ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923

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