List of variants in gene SYNGAP1 reported as pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)	rs1064795331
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	rs1060503383
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter)	rs1554122244
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter)	rs749188610
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs)	rs1131691979

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