ClinVar Miner

List of variants in gene LRP5 reported as pathogenic for Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002335.4(LRP5):c.2737dup (p.Cys913fs)	rs886043590	0.00001
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter)	rs2098614719

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