List of variants in gene POGZ reported as benign by Ambry Genetics

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015100.4(POGZ):c.4104T>G (p.Thr1368=)	rs1571294	0.10973
NM_015100.4(POGZ):c.4095G>T (p.Glu1365Asp)	rs35198305	0.01770
NM_015100.4(POGZ):c.930A>G (p.Thr310=)	rs115103475	0.01595
NM_015100.4(POGZ):c.357A>G (p.Thr119=)	rs145173739	0.00547
NM_015100.4(POGZ):c.860-5C>T	rs144435581	0.00205
NM_015100.4(POGZ):c.2669C>T (p.Ala890Val)	rs141251585	0.00071
NM_015100.4(POGZ):c.2451C>T (p.Cys817=)	rs778929923	0.00008
NM_015100.4(POGZ):c.1014G>A (p.Val338=)
NM_015100.4(POGZ):c.162C>T (p.Pro54=)
NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg)	rs145570114
NM_015100.4(POGZ):c.3598A>G (p.Ser1200Gly)
NM_015100.4(POGZ):c.3887T>C (p.Val1296Ala)

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.