ClinVar Miner

List of variants in gene PKHD1 reported by Center of Genomic medicine, Geneva,University Hospital of Geneva

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Gene type:
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Total variants: 2
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NM_138694.4(PKHD1):c.10036_10045del (p.Cys3346fs) rs1554216571
NM_138694.4(PKHD1):c.4485del (p.Ser1496fs) rs1325403863

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