ClinVar Miner

List of variants in gene LRP5 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys) rs113804402 0.00011
NM_002335.4(LRP5):c.1225A>G (p.Thr409Ala) rs1273567061 0.00002
NM_002335.4(LRP5):c.1275G>A (p.Trp425Ter) rs2098643187 0.00001
NM_002335.4(LRP5):c.1300G>A (p.Asp434Asn) rs757888034 0.00001
NM_002335.4(LRP5):c.1321G>A (p.Glu441Lys) rs376152274 0.00001
NM_002335.4(LRP5):c.1330C>T (p.Arg444Cys) rs80358308 0.00001
NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln) rs80358312 0.00001
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) rs1398692057 0.00001
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) rs886043590 0.00001
NM_002335.4(LRP5):c.3122C>T (p.Thr1041Met) rs1311935185 0.00001
NM_002335.4(LRP5):c.3834G>A (p.Trp1278Ter) rs2098673217 0.00001
NM_002335.4(LRP5):c.4087G>A (p.Asp1363Asn) rs756378949 0.00001
NM_002335.4(LRP5):c.442C>T (p.Gln148Ter) rs1396340484 0.00001
NC_000011.10:g.68403494_68403495insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCAGGTGATCAATGTT
NC_000011.9:g.(?_68080183)_(68080293_?)del
NC_000011.9:g.(?_68131195)_(68131431_?)del
NC_000011.9:g.(?_68153764)_(68157540_?)del
NC_000011.9:g.(?_68170931)_(68171187_?)del
NC_000011.9:g.(?_68207225)_(68207404_?)del
NM_002335.4(LRP5):c.1057C>T (p.Arg353Trp)
NM_002335.4(LRP5):c.1058G>A (p.Arg353Gln) rs2153153067
NM_002335.4(LRP5):c.1064del (p.Ile355fs)
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu) rs397514664
NM_002335.4(LRP5):c.1199C>A (p.Ala400Glu) rs201320326
NM_002335.4(LRP5):c.1203C>A (p.Tyr401Ter)
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_002335.4(LRP5):c.1372del (p.Leu458fs)
NM_002335.4(LRP5):c.1375del (p.Asp459fs) rs2153153322
NM_002335.4(LRP5):c.1384C>T (p.Arg462Ter) rs1200833757
NM_002335.4(LRP5):c.1412+1G>A rs2098643283
NM_002335.4(LRP5):c.1474C>T (p.Gln492Ter)
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.1564G>A (p.Ala522Thr) rs80358309
NM_002335.4(LRP5):c.1585-2A>C
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.1828G>A (p.Gly610Arg) rs80358313
NM_002335.4(LRP5):c.1833dup (p.Cys612fs)
NM_002335.4(LRP5):c.185del (p.Leu62fs) rs1555072861
NM_002335.4(LRP5):c.1861dup (p.His621fs) rs1303970751
NM_002335.4(LRP5):c.1870del (p.Arg624fs)
NM_002335.4(LRP5):c.1A>G (p.Met1Val) rs2153110162
NM_002335.4(LRP5):c.1A>T (p.Met1Leu)
NM_002335.4(LRP5):c.204_213del (p.Asp69fs) rs1234997874
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter) rs2098614719
NM_002335.4(LRP5):c.2132_2133dup (p.Val712fs) rs1554971069
NM_002335.4(LRP5):c.2247del (p.Gln750fs) rs2153166468
NM_002335.4(LRP5):c.2254C>G (p.Arg752Gly) rs121908674
NM_002335.4(LRP5):c.2254C>T (p.Arg752Trp) rs121908674
