ClinVar Miner

List of variants in gene PKHD1 reported by Institute of Human Genetics,Klinikum rechts der Isar

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Total variants: 3
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NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter) rs201082169
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255

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