List of variants in gene SYNGAP1 reported as uncertain significance by Baylor 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_006772.3(SYNGAP1):c.1724G>A (p.Arg575His)	rs758932190	0.00004
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala)	rs749376396	0.00004
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln)	rs747376669	0.00002
NM_006772.3(SYNGAP1):c.127G>A (p.Gly43Ser)	rs1776862933
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys)	rs1202720979
NM_006772.3(SYNGAP1):c.2393C>T (p.Pro798Leu)	rs369972072
NM_006772.3(SYNGAP1):c.265C>G (p.Pro89Ala)	rs1776944236
NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg)	rs145472959
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe)	rs1761209473
NM_006772.3(SYNGAP1):c.3943T>C (p.Trp1315Arg)	rs1761347666
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser)	rs1761351808
NM_006772.3(SYNGAP1):c.745G>A (p.Ala249Thr)	rs1777307917

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.