ClinVar Miner

List of variants reported as not provided for Intellectual disability, autosomal dominant 5 by GenomeConnect - Brain Gene Registry

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1022_1030delinsTA (p.Gly341fs)
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs) rs587780470
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) rs1060503386
NM_006772.3(SYNGAP1):c.190-2A>G rs1776941586
NM_006772.3(SYNGAP1):c.2539C>T (p.Gln847Ter) rs1554122200
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.654_655del (p.Phe218fs) rs1777299176

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