ClinVar Miner

List of variants in gene PKD2 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 11
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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.2720G>A (p.Arg907Gln) rs150947109 0.00086
NM_000297.4(PKD2):c.2392C>T (p.Arg798Cys) rs150838063 0.00010
NM_000297.4(PKD2):c.1555G>A (p.Val519Met) rs148920907 0.00004
NM_000297.4(PKD2):c.2449G>A (p.Asp817Asn) rs761597786 0.00001
NM_000297.4(PKD2):c.1168G>A (p.Gly390Ser) rs1578133666
NM_000297.4(PKD2):c.1766C>A (p.Thr589Asn) rs1553926904
NM_000297.4(PKD2):c.1796G>A (p.Gly599Asp) rs1560620374
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile) rs943891159
NM_000297.4(PKD2):c.2231A>G (p.Asp744Gly) rs763311767
NM_000297.4(PKD2):c.749C>G (p.Thr250Ser) rs1341016726

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