ClinVar Miner

List of variants studied for osteoporosis-pseudoglioma syndrome by Mendelics

Included ClinVar conditions (5):

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
Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; LRP5-related primary osteoporosis
Osteoporosis with pseudoglioma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)	rs3736228	0.10701
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)	rs4988321	0.03472
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr)	rs1326459816

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