ClinVar Miner

List of variants in gene LRP5 reported as uncertain significance for Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 244
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu) rs200624778 0.00026
NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp) rs80358317 0.00021
NM_002335.4(LRP5):c.4600C>G (p.Arg1534Gly) rs149645175 0.00012
NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys) rs113804402 0.00011
NM_002335.4(LRP5):c.3586G>A (p.Ala1196Thr) rs199887400 0.00011
NM_002335.4(LRP5):c.1744A>G (p.Ile582Val) rs1056743758 0.00010
NM_002335.4(LRP5):c.1496A>G (p.Asn499Ser) rs150771999 0.00009
NM_002335.4(LRP5):c.1996G>A (p.Asp666Asn) rs180941579 0.00009
NM_002335.4(LRP5):c.3028C>T (p.Pro1010Ser) rs201793593 0.00009
NM_002335.4(LRP5):c.1132A>G (p.Ile378Val) rs369747444 0.00008
NM_002335.4(LRP5):c.551G>A (p.Ser184Asn) rs142649952 0.00008
NM_002335.4(LRP5):c.1283G>A (p.Arg428Gln) rs770223547 0.00007
NM_002335.4(LRP5):c.2773C>T (p.Arg925Cys) rs369471051 0.00007
NM_002335.4(LRP5):c.4090G>A (p.Gly1364Ser) rs146404570 0.00007
NM_002335.4(LRP5):c.4240C>A (p.Arg1414Ser) rs757683069 0.00007
NM_002335.4(LRP5):c.1642A>G (p.Ile548Val) rs201576246 0.00006
NM_002335.4(LRP5):c.4096G>A (p.Asp1366Asn) rs779534615 0.00006
NM_002335.4(LRP5):c.4466C>T (p.Thr1489Met) rs376584791 0.00006
NM_002335.4(LRP5):c.4610C>T (p.Ala1537Val) rs753256748 0.00006
NM_002335.4(LRP5):c.557G>A (p.Arg186Gln) rs146895334 0.00006
NM_002335.4(LRP5):c.3536G>A (p.Arg1179His) rs372697844 0.00005
NM_002335.4(LRP5):c.4517C>T (p.Thr1506Met) rs371173423 0.00005
NM_002335.4(LRP5):c.4616C>T (p.Pro1539Leu) rs148725079 0.00005
NM_002335.4(LRP5):c.116A>G (p.Asn39Ser) rs770308939 0.00004
NM_002335.4(LRP5):c.1226C>T (p.Thr409Met) rs199686378 0.00004
NM_002335.4(LRP5):c.1331G>A (p.Arg444His) rs761049544 0.00004
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys) rs377144001 0.00004
NM_002335.4(LRP5):c.2015C>T (p.Thr672Met) rs575865236 0.00004
NM_002335.4(LRP5):c.2504-11T>G rs372126973 0.00004
NM_002335.4(LRP5):c.2515G>A (p.Val839Ile) rs974320602 0.00004
NM_002335.4(LRP5):c.284C>T (p.Thr95Met) rs777743208 0.00004
NM_002335.4(LRP5):c.31C>T (p.Pro11Ser) rs1272970460 0.00004
NM_002335.4(LRP5):c.3310G>A (p.Glu1104Lys) rs767690779 0.00004
NM_002335.4(LRP5):c.3325A>G (p.Thr1109Ala) rs773575510 0.00004
NM_002335.4(LRP5):c.4081T>G (p.Cys1361Gly) rs80358320 0.00004
NM_002335.4(LRP5):c.4142C>T (p.Pro1381Leu) rs369637767 0.00004
NM_002335.4(LRP5):c.4292C>T (p.Pro1431Leu) rs561503730 0.00004
NM_002335.4(LRP5):c.435C>T (p.Leu145=) rs569392655 0.00004
