ClinVar Miner

List of variants in gene LRP5 reported as likely pathogenic

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Gene type:
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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.4466C>T (p.Thr1489Met) rs376584791 0.00006
NM_002335.4(LRP5):c.685C>T (p.Arg229Trp) rs766589610 0.00006
NM_002335.4(LRP5):c.1331G>A (p.Arg444His) rs761049544 0.00004
NM_002335.4(LRP5):c.2414G>A (p.Arg805Gln) rs565245995 0.00004
NM_002335.4(LRP5):c.4081T>G (p.Cys1361Gly) rs80358320 0.00004
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu) rs748143518 0.00003
NM_002335.4(LRP5):c.1193G>A (p.Arg398His) rs763043311 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
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.1265C>T (p.Ala422Val) rs761919591 0.00001
NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn) rs761131376 0.00001
NM_002335.4(LRP5):c.1321G>A (p.Glu441Lys) rs376152274 0.00001
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.1507G>A (p.Gly503Arg) rs766988509 0.00001
NM_002335.4(LRP5):c.1582G>A (p.Glu528Lys) rs749683290 0.00001
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr) rs544861971 0.00001
NM_002335.4(LRP5):c.2413C>T (p.Arg805Trp) rs765952535 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.425G>A (p.Arg142Gln) rs368198391 0.00001
NC_000011.9:g.(?_68115295)_(68115731_?)dup
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.1123G>A (p.Ala375Thr)
NM_002335.4(LRP5):c.1136A>C (p.Asp379Ala) rs2153153124
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) rs886040977
NM_002335.4(LRP5):c.1192C>G (p.Arg398Gly)
NM_002335.4(LRP5):c.1264G>T (p.Ala422Ser) rs774342727
NM_002335.4(LRP5):c.1339G>A (p.Gly447Ser)
NM_002335.4(LRP5):c.1378G>A (p.Glu460Lys)
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.1732C>T (p.Arg578Trp)
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg) rs80358313
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.2090A>G (p.Lys697Arg) rs1565083843
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter) rs2098614719
NM_002335.4(LRP5):c.2197T>C (p.Tyr733His) rs746701187
NM_002335.4(LRP5):c.2254C>T (p.Arg752Trp) rs121908674
NM_002335.4(LRP5):c.2318+1G>T
NM_002335.4(LRP5):c.2319-2A>C rs2153167012
NM_002335.4(LRP5):c.2371A>G (p.Met791Val)
NM_002335.4(LRP5):c.2457C>G (p.Tyr819Ter) rs1057519127
NM_002335.4(LRP5):c.2484C>G (p.Ile828Met) rs577932894
NM_002335.4(LRP5):c.2543C>A (p.Pro848Gln)
NM_002335.4(LRP5):c.2585A>T (p.Asp862Val) rs2098660903
NM_002335.4(LRP5):c.2666_2667del (p.Val889fs) rs770862328
NM_002335.4(LRP5):c.2737T>C (p.Cys913Arg)
NM_002335.4(LRP5):c.2872C>T (p.Arg958Trp)
NM_002335.4(LRP5):c.3028-1G>A
NM_002335.4(LRP5):c.3070_3071del (p.Arg1024fs)
NM_002335.4(LRP5):c.3077C>G (p.Pro1026Arg) rs201745746
NM_002335.4(LRP5):c.3242T>G (p.Leu1081Arg) rs1308485193
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln) rs200389686
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.3763+2T>C
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr) rs1326459816
NM_002335.4(LRP5):c.3863A>G (p.Asp1288Gly)
NM_002335.4(LRP5):c.3914G>A (p.Cys1305Tyr) rs2153178673
NM_002335.4(LRP5):c.4000+1G>T rs2098673363
NM_002335.4(LRP5):c.4001-2A>G
NM_002335.4(LRP5):c.4083T>G (p.Cys1361Trp)
NM_002335.4(LRP5):c.4090_4111+398del rs2098675378
NM_002335.4(LRP5):c.4112-2A>G
NM_002335.4(LRP5):c.4189_4192del (p.Leu1397fs) rs2098676296
NM_002335.4(LRP5):c.424C>T (p.Arg142Trp)
NM_002335.4(LRP5):c.424_436del (p.Arg142fs)
NM_002335.4(LRP5):c.425G>C (p.Arg142Pro)
NM_002335.4(LRP5):c.4397del (p.Gly1466fs) rs2098677149
NM_002335.4(LRP5):c.440G>A (p.Trp147Ter)
NM_002335.4(LRP5):c.4452del (p.Ser1484fs) rs2098677212
NM_002335.4(LRP5):c.4489-2A>G rs1057519575
NM_002335.4(LRP5):c.480del (p.Ala161fs) rs1057519126
NM_002335.4(LRP5):c.512G>C (p.Gly171Ala)
NM_002335.4(LRP5):c.512G>T (p.Gly171Val) rs121908668
NM_002335.4(LRP5):c.533G>A (p.Arg178Gln) rs183377804
NM_002335.4(LRP5):c.592A>T (p.Asn198Tyr) rs1555075567
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser) rs1085307078
NM_002335.4(LRP5):c.687-2A>T rs2098629307
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) rs121908670
NM_002335.4(LRP5):c.82_91+21del
NM_002335.4(LRP5):c.853C>T (p.Gln285Ter)
NM_002335.4(LRP5):c.883+2_883+3del rs1565347300
NM_002335.4(LRP5):c.884-2A>G rs2153140527
NM_002335.4(LRP5):c.91+1G>T rs2153110244
NM_002335.4(LRP5):c.917G>A (p.Cys306Tyr) rs2098630548

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