ClinVar Miner

List of variants studied for Motor delay; Atypical behavior; Aggressive behavior; Ptosis; Pointed chin; Abnormal sternum morphology; Delayed speech and language development; Downslanted palpebral fissures; Triangular face; Wide nasal bridge; High forehead; Bulbous tips of toes; Floppy infant

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	rs1060503383

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