ClinVar Miner

List of variants in gene LRP5 reported as likely 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

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.685C>T (p.Arg229Trp) rs766589610 0.00006
NM_002335.4(LRP5):c.1096G>A (p.Val366Met) rs367543496 0.00003
NM_002335.4(LRP5):c.1183C>T (p.Arg395Trp) rs1177481438 0.00001
NM_002335.4(LRP5):c.1210G>A (p.Gly404Arg) rs750791263 0.00001
NM_002335.4(LRP5):c.1300G>A (p.Asp434Asn) rs757888034 0.00001
NM_002335.4(LRP5):c.3122C>T (p.Thr1041Met) rs1311935185 0.00001
NM_002335.4(LRP5):c.1264G>A (p.Ala422Thr)
NM_002335.4(LRP5):c.1293C>G (p.Tyr431Ter)
NM_002335.4(LRP5):c.1378G>A (p.Glu460Lys)
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.2626G>A (p.Gly876Ser)
NM_002335.4(LRP5):c.3236+2T>G rs1460396716
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp) rs141178995
NM_002335.4(LRP5):c.3709C>T (p.Arg1237Trp)
NM_002335.4(LRP5):c.3863A>G (p.Asp1288Gly)
NM_002335.4(LRP5):c.4191_4192dup (p.Phe1398fs)
NM_002335.4(LRP5):c.4263del (p.Phe1422fs)
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser) rs1085307078

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