ClinVar Miner

List of variants studied for Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts

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ClinVar version:
Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.1015+15C>T rs201268200 0.11677
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_002335.4(LRP5):c.687-17C>T rs186410639 0.00751
NM_002335.4(LRP5):c.2139G>A (p.Val713=) rs34369535 0.00322
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) rs142328132 0.00250
NM_002335.4(LRP5):c.4431C>T (p.His1477=) rs11574426 0.00238
NM_002335.4(LRP5):c.3256A>G (p.Met1086Val) rs145774832 0.00208
NM_002335.4(LRP5):c.1968C>T (p.His656=) rs144847027 0.00194
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_002335.4(LRP5):c.2828-18T>C rs200093926 0.00145
NM_002335.4(LRP5):c.4488+20A>G rs554995200 0.00145
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442 0.00108
NM_002335.4(LRP5):c.1221G>A (p.Ala407=) rs150970251 0.00106
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=) rs139554243 0.00100
NM_002335.4(LRP5):c.2529C>T (p.Asp843=) rs143204891 0.00099
NM_002335.4(LRP5):c.2544G>A (p.Pro848=) rs148271293 0.00083
NM_002335.4(LRP5):c.4112-14T>C rs200717286 0.00078
NM_002335.4(LRP5):c.4348+3A>G rs61375162 0.00061
NM_002335.4(LRP5):c.686+13G>A rs377344481 0.00059
NM_002335.4(LRP5):c.1015+17G>C rs374132632 0.00055
NM_002335.4(LRP5):c.3285C>T (p.Arg1095=) rs80038357 0.00053
NM_002335.4(LRP5):c.2046T>C (p.Phe682=) rs61740517 0.00050
NM_002335.4(LRP5):c.4348+19G>A rs112052770 0.00048
NM_002335.4(LRP5):c.2763C>T (p.Pro921=) rs147158768 0.00039
NM_002335.4(LRP5):c.4000+11C>G rs367615138 0.00039
NM_002335.4(LRP5):c.1248C>T (p.Asn416=) rs149682423 0.00032
NM_002335.4(LRP5):c.2226C>T (p.Ile742=) rs147932332 0.00032
NM_002335.4(LRP5):c.2503+10G>A rs191125304 0.00031
NM_002335.4(LRP5):c.1395A>C (p.Ala465=) rs200075657 0.00022
NM_002335.4(LRP5):c.488+15G>A rs370558169 0.00022
NM_002335.4(LRP5):c.1134C>T (p.Ile378=) rs139130382 0.00021
NM_002335.4(LRP5):c.1605G>A (p.Thr535=) rs141896162 0.00021
NM_002335.4(LRP5):c.3879G>A (p.Glu1293=) rs759175453 0.00021
NM_002335.4(LRP5):c.4689C>T (p.Tyr1563=) rs149752460 0.00021
NM_002335.4(LRP5):c.2358C>T (p.Ile786=) rs140616444 0.00019
NM_002335.4(LRP5):c.4077C>T (p.Pro1359=) rs143482432 0.00019
NM_002335.4(LRP5):c.3954C>T (p.Asp1318=) rs201352823 0.00018
NM_002335.4(LRP5):c.2115C>T (p.Asn705=) rs145456776 0.00017
NM_002335.4(LRP5):c.2766C>T (p.Gly922=) rs139372523 0.00016
NM_002335.4(LRP5):c.3237-5C>T rs376163277 0.00016
NM_002335.4(LRP5):c.488+11dup rs771667608 0.00016
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) rs201320326 0.00014
NM_002335.4(LRP5):c.295G>A (p.Val99Met) rs768918663 0.00014
NM_002335.4(LRP5):c.3279C>G (p.Ile1093Met) rs140852936 0.00013
NM_002335.4(LRP5):c.2175T>C (p.Val725=) rs200570645 0.00012
NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) rs201916993 0.00012
NM_002335.4(LRP5):c.3888C>T (p.Pro1296=) rs752439831 0.00012
