ClinVar Miner

List of variants in gene PEX1 reported as pathogenic for Heimler syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.2071+1G>T rs267608177 0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1208del (p.Asn403fs) rs1376037318
NM_000466.3(PEX1):c.1240-1551A>G
NM_000466.3(PEX1):c.1435_1439dup (p.Leu480fs)
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs) rs786204743
NM_000466.3(PEX1):c.1508_1509dup (p.Val504Ter)
NM_000466.3(PEX1):c.1670+1G>T rs1057517490
NM_000466.3(PEX1):c.1671_1672del
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1727dup (p.Arg577fs) rs1585238595
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1792del (p.Thr598fs) rs886037783
NM_000466.3(PEX1):c.1891del (p.Ala631fs) rs2075434480
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.1927dup (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.2039del (p.Pro680fs) rs1269903353
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) rs267608178
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2464_2477dup (p.Leu826fs) rs1463323645
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.382C>T (p.Gln128Ter)
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.911_912del (p.Ser304fs) rs786204638

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.