List of variants in gene PKHD1 reported as pathogenic for Polycystic kidney disease

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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.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)	rs760222236	0.00007
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)	rs181208607	0.00003
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)	rs754392766	0.00001
NM_138694.4(PKHD1):c.1A>G (p.Met1Val)	rs376987651	0.00001
NM_138694.4(PKHD1):c.383del (p.Thr128fs)	rs868562051	0.00001
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)	rs786204707
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)	rs1057517273
NM_138694.4(PKHD1):c.4021_4022del (p.Gln1341fs)	rs1802068057
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)	rs1210846081
NM_138694.4(PKHD1):c.6442G>T (p.Glu2148Ter)	rs1782990176

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