List of variants in gene PKHD1 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=)	rs1896976	0.96234
NM_138694.4(PKHD1):c.8798-19A>C	rs1326605	0.73187
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)	rs62406032	0.05010
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.3407A>G (p.Tyr1136Cys)	rs41273726	0.00885
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)	rs147222255	0.00223
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)	rs149781976	0.00146
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)	rs142526715	0.00145
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)	rs150838488	0.00057
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_138694.4(PKHD1):c.353del (p.Ser118fs)	rs398124483	0.00003

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