ClinVar Miner

List of variants in gene ASPM reported as likely pathogenic by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.6928C>T (p.Gln2310Ter) rs745997770
NM_018136.5(ASPM):c.7573_7574del (p.Glu2525fs) rs1060499757
NM_018136.5(ASPM):c.9084+5G>A rs1060499758
NM_018136.5(ASPM):c.972_973del (p.Asn324fs) rs765275884

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.