ClinVar Miner

List of variants reported as pathogenic for Autosomal dominant polycystic kidney disease by Clinical Genetics Laboratory, Skane University Hospital Lund

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000297.4(PKD2):c.818dup (p.Ser274fs)
NM_001009944.3(PKD1):c.5923C>T (p.Gln1975Ter)	rs2092439541
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)	rs2092020811

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