NM_002335.4(LRP5):c.803G>C (p.Gly268Ala) rs779893871 0.00004
NM_002335.4(LRP5):c.997G>A (p.Gly333Ser) rs759297600 0.00004
NM_002335.4(LRP5):c.1140C>T (p.Tyr380=) rs142506263 0.00003
NM_002335.4(LRP5):c.1613G>A (p.Arg538Gln) rs138692892 0.00003
NM_002335.4(LRP5):c.3427+5G>A rs763683223 0.00003
NM_002335.4(LRP5):c.3710G>A (p.Arg1237Gln) rs765434644 0.00003
NM_002335.4(LRP5):c.3916G>A (p.Ala1306Thr) rs748395267 0.00003
NM_002335.4(LRP5):c.3958G>A (p.Glu1320Lys) rs748162115 0.00003
NM_002335.4(LRP5):c.408C>A (p.Asn136Lys) rs752352965 0.00003
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu) rs748143518 0.00003
NM_002335.4(LRP5):c.4783G>A (p.Ala1595Thr) rs371285818 0.00003
NM_002335.4(LRP5):c.1117C>T (p.Arg373Trp) rs751683687 0.00002
NM_002335.4(LRP5):c.1220C>T (p.Ala407Val) rs369125661 0.00002
NM_002335.4(LRP5):c.1225A>G (p.Thr409Ala) rs1273567061 0.00002
NM_002335.4(LRP5):c.1315C>T (p.Arg439Cys) rs1218658711 0.00002
NM_002335.4(LRP5):c.2123C>T (p.Ser708Leu) rs532035027 0.00002
NM_002335.4(LRP5):c.2449C>T (p.Arg817Cys) rs775431782 0.00002
NM_002335.4(LRP5):c.2873G>A (p.Arg958Gln) rs765665314 0.00002
NM_002335.4(LRP5):c.3226G>A (p.Ala1076Thr) rs368217689 0.00002
NM_002335.4(LRP5):c.3304G>A (p.Glu1102Lys) rs970458513 0.00002
NM_002335.4(LRP5):c.3637+4C>T rs746451473 0.00002
NM_002335.4(LRP5):c.3844G>A (p.Gly1282Ser) rs747015625 0.00002
NM_002335.4(LRP5):c.4106T>C (p.Met1369Thr) rs746686714 0.00002
NM_002335.4(LRP5):c.4183C>A (p.Leu1395Ile) rs1171364244 0.00002
NM_002335.4(LRP5):c.4400G>A (p.Arg1467Gln) rs150332207 0.00002
NM_002335.4(LRP5):c.532C>T (p.Arg178Trp) rs200728516 0.00002
NM_002335.4(LRP5):c.122G>A (p.Arg41Gln) rs573768844 0.00001
NM_002335.4(LRP5):c.1240G>A (p.Glu414Lys) rs770664323 0.00001
NM_002335.4(LRP5):c.1304C>T (p.Thr435Met) rs777314081 0.00001
NM_002335.4(LRP5):c.1316G>A (p.Arg439His) rs201547952 0.00001
NM_002335.4(LRP5):c.1612C>T (p.Arg538Trp) rs770292689 0.00001
NM_002335.4(LRP5):c.2137G>C (p.Val713Leu) rs751720886 0.00001
NM_002335.4(LRP5):c.2344G>A (p.Gly782Ser) rs537161896 0.00001
NM_002335.4(LRP5):c.2764G>A (p.Gly922Ser) rs773895575 0.00001
NM_002335.4(LRP5):c.283A>C (p.Thr95Pro) rs771960523 0.00001
NM_002335.4(LRP5):c.293C>A (p.Ala98Asp) rs1357664392 0.00001
NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln) rs779935967 0.00001
NM_002335.4(LRP5):c.3041C>T (p.Thr1014Ile) rs1360541726 0.00001
NM_002335.4(LRP5):c.3148G>A (p.Val1050Ile) rs577519439 0.00001
NM_002335.4(LRP5):c.3228G>A (p.Ala1076=) rs767509386 0.00001
NM_002335.4(LRP5):c.3280G>A (p.Glu1094Lys) rs1433868957 0.00001
