ClinVar Miner

List of variants reported as benign for 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 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.1015+15C>T rs201268200 0.11677
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_002335.4(LRP5):c.687-17C>T rs186410639 0.00751
NM_002335.4(LRP5):c.2544G>A (p.Pro848=) rs148271293 0.00083

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