List of variants in gene SYNGAP1 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp)	rs139853969	0.00003
NM_006772.3(SYNGAP1):c.2591C>T (p.Ala864Val)	rs1581995772	0.00002
NM_006772.3(SYNGAP1):c.1253_1254del (p.Lys418fs)	rs1760905282
NM_006772.3(SYNGAP1):c.1697_1700dup (p.Val568fs)	rs1554121671
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	rs1060503383
NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=)	rs1057518786
NM_006772.3(SYNGAP1):c.2337-7C>G	rs1761085805
NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs)	rs1057518796
NM_006772.3(SYNGAP1):c.3731G>A (p.Ser1244Asn)	rs1761212138

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