ClinVar Miner

List of variants 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 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 243
Download table as spreadsheet
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.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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.