ClinVar Miner

List of variants reported as likely benign for bone resorption disease

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 140
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_002335.4(LRP5):c.4635C>T (p.Thr1545=) rs145406397 0.00373
NM_005430.4(WNT1):c.264T>A (p.Ser88Arg) rs61758378 0.00373
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_002335.4(LRP5):c.2139G>A (p.Val713=) rs34369535 0.00322
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) rs148976897 0.00298
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_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
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_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_002335.4(LRP5):c.2828-18T>C rs200093926 0.00145
NM_002335.4(LRP5):c.4488+20A>G rs554995200 0.00145
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
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_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00093
NM_004252.5(NHERF1):c.888+13T>C rs200500451 0.00084
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_003052.5(SLC34A1):c.621G>A (p.Ala207=) rs137909349 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_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
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_005032.7(PLS3):c.892-254T>C rs782587498 0.00025
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_003052.5(SLC34A1):c.741C>A (p.Ile247=) rs374121143 0.00013
NM_002335.4(LRP5):c.2175T>C (p.Val725=) rs200570645 0.00012
NM_002335.4(LRP5):c.3888C>T (p.Pro1296=) rs752439831 0.00012
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
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_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=) rs768939354 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_003052.5(SLC34A1):c.510C>T (p.Ile170=) rs552176812 0.00009
NM_002335.4(LRP5):c.3901G>A (p.Ala1301Thr) rs149166384 0.00008
NM_002335.4(LRP5):c.1585-10C>T rs200827533 0.00007
NM_002335.4(LRP5):c.4065C>T (p.Cys1355=) rs770762272 0.00007
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) rs200188855 0.00006
NM_000088.4(COL1A1):c.589-20T>C rs370564344 0.00006
NM_002335.4(LRP5):c.1077G>A (p.Thr359=) rs200179967 0.00006
NM_003052.5(SLC34A1):c.420C>T (p.Asn140=) rs200188041 0.00006
NM_002335.4(LRP5):c.4489-6C>T rs377737536 0.00005
NM_002335.4(LRP5):c.4782C>T (p.Pro1594=) rs752602099 0.00005
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=) rs137867155 0.00005
NM_003052.5(SLC34A1):c.644G>A (p.Arg215Gln) rs1163121743 0.00005
NM_002335.4(LRP5):c.1563C>T (p.Asp521=) rs750457614 0.00004
NM_002335.4(LRP5):c.3018C>T (p.Asp1006=) rs146792434 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.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_003052.5(SLC34A1):c.1698C>T (p.Pro566=) rs377213972 0.00004
NM_003052.5(SLC34A1):c.883T>A (p.Ser295Thr) rs763096294 0.00004
NM_004252.5(NHERF1):c.252C>T (p.Asn84=) rs781350887 0.00004
NM_002335.4(LRP5):c.4068C>T (p.Asp1356=) rs367555198 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.883+9C>T rs543311335 0.00003
NM_003052.5(SLC34A1):c.294C>T (p.Gly98=) rs767269039 0.00003
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=) rs753455668 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.3606T>C (p.His1202=) rs779308864 0.00002
NM_002335.4(LRP5):c.3873C>T (p.Asp1291=) rs1036528598 0.00002
NM_002335.4(LRP5):c.4248G>A (p.Ala1416=) rs17848257 0.00002
NM_002335.4(LRP5):c.4638C>T (p.Asp1546=) rs777923928 0.00002
NM_003052.5(SLC34A1):c.123C>T (p.Ile41=) rs759907707 0.00002
NM_003052.5(SLC34A1):c.1469C>T (p.Pro490Leu) rs372577906 0.00002
NM_004252.5(NHERF1):c.85C>A (p.His29Asn) rs765897805 0.00002
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00001
NM_002335.4(LRP5):c.1016-10G>A rs1271777311 0.00001
NM_002335.4(LRP5):c.1707G>A (p.Glu569=) rs199707305 0.00001
NM_002335.4(LRP5):c.2265C>T (p.Leu755=) rs1022762292 0.00001
NM_002335.4(LRP5):c.2625C>T (p.Ser875=) rs999634205 0.00001
NM_002335.4(LRP5):c.2688C>T (p.His896=) rs1395883769 0.00001
NM_002335.4(LRP5):c.2828-15C>T rs951283192 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.4143G>A (p.Pro1381=) rs759659671 0.00001
NM_002335.4(LRP5):c.4167C>T (p.Pro1389=) rs780535389 0.00001
NM_002335.4(LRP5):c.4269G>A (p.Pro1423=) rs139701701 0.00001
NM_003052.5(SLC34A1):c.397G>A (p.Ala133Thr) rs771178295 0.00001
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000505.4(F12):c.1251-7C>T rs375340260
NM_002335.4(LRP5):c.1015+19_1015+23del rs761661947
NM_002335.4(LRP5):c.1392C>T (p.Ile464=) rs569443429
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.2334C>T (p.Thr778=) rs753035383
NM_002335.4(LRP5):c.2504-16GT[3] rs531798381
NM_002335.4(LRP5):c.3057C>T (p.Gly1019=) rs772416019
NM_002335.4(LRP5):c.3638-19T>C rs1591317491
NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=) rs73336286
NM_003052.5(SLC34A1):c.1174+9C>T rs752762105
NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=) rs1581648732
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=) rs145542852
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003052.5(SLC34A1):c.654G>A (p.Ala218=) rs150592440

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.