ClinVar Miner

List of variants in gene LRP5 studied for Exudative vitreoretinopathy 4

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp) rs80358317 0.00021
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe) rs147618989 0.00010
NM_002335.4(LRP5):c.250G>A (p.Glu84Lys) rs201119420 0.00002
NM_002335.4(LRP5):c.883+20C>T rs761245318 0.00002
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys) rs184945579 0.00001
NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn) rs761131376 0.00001
NM_002335.4(LRP5):c.1385G>A (p.Arg462Gln) rs756952499 0.00001
NM_002335.4(LRP5):c.2431A>G (p.Ile811Val) rs758364834 0.00001
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) rs886043590 0.00001
NM_002335.4(LRP5):c.1589T>C (p.Ile530Thr)
NM_002335.4(LRP5):c.2254C>T (p.Arg752Trp) rs121908674
NM_002335.4(LRP5):c.2581A>T (p.Thr861Ser) rs2098660901
NM_002335.4(LRP5):c.3077C>G (p.Pro1026Arg) rs201745746
NM_002335.4(LRP5):c.3914G>A (p.Cys1305Tyr) rs2153178673
NM_002335.4(LRP5):c.424_436del (p.Arg142fs)
NM_002335.4(LRP5):c.4328C>A (p.Ser1443Tyr) rs926919882
NM_002335.4(LRP5):c.4397del (p.Gly1466fs) rs2098677149
NM_002335.4(LRP5):c.440G>A (p.Trp147Ter)
NM_002335.4(LRP5):c.4488G>A (p.Pro1496=) rs1565118560
NM_002335.4(LRP5):c.853C>T (p.Gln285Ter)
NM_002335.4(LRP5):c.917G>A (p.Cys306Tyr) rs2098630548

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