NM_002335.4(LRP5):c.3298G>A (p.Gly1100Ser) rs770787447 0.00001
NM_002335.4(LRP5):c.3427+6C>T rs373992140 0.00001
NM_002335.4(LRP5):c.3454G>A (p.Ala1152Thr) rs892889194 0.00001
NM_002335.4(LRP5):c.3637+11G>T rs776324795 0.00001
NM_002335.4(LRP5):c.3836G>A (p.Arg1279His) rs145293239 0.00001
NM_002335.4(LRP5):c.3897C>T (p.Ser1299=) rs377145254 0.00001
NM_002335.4(LRP5):c.3920G>A (p.Arg1307Gln) rs760090713 0.00001
NM_002335.4(LRP5):c.3947G>A (p.Arg1316His) rs780957124 0.00001
NM_002335.4(LRP5):c.3952G>A (p.Asp1318Asn) rs541726127 0.00001
NM_002335.4(LRP5):c.4024C>T (p.Arg1342Trp) rs568426341 0.00001
NM_002335.4(LRP5):c.4168G>A (p.Val1390Ile) rs745582449 0.00001
NM_002335.4(LRP5):c.4324G>A (p.Gly1442Ser) rs778882996 0.00001
NM_002335.4(LRP5):c.4487C>T (p.Pro1496Leu) rs778202459 0.00001
NM_002335.4(LRP5):c.4488+6G>T rs751829465 0.00001
NM_002335.4(LRP5):c.4583A>C (p.Tyr1528Ser) rs1182722973 0.00001
NM_002335.4(LRP5):c.4586+3A>G rs374747007 0.00001
NM_002335.4(LRP5):c.4651G>A (p.Asp1551Asn) rs724159827 0.00001
NM_002335.4(LRP5):c.4720C>G (p.Pro1574Ala) rs748088266 0.00001
NM_002335.4(LRP5):c.739G>A (p.Gly247Arg) rs773226526 0.00001
NM_002335.4(LRP5):c.872G>A (p.Arg291Gln) rs777003697 0.00001
NM_002335.4(LRP5):c.98C>T (p.Pro33Leu) rs753259758 0.00001
NM_002335.4(LRP5):c.1015+4A>G
NM_002335.4(LRP5):c.1023G>C (p.Glu341Asp)
NM_002335.4(LRP5):c.1050G>A (p.Thr350=)
NM_002335.4(LRP5):c.1075A>G (p.Thr359Ala)
NM_002335.4(LRP5):c.1111G>A (p.Asp371Asn)
NM_002335.4(LRP5):c.1154G>A (p.Gly385Asp)
NM_002335.4(LRP5):c.1161C>T (p.Val387=)
NM_002335.4(LRP5):c.1356C>G (p.Ile452Met)
NM_002335.4(LRP5):c.1360G>A (p.Val454Met) rs373910016
NM_002335.4(LRP5):c.1405G>A (p.Val469Met)
NM_002335.4(LRP5):c.1412+11C>T rs202149761
NM_002335.4(LRP5):c.151G>A (p.Val51Ile)
NM_002335.4(LRP5):c.1532A>C (p.Asp511Ala)
NM_002335.4(LRP5):c.1616C>T (p.Thr539Ile)
NM_002335.4(LRP5):c.1633C>A (p.Leu545Ile)
NM_002335.4(LRP5):c.1637C>A (p.Pro546Gln) rs1404203617
NM_002335.4(LRP5):c.167C>T (p.Thr56Ile)
NM_002335.4(LRP5):c.1694G>A (p.Arg565His)
NM_002335.4(LRP5):c.1705G>A (p.Glu569Lys)
NM_002335.4(LRP5):c.1730G>A (p.Ser577Asn)
NM_002335.4(LRP5):c.1783A>C (p.Asn595His)
NM_002335.4(LRP5):c.1802-16C>G rs1284857527
NM_002335.4(LRP5):c.1850T>G (p.Phe617Cys)
NM_002335.4(LRP5):c.1921A>T (p.Ile641Phe)
NM_002335.4(LRP5):c.1952G>A (p.Ser651Asn)
NM_002335.4(LRP5):c.1990AAC[1] (p.Asn665del) rs780882911
NM_002335.4(LRP5):c.2047G>A (p.Asp683Asn) rs1470530779
NM_002335.4(LRP5):c.2083A>G (p.Ser695Gly)
NM_002335.4(LRP5):c.2090A>T (p.Lys697Met)
