ClinVar Miner

List of variants in gene SYNGAP1 reported by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1249_1252dup (p.Lys418delinsIleTer) rs1760904978
NM_006772.3(SYNGAP1):c.1255G>T (p.Glu419Ter) rs2151170014
NM_006772.3(SYNGAP1):c.1741C>T (p.Arg581Trp) rs2151180654
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs) rs1761049027
NM_006772.3(SYNGAP1):c.2982del (p.Lys994fs)
NM_006772.3(SYNGAP1):c.3269dup (p.Asn1090fs) rs2151190684
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3408+1G>C rs1554122402
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.3920C>A (p.Pro1307Gln) rs1175644186
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.670A>G (p.Thr224Ala) rs1777305165

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.