ClinVar Miner

List of variants in gene PKHD1 reported as likely benign by Laboratory of Molecular Diagnosis of Genetic Disease, Università degli Studi di Napoli Federico II

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)	rs142522748	0.01047

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