NM_002335.4(LRP5):c.164C>T (p.Ser55Phe) rs148462220 0.00011
NM_002335.4(LRP5):c.3600C>T (p.Gly1200=) rs202207765 0.00011
NM_002335.4(LRP5):c.3837C>T (p.Arg1279=) rs372930578 0.00011
NM_002335.4(LRP5):c.4111+19C>T rs377000624 0.00011
NM_002335.4(LRP5):c.4137C>T (p.Asp1379=) rs139755343 0.00011
NM_002335.4(LRP5):c.714G>A (p.Thr238=) rs149522146 0.00011
NM_002335.4(LRP5):c.1016-19A>G rs373782074 0.00010
NM_002335.4(LRP5):c.4349-17C>T rs372086596 0.00010
NM_002335.4(LRP5):c.1412+12G>A rs189423416 0.00009
NM_002335.4(LRP5):c.3870C>T (p.Ser1290=) rs749656764 0.00009
NM_002335.4(LRP5):c.4391T>C (p.Met1464Thr) rs113007633 0.00009
NM_002335.4(LRP5):c.4580C>T (p.Pro1527Leu) rs80291963 0.00009
NM_002335.4(LRP5):c.3901G>A (p.Ala1301Thr) rs149166384 0.00008
NM_002335.4(LRP5):c.4016A>G (p.Asn1339Ser) rs142001526 0.00008
NM_002335.4(LRP5):c.1328C>T (p.Thr443Met) rs200416179 0.00007
NM_002335.4(LRP5):c.1585-10C>T rs200827533 0.00007
NM_002335.4(LRP5):c.3655C>T (p.Arg1219Cys) rs139847357 0.00007
NM_002335.4(LRP5):c.4065C>T (p.Cys1355=) rs770762272 0.00007
NM_002335.4(LRP5):c.1077G>A (p.Thr359=) rs200179967 0.00006
NM_002335.4(LRP5):c.1636C>T (p.Pro546Ser) rs774097621 0.00006
NM_002335.4(LRP5):c.2951A>G (p.Tyr984Cys) rs759674127 0.00006
NM_002335.4(LRP5):c.3220G>A (p.Val1074Ile) rs376914943 0.00006
NM_002335.4(LRP5):c.3337C>T (p.Arg1113Cys) rs377258285 0.00006
NM_002335.4(LRP5):c.4566G>A (p.Pro1522=) rs368178411 0.00006
NM_002335.4(LRP5):c.4754C>T (p.Ser1585Leu) rs377323023 0.00006
NM_002335.4(LRP5):c.2393C>T (p.Thr798Met) rs371155552 0.00005
NM_002335.4(LRP5):c.2827+5G>A rs373365240 0.00005
NM_002335.4(LRP5):c.4489-6C>T rs377737536 0.00005
NM_002335.4(LRP5):c.4782C>T (p.Pro1594=) rs752602099 0.00005
NM_002335.4(LRP5):c.680C>T (p.Ser227Leu) rs200384949 0.00005
NM_002335.4(LRP5):c.1563C>T (p.Asp521=) rs750457614 0.00004
NM_002335.4(LRP5):c.2414G>A (p.Arg805Gln) rs565245995 0.00004
NM_002335.4(LRP5):c.2518G>A (p.Val840Met) rs757262154 0.00004
NM_002335.4(LRP5):c.3018C>T (p.Asp1006=) rs146792434 0.00004
NM_002335.4(LRP5):c.3196C>T (p.Arg1066Cys) rs201285828 0.00004
NM_002335.4(LRP5):c.3453C>T (p.Asp1151=) rs147175387 0.00004
NM_002335.4(LRP5):c.3852C>T (p.Pro1284=) rs144115017 0.00004
NM_002335.4(LRP5):c.3917C>T (p.Ala1306Val) rs772148405 0.00004
NM_002335.4(LRP5):c.4226G>A (p.Arg1409His) rs765378705 0.00004
NM_002335.4(LRP5):c.4319C>T (p.Pro1440Leu) rs528693139 0.00004
NM_002335.4(LRP5):c.4445C>T (p.Ser1482Leu) rs778004788 0.00004
NM_002335.4(LRP5):c.489-7G>A rs560234502 0.00004
NM_002335.4(LRP5):c.91+9G>C rs569517144 0.00004
NM_002335.4(LRP5):c.924C>T (p.His308=) rs756215440 0.00004
NM_002335.4(LRP5):c.2173G>A (p.Val725Ile) rs769035778 0.00003
NM_002335.4(LRP5):c.3829G>T (p.Ala1277Ser) rs754686025 0.00003
NM_002335.4(LRP5):c.4068C>T (p.Asp1356=) rs367555198 0.00003
NM_002335.4(LRP5):c.407A>C (p.Asn136Thr) rs759063931 0.00003
NM_002335.4(LRP5):c.4112-18T>C rs549631739 0.00003
NM_002335.4(LRP5):c.4297G>A (p.Val1433Met) rs199871539 0.00003
NM_002335.4(LRP5):c.523C>T (p.Arg175Trp) rs373823574 0.00003
