ClinVar Miner

List of variants in gene SYNGAP1 reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798 0.00417
NM_006772.3(SYNGAP1):c.102C>T (p.Tyr34=) rs147913000 0.00029
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe) rs753575634 0.00005
NM_006772.3(SYNGAP1):c.1888A>G (p.Ile630Val) rs192497085 0.00003
NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu) rs764259746 0.00001
NM_006772.3(SYNGAP1):c.1312G>A (p.Ala438Thr) rs765011916 0.00001
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[3] (p.1118SGG[3]) rs761763671
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.59C>T (p.Pro20Leu) rs1562867414
NM_006772.3(SYNGAP1):c.67+15del rs753367470

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.