List of variants in gene PKHD1 reported as benign by Genome Diagnostics Laboratory, University Medical Center Utrecht

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)	rs62406032	0.05010
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn)	rs2661488	0.04490
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=)	rs17667728	0.03744
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)	rs1266923	0.03202
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)	rs45500692	0.02436
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)	rs35445653	0.01835
NM_138694.4(PKHD1):c.11174+11A>G	rs115072237	0.01349
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)	rs34548196	0.01161
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)	rs139014478	0.00721
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)	rs76572975
NM_138694.4(PKHD1):c.779-25dup	rs5876252

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