.2784-7T>C rs777893142
NM_000466.3(PEX1):c.457A>G (p.Ile153Val)
NM_000466.3(PEX1):c.472+5G>A
NM_000466.3(PEX1):c.541A>C (p.Thr181Pro)
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro)
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_000466.3(PEX1):c.642A>C (p.Gln214His)
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912
NM_000466.3(PEX1):c.693C>T (p.Asn231=)
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380

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.