List of variants in gene SYNGAP1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter)	rs1760897843
NM_006772.3(SYNGAP1):c.1160dup (p.Gly388fs)
NM_006772.3(SYNGAP1):c.1243G>T (p.Glu415Ter)	rs1554121273
NM_006772.3(SYNGAP1):c.1303_1304dup (p.Leu435fs)	rs1760906699
NM_006772.3(SYNGAP1):c.14_27dup (p.Arg10fs)
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter)	rs1554121443
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)	rs397514670
NM_006772.3(SYNGAP1):c.2230C>T (p.Gln744Ter)	rs1554121947
NM_006772.3(SYNGAP1):c.2323C>T (p.Arg775Ter)	rs1554122080
NM_006772.3(SYNGAP1):c.2755C>T (p.Gln919Ter)	rs1554122242
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter)	rs749188610
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter)	rs397514741
NM_006772.3(SYNGAP1):c.467_479del (p.Phe156fs)
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)	rs1057518352
NM_006772.3(SYNGAP1):c.509+1G>A	rs1561781989
NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs)	rs2151168473

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