ClinVar Miner

List of variants reported as benign for Autosomal recessive polycystic kidney disease by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728 0.03744
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436

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