ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive polycystic kidney disease by Institute of Human Genetics,Klinikum rechts der Isar

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Total variants: 5
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NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs)

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