List of variants in gene PKHD1 reported as likely benign by Pars Genome Lab

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.6490+62A>G	rs12196767	0.14660
NM_138694.4(PKHD1):c.8173+101A>T	rs55777546	0.09629
NM_138694.4(PKHD1):c.8108-64G>A	rs12523926	0.05318
NM_138694.4(PKHD1):c.527+51G>T	rs62406055	0.05032
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)	rs139815340	0.00230
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)	rs139306706	0.00073
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)	rs143737660	0.00038

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