List of variants reported as benign for syndromic intellectual disability by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.1206+33T>G	rs7460625	0.73774
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)	rs1953337	0.19198
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)	rs36074608	0.15932
NM_152564.5(VPS13B):c.3667-7C>T	rs35543295	0.03607
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)	rs117995220	0.00559
NM_014795.4(ZEB2):c.489C>T (p.Ile163=)	rs138859323	0.00277
NM_007325.5(GRIA3):c.268+16757dup	rs778944548

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.