ClinVar Miner

List of variants in gene BMPR1A reported as likely benign by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004329.3(BMPR1A):c.676-6A>C rs186999445 0.00014
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490 0.00011
NM_004329.3(BMPR1A):c.530+13T>G rs367550999 0.00010
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met) rs55932635 0.00009
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=) rs535411352 0.00009
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) rs200951235 0.00007
NM_004329.3(BMPR1A):c.879G>A (p.Ala293=) rs770203548 0.00007
NM_004329.3(BMPR1A):c.1401C>T (p.Tyr467=) rs149787558 0.00004
NM_004329.3(BMPR1A):c.1474-10T>C rs369633360 0.00004
NM_004329.3(BMPR1A):c.1474-9A>G rs372031054 0.00004
NM_004329.3(BMPR1A):c.430+11C>T rs762244358 0.00004
NM_004329.3(BMPR1A):c.563G>A (p.Arg188His) rs749780872 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_004329.3(BMPR1A):c.117C>T (p.Ser39=) rs757333646 0.00003
NM_004329.3(BMPR1A):c.1422G>A (p.Val474=) rs760220938 0.00003
NM_004329.3(BMPR1A):c.198C>T (p.His66=) rs150493865 0.00003
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=) rs747266339 0.00003
NM_004329.3(BMPR1A):c.530+12T>C rs976070262 0.00003
NM_004329.3(BMPR1A):c.68-12A>G rs201120747 0.00003
NM_004329.3(BMPR1A):c.1017C>G (p.Ala339=) rs780130011 0.00002
NM_004329.3(BMPR1A):c.1068C>T (p.Pro356=) rs759520915 0.00002
NM_004329.3(BMPR1A):c.12A>G (p.Leu4=) rs772729006 0.00002
NM_004329.3(BMPR1A):c.1342+11G>A rs548013712 0.00002
NM_004329.3(BMPR1A):c.1368A>G (p.Pro456=) rs864622447 0.00002
NM_004329.3(BMPR1A):c.1473+9A>G rs920145716 0.00002
NM_004329.3(BMPR1A):c.1474-8C>T rs1163768825 0.00002
NM_004329.3(BMPR1A):c.1569G>A (p.Lys523=) rs876659703 0.00002
NM_004329.3(BMPR1A):c.1578A>G (p.Glu526=) rs202030576 0.00002
NM_004329.3(BMPR1A):c.230+7A>G rs186530845 0.00002
NM_004329.3(BMPR1A):c.27A>G (p.Arg9=) rs751420248 0.00002
NM_004329.3(BMPR1A):c.675+18A>G rs533369424 0.00002
NM_004329.3(BMPR1A):c.762T>C (p.Arg254=) rs372569976 0.00002
NM_004329.3(BMPR1A):c.765C>T (p.Gly255=) rs786201114 0.00002
NM_004329.3(BMPR1A):c.885C>T (p.Asp295=) rs773569581 0.00002
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=) rs1060503407 0.00001
NM_004329.3(BMPR1A):c.1086C>T (p.Asp362=) rs201415408 0.00001
NM_004329.3(BMPR1A):c.1089A>G (p.Leu363=) rs863224393 0.00001
NM_004329.3(BMPR1A):c.1146C>A (p.Gly382=) rs786203626 0.00001
NM_004329.3(BMPR1A):c.1152T>C (p.Ala384=) rs1057520795 0.00001
NM_004329.3(BMPR1A):c.1167-12C>G rs1406664448 0.00001
NM_004329.3(BMPR1A):c.1173A>T (p.Thr391=) rs766032673 0.00001
NM_004329.3(BMPR1A):c.1191C>G (p.Pro397=) rs751078831 0.00001
NM_004329.3(BMPR1A):c.1206G>A (p.Val402=) rs1843665394 0.00001
NM_004329.3(BMPR1A):c.1230C>T (p.Pro410=) rs200642188 0.00001
NM_004329.3(BMPR1A):c.1242C>T (p.Asp414=) rs767296986 0.00001
NM_004329.3(BMPR1A):c.1296C>T (p.Ser432=) rs1060504907 0.00001
NM_004329.3(BMPR1A):c.1335C>T (p.Ile445=) rs1218546341 0.00001
NM_004329.3(BMPR1A):c.1343-3T>C rs771504880 0.00001
