List of variants in gene SPRED1 reported as pathogenic by Genome Diagnostics Laboratory, The Hospital for Sick Children

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_152594.3(SPRED1):c.1044_1045del (p.Arg349fs)	rs1366401484	0.00001
NM_152594.3(SPRED1):c.304dup (p.Thr102fs)	rs1555391053	0.00001
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter)	rs727504170
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)	rs121434312
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)	rs750777752
NM_152594.3(SPRED1):c.796_797del (p.Met266fs)	rs864622410

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.