ClinVar Miner

List of variants in gene LRP5 reported as not provided for autosomal dominant polycystic liver disease

Included ClinVar conditions (14):

ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts
Autosomal dominant polycystic liver disease
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Postmenopausal osteoporosis; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts
Exudative vitreoretinopathy 4; Autosomal dominant osteopetrosis 1; Polycystic liver disease 1; Osteoporosis with pseudoglioma
Polycystic kidney disease, adult type; Autosomal dominant polycystic liver disease
Polycystic liver disease 1
Polycystic liver disease 1; Aortic dilatation; Aortic dissection; Ascending aortic dissection
Polycystic liver disease 1; Polycystic kidney disease
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia
Polycystic liver disease 1; Polycystic kidney disease; Multicystic kidney dysplasia; Cystic renal dysplasia
Polycystic liver disease 2
Polycystic liver disease 3 with or without kidney cysts
Polycystic liver disease 4 with or without kidney cysts

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser)	rs1182722973	0.00001
NM_002335.4(LRP5):c.4651G>A (p.Asp1551Asn)	rs724159827	0.00001
NM_002335.4(LRP5):c.1360G>A (p.Val454Met)	rs373910016
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp)	rs141178995
NM_002335.4(LRP5):c.4587G>C (p.Arg1529Ser)	rs724159826

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