ClinVar Miner

List of variants in gene LRP5 studied for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
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Gene type:
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Total variants: 26
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HGVS dbSNP
NC_000011.8:g.(67967534_67967551)_(67974756_67974774)del
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) rs886040977
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu) rs397514664
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) rs201320326
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.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.1999G>A (p.Val667Met) rs4988321
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) rs1057519574
NM_002335.4(LRP5):c.2151dup (p.Asp718Ter) rs121908662
NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter) rs121908667
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.3107G>A (p.Arg1036Gln) rs61889560
NM_002335.4(LRP5):c.3804del (p.Glu1270fs) rs80358319
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr) rs1326459816
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228
NM_002335.4(LRP5):c.433C>T (p.Leu145Phe) rs80358305
NM_002335.4(LRP5):c.4489-2A>G rs1057519575
NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter) rs149645175
NM_002335.4(LRP5):c.731C>T (p.Thr244Met) rs397514665

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