NM_002335.4(LRP5):c.2270G>A (p.Trp757Ter) rs2153166493
NM_002335.4(LRP5):c.2543C>T (p.Pro848Leu) rs1281959115
NM_002335.4(LRP5):c.2647C>T (p.Gln883Ter)
NM_002335.4(LRP5):c.2672dup (p.Asp891fs)
NM_002335.4(LRP5):c.270del (p.Tyr91fs) rs2153129468
NM_002335.4(LRP5):c.2718_2721del (p.Met907fs) rs1244761864
NM_002335.4(LRP5):c.2754dup (p.Ala919fs) rs2153168193
NM_002335.4(LRP5):c.2827+1G>A rs1565092365
NM_002335.4(LRP5):c.2831_2832dup (p.Thr945fs) rs2153169246
NM_002335.4(LRP5):c.3002dup (p.Arg1002fs)
NM_002335.4(LRP5):c.3004C>T (p.Arg1002Ter)
NM_002335.4(LRP5):c.3202A>T (p.Lys1068Ter)
NM_002335.4(LRP5):c.322del (p.Val108fs)
NM_002335.4(LRP5):c.3232C>T (p.Arg1078Ter) rs765402802
NM_002335.4(LRP5):c.3236+2T>G rs1460396716
NM_002335.4(LRP5):c.3280G>T (p.Glu1094Ter)
NM_002335.4(LRP5):c.3344_3345dup (p.Ala1116fs) rs2153173930
NM_002335.4(LRP5):c.3432del (p.Asn1145fs)
NM_002335.4(LRP5):c.346dup (p.Asp116fs) rs2153129564
NM_002335.4(LRP5):c.3742C>T (p.Gln1248Ter) rs1186877944
NM_002335.4(LRP5):c.3761del (p.Gly1254fs)
NM_002335.4(LRP5):c.3768_3819dup (p.Ile1274fs) rs1565111276
NM_002335.4(LRP5):c.381_382insCC (p.Glu128fs)
NM_002335.4(LRP5):c.4057C>T (p.Gln1353Ter) rs1554977547
NM_002335.4(LRP5):c.4087G>C (p.Asp1363His)
NM_002335.4(LRP5):c.4105_4106del (p.Met1369fs)
NM_002335.4(LRP5):c.4142_4158del (p.Pro1381fs)
NM_002335.4(LRP5):c.4142del (p.Pro1381fs) rs2153181207
NM_002335.4(LRP5):c.4189_4192del (p.Leu1397fs) rs2098676296
NM_002335.4(LRP5):c.4263del (p.Phe1422fs)
NM_002335.4(LRP5):c.4349-1G>A rs2098677103
NM_002335.4(LRP5):c.434del (p.Leu145fs)
NM_002335.4(LRP5):c.4452del (p.Ser1484fs) rs2098677212
NM_002335.4(LRP5):c.4453_4482del (p.Ser1485_Tyr1494del) rs2098677216
NM_002335.4(LRP5):c.4482C>A (p.Tyr1494Ter)
NM_002335.4(LRP5):c.4488+2T>G rs80358322
NM_002335.4(LRP5):c.4488+2_4488+17del rs2153182108
NM_002335.4(LRP5):c.4670G>A (p.Trp1557Ter) rs2153185865
NM_002335.4(LRP5):c.4781_4797del (p.Pro1594fs) rs2153185913
NM_002335.4(LRP5):c.47_75del (p.Leu16fs)
NM_002335.4(LRP5):c.480dup (p.Ala161fs) rs1057519126
NM_002335.4(LRP5):c.512G>T (p.Gly171Val) rs121908668
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser) rs1085307078
NM_002335.4(LRP5):c.632G>A (p.Trp211Ter) rs2153136142
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) rs121908670
NM_002335.4(LRP5):c.772del (p.Arg258fs) rs2153139453
NM_002335.4(LRP5):c.840dup (p.Pro281fs) rs1555077255
NM_002335.4(LRP5):c.865C>T (p.Gln289Ter) rs771082674
NM_002335.4(LRP5):c.935del (p.Leu312fs)
NM_002335.4(LRP5):c.961T>C (p.Cys321Arg)
NM_002335.4(LRP5):c.964del (p.Ala322fs)
NM_002335.4(LRP5):c.999_1005dup (p.Cys336fs) rs2153140607

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