ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 5 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.2825dup (p.Gly943fs)
NM_006772.3(SYNGAP1):c.3370G>T (p.Gly1124Ter)
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546

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