List of variants in gene PKHD1 reported as pathogenic by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)	rs180675584	0.00006
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)	rs200511261	0.00005
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)	rs199531851	0.00004
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)	rs797045101

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