ClinVar Miner

List of variants in gene PKD2 reported as uncertain significance for Polycystic kidney disease

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_000297.4(PKD2):c.2391A>C (p.Pro797=) rs556777891 0.00009
NM_000297.4(PKD2):c.710-10T>G rs1727324181 0.00001
NM_000297.4(PKD2):c.711G>C (p.Leu237Phe) rs781318662 0.00001
NM_000297.4(PKD2):c.843+6T>C rs753371816 0.00001
NM_000297.4(PKD2):c.900G>C (p.Gln300His) rs1394365736 0.00001
NM_000297.4(PKD2):c.1262C>A (p.Ala421Glu) rs1727652224
NM_000297.4(PKD2):c.1709G>T (p.Trp570Leu) rs1720129428
NM_000297.4(PKD2):c.1810TTC[1] (p.Phe605del) rs1720323681
NM_000297.4(PKD2):c.2525T>G (p.Leu842Arg) rs1721170351
NM_000297.4(PKD2):c.710-3C>G rs1727324496
NM_000297.4(PKD2):c.875A>C (p.Tyr292Ser) rs1560608538
NM_000297.4(PKD2):c.954T>C (p.Val318=) rs1727418866

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