ClinVar Miner

List of variants reported as likely pathogenic for Autosomal dominant polycystic kidney disease by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.1033T>A (p.Tyr345Asn) rs1485588385
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1548+1G>A rs752024467
NM_000297.4(PKD2):c.1775G>C (p.Arg592Pro) rs1445590170
NM_000297.4(PKD2):c.1843G>A (p.Ala615Thr) rs1216272782
NM_000297.4(PKD2):c.2020-2A>G rs2475970000
NM_000297.4(PKD2):c.2118+2T>C rs2475970459
NM_000297.4(PKD2):c.2522+1G>A
NM_000297.4(PKD2):c.2649del (p.Arg883fs) rs2476009603
NM_000297.4(PKD2):c.709+1G>A rs398123308

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