List of variants in gene SYNGAP1 reported as likely 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer)	rs2151172644
NM_006772.3(SYNGAP1):c.1718G>A (p.Arg573Gln)	rs1554121685
NM_006772.3(SYNGAP1):c.2115G>C (p.Lys705Asn)	rs1057518786
NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs)	rs1761087122
NM_006772.3(SYNGAP1):c.2525C>A (p.Ser842Tyr)	rs1561788965
NM_006772.3(SYNGAP1):c.2979dup (p.Lys994fs)	rs1554122276
NM_006772.3(SYNGAP1):c.3594C>G (p.Tyr1198Ter)	rs1007979214
NM_006772.3(SYNGAP1):c.3672del (p.Ser1225fs)	rs2151199493
NM_006772.3(SYNGAP1):c.663+1G>A	rs1064797322
NM_006772.3(SYNGAP1):c.68-1G>A	rs1562869207

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