ClinVar Miner

List of variants in gene LRP5 reported as pathogenic for congenital vitreoretinal dysplasia

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter) rs121908667 0.00001
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) rs886043590 0.00001
NM_002335.4(LRP5):c.442C>T (p.Gln148Ter) rs1396340484 0.00001
NM_002335.4(LRP5):c.731C>T (p.Thr244Met) rs397514665 0.00001
NC_000011.8:g.(67967534_67967551)_(67974756_67974774)del
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu) rs397514664
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter) rs121908666
NM_002335.4(LRP5):c.1468del (p.Asp490fs) rs1554967141
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.1512G>A (p.Trp504Ter) rs545508982
NM_002335.4(LRP5):c.1584+1G>A rs1554967176
NM_002335.4(LRP5):c.1655C>T (p.Thr552Met) rs397514663
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp) rs121908665
NM_002335.4(LRP5):c.2151dup (p.Asp718Ter) rs121908662
NM_002335.4(LRP5):c.2305del (p.Asp769fs) rs1554971145
NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter) rs121908663
NM_002335.4(LRP5):c.29G>A (p.Trp10Ter) rs121908660
NM_002335.4(LRP5):c.3804del (p.Glu1270fs) rs80358319
NM_002335.4(LRP5):c.433C>T (p.Leu145Phe) rs80358305
NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter) rs149645175

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