NM_002335.4(LRP5):c.556C>T (p.Arg186Trp) rs200484935 0.00003
NM_002335.4(LRP5):c.883+9C>T rs543311335 0.00003
NM_002335.4(LRP5):c.1076C>T (p.Thr359Met) rs746292760 0.00002
NM_002335.4(LRP5):c.148G>A (p.Gly50Arg) rs558895370 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_002335.4(LRP5):c.1801+9G>A rs747941034 0.00002
NM_002335.4(LRP5):c.1923C>T (p.Ile641=) rs17848264 0.00002
NM_002335.4(LRP5):c.2022C>T (p.Val674=) rs748257457 0.00002
NM_002335.4(LRP5):c.2134G>A (p.Val712Met) rs765239493 0.00002
NM_002335.4(LRP5):c.2695C>T (p.Arg899Cys) rs760734426 0.00002
NM_002335.4(LRP5):c.2827C>T (p.Pro943Ser) rs776554205 0.00002
NM_002335.4(LRP5):c.3307C>T (p.Arg1103Cys) rs768840999 0.00002
NM_002335.4(LRP5):c.3427+12G>A rs756103866 0.00002
NM_002335.4(LRP5):c.3606T>C (p.His1202=) rs779308864 0.00002
NM_002335.4(LRP5):c.3656G>A (p.Arg1219His) rs143924910 0.00002
NM_002335.4(LRP5):c.3679A>G (p.Ile1227Val) rs949211640 0.00002
NM_002335.4(LRP5):c.3873C>T (p.Asp1291=) rs1036528598 0.00002
NM_002335.4(LRP5):c.4139G>T (p.Ser1380Ile) rs1300430679 0.00002
NM_002335.4(LRP5):c.4248G>A (p.Ala1416=) rs17848257 0.00002
NM_002335.4(LRP5):c.4432G>A (p.Val1478Ile) rs758606794 0.00002
NM_002335.4(LRP5):c.4638C>T (p.Asp1546=) rs777923928 0.00002
NM_002335.4(LRP5):c.1016-10G>A rs1271777311 0.00001
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys) rs184945579 0.00001
NM_002335.4(LRP5):c.130C>T (p.Arg44Trp) rs371690402 0.00001
NM_002335.4(LRP5):c.1310C>T (p.Thr437Met) rs370901051 0.00001
NM_002335.4(LRP5):c.1337A>G (p.Asn446Ser) rs771268909 0.00001
NM_002335.4(LRP5):c.1484G>A (p.Arg495His) rs200409162 0.00001
NM_002335.4(LRP5):c.1693C>T (p.Arg565Cys) rs745350421 0.00001
NM_002335.4(LRP5):c.1707G>A (p.Glu569=) rs199707305 0.00001
NM_002335.4(LRP5):c.1910T>C (p.Met637Thr) rs1045994595 0.00001
NM_002335.4(LRP5):c.1960G>A (p.Ala654Thr) rs747131775 0.00001
NM_002335.4(LRP5):c.2020G>A (p.Val674Ile) rs543279405 0.00001
NM_002335.4(LRP5):c.2051T>C (p.Val684Ala) rs1339222045 0.00001
NM_002335.4(LRP5):c.220A>G (p.Lys74Glu) rs765603774 0.00001
NM_002335.4(LRP5):c.2265C>T (p.Leu755=) rs1022762292 0.00001
NM_002335.4(LRP5):c.2431A>G (p.Ile811Val) rs758364834 0.00001
NM_002335.4(LRP5):c.2548G>A (p.Gly850Ser) rs776947784 0.00001
NM_002335.4(LRP5):c.2609G>A (p.Arg870Gln) rs774814837 0.00001
NM_002335.4(LRP5):c.2625C>T (p.Ser875=) rs999634205 0.00001
NM_002335.4(LRP5):c.2639C>A (p.Thr880Asn) rs768364811 0.00001
NM_002335.4(LRP5):c.2688C>T (p.His896=) rs1395883769 0.00001
NM_002335.4(LRP5):c.2767G>A (p.Gly923Ser) rs771724060 0.00001
NM_002335.4(LRP5):c.2828-15C>T rs951283192 0.00001
NM_002335.4(LRP5):c.3227C>T (p.Ala1076Val) rs761682970 0.00001
NM_002335.4(LRP5):c.3233G>A (p.Arg1078Gln) rs371323193 0.00001
NM_002335.4(LRP5):c.3407T>C (p.Ile1136Thr) rs776839535 0.00001
NM_002335.4(LRP5):c.358A>G (p.Lys120Glu) rs752483392 0.00001
NM_002335.4(LRP5):c.3614A>C (p.Glu1205Ala) rs1260043027 0.00001
NM_002335.4(LRP5):c.3733G>A (p.Val1245Met) rs1215728276 0.00001