NM_002335.4(LRP5):c.212A>G (p.Gln71Arg)
NM_002335.4(LRP5):c.2171C>T (p.Ala724Val)
NM_002335.4(LRP5):c.2206G>A (p.Asp736Asn)
NM_002335.4(LRP5):c.2273G>A (p.Arg758Lys)
NM_002335.4(LRP5):c.2275G>A (p.Asp759Asn)
NM_002335.4(LRP5):c.229G>A (p.Val77Met)
NM_002335.4(LRP5):c.2332A>G (p.Thr778Ala)
NM_002335.4(LRP5):c.235T>C (p.Trp79Arg) rs1197978360
NM_002335.4(LRP5):c.2363G>A (p.Arg788Gln)
NM_002335.4(LRP5):c.2386T>C (p.Cys796Arg)
NM_002335.4(LRP5):c.2389A>G (p.Met797Val)
NM_002335.4(LRP5):c.249C>A (p.Ser83Arg)
NM_002335.4(LRP5):c.2503+4A>C
NM_002335.4(LRP5):c.2529C>G (p.Asp843Glu)
NM_002335.4(LRP5):c.2614G>A (p.Asp872Asn)
NM_002335.4(LRP5):c.2665G>A (p.Val889Met)
NM_002335.4(LRP5):c.2696G>A (p.Arg899His) rs1185645450
NM_002335.4(LRP5):c.2713G>A (p.Asp905Asn)
NM_002335.4(LRP5):c.2731G>A (p.Gly911Arg)
NM_002335.4(LRP5):c.2774G>T (p.Arg925Leu) rs373466030
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser) rs764138752
NM_002335.4(LRP5):c.2779G>C (p.Gly927Arg) rs764138752
NM_002335.4(LRP5):c.2797A>G (p.Thr933Ala)
NM_002335.4(LRP5):c.2800C>G (p.Leu934Val)
NM_002335.4(LRP5):c.2816G>A (p.Arg939His)
NM_002335.4(LRP5):c.2827+2dup
NM_002335.4(LRP5):c.2828C>T (p.Pro943Leu)
NM_002335.4(LRP5):c.292G>A (p.Ala98Thr)
NM_002335.4(LRP5):c.2973C>G (p.Ile991Met)
NM_002335.4(LRP5):c.2975A>G (p.Tyr992Cys)
NM_002335.4(LRP5):c.2979G>C (p.Trp993Cys)
NM_002335.4(LRP5):c.2983G>T (p.Asp995Tyr)
NM_002335.4(LRP5):c.2990G>A (p.Arg997His)
NM_002335.4(LRP5):c.3016G>A (p.Asp1006Asn) rs147758521
NM_002335.4(LRP5):c.3028C>G (p.Pro1010Ala)
NM_002335.4(LRP5):c.3056G>A (p.Gly1019Asp)
NM_002335.4(LRP5):c.3126C>T (p.Cys1042=)
NM_002335.4(LRP5):c.316G>A (p.Gly106Ser)
NM_002335.4(LRP5):c.3217G>A (p.Val1073Ile)
NM_002335.4(LRP5):c.321G>A (p.Leu107=)
NM_002335.4(LRP5):c.3237-11C>A
NM_002335.4(LRP5):c.3266G>A (p.Arg1089Gln)
NM_002335.4(LRP5):c.3286G>A (p.Ala1096Thr)
NM_002335.4(LRP5):c.3328G>A (p.Gly1110Ser)
NM_002335.4(LRP5):c.3331C>G (p.Leu1111Val)
NM_002335.4(LRP5):c.3385G>A (p.Val1129Met)
NM_002335.4(LRP5):c.340G>A (p.Ala114Thr)
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln) rs200389686
NM_002335.4(LRP5):c.3459C>T (p.Asn1153=)
NM_002335.4(LRP5):c.34CTG[12] (p.Leu18_Leu20dup) rs72555376
NM_002335.4(LRP5):c.3538G>A (p.Val1180Met)
NM_002335.4(LRP5):c.3556G>T (p.Asp1186Tyr)
NM_002335.4(LRP5):c.359A>G (p.Lys120Arg)
NM_002335.4(LRP5):c.35T>A (p.Leu12Gln) rs1019409513
NM_002335.4(LRP5):c.3604C>T (p.His1202Tyr)
NM_002335.4(LRP5):c.3727C>T (p.His1243Tyr) rs2153176275
NM_002335.4(LRP5):c.3731T>A (p.Leu1244His)
NM_002335.4(LRP5):c.3735G>T (p.Val1245=) rs1251382942
