ClinVar Miner

List of variants reported as likely pathogenic for Pitt-Hopkins syndrome by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys)	rs2144406630
NM_001083962.2(TCF4):c.560dup (p.Ser188fs)	rs2146265828
NM_001083962.2(TCF4):c.975dup (p.Lys326fs)

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