List of variants reported as not provided for Intellectual disability, autosomal dominant 5

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006772.3(SYNGAP1):c.1022_1030delinsTA (p.Gly341fs)	rs2537390928
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs)	rs587780470
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter)	rs1060503386
NM_006772.3(SYNGAP1):c.190-2A>G	rs1776941586
NM_006772.3(SYNGAP1):c.2539C>T (p.Gln847Ter)	rs1554122200
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs)	rs1131691979
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)	rs869312955
NM_006772.3(SYNGAP1):c.457del (p.Thr153fs)	rs2537351923
NM_006772.3(SYNGAP1):c.654_655del (p.Phe218fs)	rs1777299176

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.