ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability, autosomal dominant 5 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006772.3(SYNGAP1):c.1706T>C (p.Phe569Ser)	rs2537422083
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	rs1060503383
NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=)	rs1057518786

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