List of variants in gene LRP5 reported as likely pathogenic for bone development disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys)	rs765695793	0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp)	rs1270099780	0.00001
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)	rs1398692057	0.00001
NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln)	rs779935967	0.00001
NM_002335.4(LRP5):c.3834G>A (p.Trp1278Ter)	rs2098673217	0.00001
NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln)	rs2153153067
NM_002335.4(LRP5):c.1067C>T (p.Ser356Leu)	rs1158745675
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly)	rs886040977
NM_002335.4(LRP5):c.1384C>T (p.Arg462Ter)	rs1200833757
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)	rs121908664
NM_002335.4(LRP5):c.1A>G (p.Met1Val)	rs2153110162
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr)	rs1057519574
NM_002335.4(LRP5):c.2371A>G (p.Met791Val)
NM_002335.4(LRP5):c.3028-1G>A
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp)	rs141178995
NM_002335.4(LRP5):c.3758G>A (p.Cys1253Tyr)	rs768615287
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr)	rs1326459816
NM_002335.4(LRP5):c.4489-2A>G	rs1057519575
NM_002335.4(LRP5):c.884-2A>G	rs2153140527

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