List of variants in gene PKHD1 reported as pathogenic by Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)	rs398124478	0.00004
NM_138694.4(PKHD1):c.353del (p.Ser118fs)	rs398124483	0.00003
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)	rs774759689	0.00001
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)	rs1334145215
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter)	rs2150413999
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)	rs769559267
NM_138694.4(PKHD1):c.2285_2286del (p.Val762fs)	rs2128193153
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)	rs1473182306

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