ClinVar Miner

List of variants in gene LRP5 reported as pathogenic for exudative vitreoretinopathy 1

Included ClinVar conditions (6):

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 1
Exudative vitreoretinopathy 1; Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; LRP5-related primary osteoporosis
Retinopathy of prematurity

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_002335.4(LRP5):c.2737dup (p.Cys913fs)	rs886043590	0.00001
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)	rs121908661
NM_002335.4(LRP5):c.1412+1G>A	rs2098643283
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)	rs121908664

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