ClinVar Miner

List of variants in gene SYNGAP1 reported as uncertain significance for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1455C>T (p.Arg485=) rs201107225 0.00011
NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=) rs375587730 0.00007
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=) rs555363112 0.00004
NM_006772.3(SYNGAP1):c.1677-4C>G rs538524761 0.00002
NM_006772.3(SYNGAP1):c.3172G>A (p.Gly1058Ser) rs767071930 0.00002
NM_006772.3(SYNGAP1):c.2225G>A (p.Arg742Gln) rs959800067 0.00001
NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln) rs761691865 0.00001
NM_006772.3(SYNGAP1):c.3583-3C>T rs771888857 0.00001
NM_006772.3(SYNGAP1):c.3662G>A (p.Arg1221Gln) rs906055922 0.00001
NM_006772.3(SYNGAP1):c.1300G>A (p.Val434Ile) rs797046027
NM_006772.3(SYNGAP1):c.1559C>T (p.Ser520Phe)
NM_006772.3(SYNGAP1):c.1865CCCTCA[1] (p.622TL[1]) rs1554121722
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys) rs1202720979
NM_006772.3(SYNGAP1):c.2336+7G>A
NM_006772.3(SYNGAP1):c.2619C>G (p.Ser873Arg) rs2151188538
NM_006772.3(SYNGAP1):c.2724G>C (p.Gln908His) rs1554122236
NM_006772.3(SYNGAP1):c.2835T>A (p.His945Gln)
NM_006772.3(SYNGAP1):c.2983C>T (p.Pro995Ser) rs1554122279
NM_006772.3(SYNGAP1):c.3002T>C (p.Leu1001Pro)
NM_006772.3(SYNGAP1):c.3363C>T (p.Ser1121=) rs1478769596
NM_006772.3(SYNGAP1):c.3557C>T (p.Ser1186Leu) rs1554122485
NM_006772.3(SYNGAP1):c.387+8G>A
NM_006772.3(SYNGAP1):c.958G>A (p.Val320Ile)

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.