NM_002335.4(LRP5):c.3764-3C>T
NM_002335.4(LRP5):c.3783G>C (p.Pro1261=)
NM_002335.4(LRP5):c.3784G>A (p.Asp1262Asn)
NM_002335.4(LRP5):c.3911C>T (p.Pro1304Leu)
NM_002335.4(LRP5):c.3940C>T (p.Arg1314Cys)
NM_002335.4(LRP5):c.3955G>A (p.Gly1319Ser) rs968164869
NM_002335.4(LRP5):c.3957C>T (p.Gly1319=)
NM_002335.4(LRP5):c.4025G>A (p.Arg1342Gln) rs150088620
NM_002335.4(LRP5):c.4025G>C (p.Arg1342Pro) rs150088620
NM_002335.4(LRP5):c.4025G>T (p.Arg1342Leu)
NM_002335.4(LRP5):c.4042T>C (p.Cys1348Arg)
NM_002335.4(LRP5):c.407A>G (p.Asn136Ser)
NM_002335.4(LRP5):c.4111+3G>A
NM_002335.4(LRP5):c.4130C>T (p.Ser1377Leu)
NM_002335.4(LRP5):c.4141C>G (p.Pro1381Ala)
NM_002335.4(LRP5):c.4175G>T (p.Gly1392Val)
NM_002335.4(LRP5):c.4228_4242dup (p.Arg1414_Tyr1415insValValCysGlnArg)
NM_002335.4(LRP5):c.4231G>A (p.Val1411Met)
NM_002335.4(LRP5):c.4250G>T (p.Gly1417Val)
NM_002335.4(LRP5):c.4294C>T (p.His1432Tyr)
NM_002335.4(LRP5):c.42_43insTTG (p.Leu20dup) rs1565308833
NM_002335.4(LRP5):c.4300C>T (p.Pro1434Ser)
NM_002335.4(LRP5):c.4324G>T (p.Gly1442Cys)
NM_002335.4(LRP5):c.4337G>T (p.Gly1446Val)
NM_002335.4(LRP5):c.4351A>G (p.Ile1451Val)
NM_002335.4(LRP5):c.4358G>A (p.Cys1453Tyr)
NM_002335.4(LRP5):c.4360G>A (p.Gly1454Arg)
NM_002335.4(LRP5):c.4408G>A (p.Val1470Met)
NM_002335.4(LRP5):c.4423C>T (p.Arg1475Trp)
NM_002335.4(LRP5):c.4488+15_4488+30del rs759510890
NM_002335.4(LRP5):c.4488+18G>T
NM_002335.4(LRP5):c.4528C>G (p.Leu1510Val)
NM_002335.4(LRP5):c.4548C>A (p.Phe1516Leu)
NM_002335.4(LRP5):c.4594A>G (p.Ile1532Val)
NM_002335.4(LRP5):c.4658G>A (p.Ser1553Asn)
NM_002335.4(LRP5):c.4714C>T (p.Pro1572Ser)
NM_002335.4(LRP5):c.4799A>C (p.Tyr1600Ser)
NM_002335.4(LRP5):c.4814C>T (p.Pro1605Leu)
NM_002335.4(LRP5):c.533G>A (p.Arg178Gln) rs183377804
NM_002335.4(LRP5):c.54_55insTTG (p.Leu20_Ala21insLeu)
NM_002335.4(LRP5):c.60_61insCTGGCG (p.Leu20_Ala21insLeuAla)
NM_002335.4(LRP5):c.662G>A (p.Arg221His) rs751688462
NM_002335.4(LRP5):c.695T>C (p.Val232Ala) rs1472661046
NM_002335.4(LRP5):c.718_735dup (p.Leu245_Ser246insProPheAlaLeuThrLeu)
NM_002335.4(LRP5):c.772C>T (p.Arg258Cys)
NM_002335.4(LRP5):c.796C>T (p.Arg266Cys)
NM_002335.4(LRP5):c.809A>G (p.Lys270Arg)
NM_002335.4(LRP5):c.884-3C>G
NM_002335.4(LRP5):c.892C>T (p.Arg298Cys)
NM_002335.4(LRP5):c.893G>T (p.Arg298Leu)
NM_002335.4(LRP5):c.91+16C>T
NM_002335.4(LRP5):c.92C>G (p.Ala31Gly)
NM_002335.4(LRP5):c.946G>A (p.Glu316Lys)
NM_002335.4(LRP5):c.95C>T (p.Ser32Leu)
NM_002335.4(LRP5):c.979G>A (p.Val327Met)
NM_002335.4(LRP5):c.997G>T (p.Gly333Cys)

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