ClinVar Miner

List of variants in gene combination ACP5, ZNF627 reported as pathogenic for Spondyloenchondrodysplasia with immune dysregulation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_001111035.2(ACP5):c.266C>T (p.Thr89Ile) rs387906668
NM_001111035.2(ACP5):c.325G>A (p.Gly109Arg) rs781050795
NM_001111035.2(ACP5):c.602T>C (p.Leu201Pro) rs387906672
NM_001111035.2(ACP5):c.643G>C (p.Gly215Arg) rs781199182
NM_001111035.2(ACP5):c.667C>T (p.Gln223Ter) rs387906669
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864

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.