ClinVar Miner

List of variants reported as likely pathogenic for Renal cyst by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)	rs749294509	0.00005
NM_138694.4(PKHD1):c.3622dup (p.Leu1208fs)	rs2128151491

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