ClinVar Miner

List of variants in gene PEX7 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000288.4(PEX7):c.130+1G>A rs267608253 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.294del (p.Ala100fs) rs1456007349
NM_000288.4(PEX7):c.357G>A (p.Trp119Ter) rs1554331461
NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer) rs1554333636
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153

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.