NM_002335.4(LRP5):c.3919C>T (p.Arg1307Trp) rs370347973 0.00001
NM_002335.4(LRP5):c.3951C>T (p.Cys1317=) rs141306017 0.00001
NM_002335.4(LRP5):c.4000+15G>A rs563578294 0.00001
NM_002335.4(LRP5):c.4036G>A (p.Gly1346Ser) rs747638441 0.00001
NM_002335.4(LRP5):c.4066G>A (p.Asp1356Asn) rs1257556169 0.00001
NM_002335.4(LRP5):c.4143G>A (p.Pro1381=) rs759659671 0.00001
NM_002335.4(LRP5):c.4167C>T (p.Pro1389=) rs780535389 0.00001
NM_002335.4(LRP5):c.4258G>A (p.Gly1420Arg) rs778832210 0.00001
NM_002335.4(LRP5):c.425G>A (p.Arg142Gln) rs368198391 0.00001
NM_002335.4(LRP5):c.4269G>A (p.Pro1423=) rs139701701 0.00001
NM_002335.4(LRP5):c.4420G>A (p.Asp1474Asn) rs959633003 0.00001
NM_002335.4(LRP5):c.4518G>A (p.Thr1506=) rs764288902 0.00001
NM_002335.4(LRP5):c.4561A>G (p.Ile1521Val) rs1371991892 0.00001
NM_002335.4(LRP5):c.4609G>A (p.Ala1537Thr) rs144376510 0.00001
NM_002335.4(LRP5):c.4757C>T (p.Ala1586Val) rs767157733 0.00001
NM_002335.4(LRP5):c.1015+19_1015+23del rs761661947
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_002335.4(LRP5):c.1392C>T (p.Ile464=) rs569443429
NM_002335.4(LRP5):c.143C>G (p.Ala48Gly) rs2098614549
NM_002335.4(LRP5):c.1592A>G (p.Asn531Ser) rs2098653807
NM_002335.4(LRP5):c.1594G>C (p.Val532Leu) rs1554969579
NM_002335.4(LRP5):c.1675T>C (p.Tyr559His) rs2153162994
NM_002335.4(LRP5):c.1887C>T (p.Ile629=) rs140958524
NM_002335.4(LRP5):c.201A>C (p.Ala67=) rs540291726
NM_002335.4(LRP5):c.2317G>A (p.Gly773Ser) rs775353605
NM_002335.4(LRP5):c.2318+3_2318+6del rs1292196959
NM_002335.4(LRP5):c.2334C>T (p.Thr778=) rs753035383
NM_002335.4(LRP5):c.2359G>A (p.Val787Met) rs778567335
NM_002335.4(LRP5):c.2437T>C (p.Tyr813His) rs936323278
NM_002335.4(LRP5):c.2504-16GT[3] rs531798381
NM_002335.4(LRP5):c.2513G>A (p.Arg838Gln) rs559129140
NM_002335.4(LRP5):c.3057C>T (p.Gly1019=) rs772416019
NM_002335.4(LRP5):c.3107G>T (p.Arg1036Leu) rs61889560
NM_002335.4(LRP5):c.3187C>T (p.Arg1063Cys) rs753926639
NM_002335.4(LRP5):c.3237-16C>A rs748779058
NM_002335.4(LRP5):c.3391G>A (p.Ala1131Thr) rs1272835374
NM_002335.4(LRP5):c.3404G>A (p.Arg1135His) rs560826688
NM_002335.4(LRP5):c.34CTG[4] (p.Leu16_Leu20del) rs72555376
NM_002335.4(LRP5):c.3528G>A (p.Met1176Ile) rs148217741
NM_002335.4(LRP5):c.3638-19T>C rs1591317491
NM_002335.4(LRP5):c.3782C>G (p.Pro1261Arg) rs764259701
NM_002335.4(LRP5):c.3782C>T (p.Pro1261Leu) rs764259701
NM_002335.4(LRP5):c.4045G>A (p.Val1349Ile) rs2098675334
NM_002335.4(LRP5):c.4135G>A (p.Asp1379Asn) rs1008752977
NM_002335.4(LRP5):c.4199T>C (p.Met1400Thr) rs2153181249
NM_002335.4(LRP5):c.4252G>A (p.Ala1418Thr) rs2153181307
NM_002335.4(LRP5):c.4277A>G (p.Tyr1426Cys) rs931583330
NM_002335.4(LRP5):c.4297G>T (p.Val1433Leu) rs199871539
NM_002335.4(LRP5):c.4454_4465del (p.Ser1485_Ser1488del) rs774251511
NM_002335.4(LRP5):c.4667G>A (p.Arg1556His) rs764447598
NM_002335.4(LRP5):c.533G>T (p.Arg178Leu) rs183377804
NM_002335.4(LRP5):c.575C>T (p.Ser192Leu) rs549579496

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