ClinVar Miner

List of variants reported as likely pathogenic for Polycystic kidney disease by Natera Inc

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Total variants: 5
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NM_138694.4(PKHD1):c.1032_1033del (p.Glu345fs) rs1446729264
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp) rs148356158
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903
NM_138694.4(PKHD1):c.7734-4_7736delinsCTAGAGT rs1583055258

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