List of variants reported as benign for Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome by Genome-Nilou Lab

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015100.4(POGZ):c.*30A>G	rs6667714	0.97557
NM_015100.4(POGZ):c.1779+39C>T	rs3748550	0.81897
NM_015100.4(POGZ):c.568+34T>C	rs6587577	0.79982
NM_015100.4(POGZ):c.4104T>G (p.Thr1368=)	rs1571294	0.10973
NM_015100.4(POGZ):c.2235-11T>C	rs2025899	0.09380
NM_015100.4(POGZ):c.4095G>T (p.Glu1365Asp)	rs35198305	0.01770
NM_015100.4(POGZ):c.930A>G (p.Thr310=)	rs115103475	0.01490
NM_015100.4(POGZ):c.860-5C>T	rs144435581	0.00190
NM_015100.4(POGZ):c.3024A>G (p.Arg1008=)	rs147095604	0.00037
NM_015100.4(POGZ):c.945T>C (p.Asn315=)	rs144073313	0.00034
NM_015100.4(POGZ):c.2235-10T>C	rs557225984	0.00025
NM_015100.4(POGZ):c.1524-10T>G	rs2274534
NM_015100.4(POGZ):c.1927-17del	rs3831142

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.