NM_004329.3(BMPR1A):c.1347C>T (p.Ile449=) rs1057520966 0.00001
NM_004329.3(BMPR1A):c.1362A>G (p.Gln454=) rs764090248 0.00001
NM_004329.3(BMPR1A):c.1371T>C (p.Tyr457=) rs1484956301 0.00001
NM_004329.3(BMPR1A):c.1398A>C (p.Ser466=) rs56410735 0.00001
NM_004329.3(BMPR1A):c.1473+11C>G rs1554891622 0.00001
NM_004329.3(BMPR1A):c.1473+18C>T rs764229448 0.00001
NM_004329.3(BMPR1A):c.1473+19C>A rs754418526 0.00001
NM_004329.3(BMPR1A):c.1479A>G (p.Leu493=) rs1554891640 0.00001
NM_004329.3(BMPR1A):c.1536C>T (p.Leu512=) rs758796892 0.00001
NM_004329.3(BMPR1A):c.1543T>C (p.Leu515=) rs746700427 0.00001
NM_004329.3(BMPR1A):c.183C>T (p.Cys61=) rs140610221 0.00001
NM_004329.3(BMPR1A):c.189C>T (p.Cys63=) rs1413243663 0.00001
NM_004329.3(BMPR1A):c.230+19C>A rs751663790 0.00001
NM_004329.3(BMPR1A):c.230+3A>G rs1060503393 0.00001
NM_004329.3(BMPR1A):c.276A>G (p.Gly92=) rs1564715466 0.00001
NM_004329.3(BMPR1A):c.294A>G (p.Ser98=) rs764466269 0.00001
NM_004329.3(BMPR1A):c.312A>G (p.Glu104=) rs1199044872 0.00001
NM_004329.3(BMPR1A):c.333+15G>A rs778536321 0.00001
NM_004329.3(BMPR1A):c.334-10C>T rs1554888956 0.00001
NM_004329.3(BMPR1A):c.357C>G (p.Arg119=) rs757950894 0.00001
NM_004329.3(BMPR1A):c.372T>C (p.Cys124=) rs755028781 0.00001
NM_004329.3(BMPR1A):c.411A>G (p.Thr137=) rs777389675 0.00001
NM_004329.3(BMPR1A):c.430+12G>A rs201530603 0.00001
NM_004329.3(BMPR1A):c.430+20T>A rs1404317235 0.00001
NM_004329.3(BMPR1A):c.431-5G>A rs587782334 0.00001
NM_004329.3(BMPR1A):c.474T>C (p.Ile158=) rs759223499 0.00001
NM_004329.3(BMPR1A):c.516C>T (p.Ser172=) rs1391614707 0.00001
NM_004329.3(BMPR1A):c.531-13G>A rs1373055592 0.00001
NM_004329.3(BMPR1A):c.594A>G (p.Ala198=) rs369860867 0.00001
NM_004329.3(BMPR1A):c.67+15A>G rs1483213298 0.00001
NM_004329.3(BMPR1A):c.675+20A>G rs746319662 0.00001
NM_004329.3(BMPR1A):c.676-12T>C rs1057520681 0.00001
NM_004329.3(BMPR1A):c.676-3A>C rs587782760 0.00001
NM_004329.3(BMPR1A):c.676-4A>G rs929042482 0.00001
NM_004329.3(BMPR1A):c.68-18T>C rs1057521738 0.00001
NM_004329.3(BMPR1A):c.682C>A (p.Arg228=) rs587782682 0.00001
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln) rs191742018 0.00001
NM_004329.3(BMPR1A):c.753C>T (p.Gly251=) rs878854674 0.00001
NM_004329.3(BMPR1A):c.786A>G (p.Val262=) rs745728681 0.00001
NM_004329.3(BMPR1A):c.789C>T (p.Phe263=) rs771932684 0.00001
NM_004329.3(BMPR1A):c.897A>T (p.Thr299=) rs1057521188 0.00001
NM_004329.3(BMPR1A):c.972T>C (p.Ala324=) rs1301330096 0.00001
NM_004329.3(BMPR1A):c.975A>G (p.Thr325=) rs974541270 0.00001
NM_004329.3(BMPR1A):c.*17G>A rs574861235
NM_004329.3(BMPR1A):c.*1T>C rs1843704052
NM_004329.3(BMPR1A):c.*7A>G rs1564725864
NM_004329.3(BMPR1A):c.-14A>C rs1554886795
NM_004329.3(BMPR1A):c.1032C>T (p.His344=) rs1589291699
NM_004329.3(BMPR1A):c.1077T>C (p.Ala359=) rs761131818
NM_004329.3(BMPR1A):c.1101C>T (p.Asn367=) rs863224394
NM_004329.3(BMPR1A):c.1107C>T (p.Leu369=) rs761569881
NM_004329.3(BMPR1A):c.1122G>A (p.Gly374=) rs1589291806
NM_004329.3(BMPR1A):c.1141C>T (p.Leu381=) rs864622566
NM_004329.3(BMPR1A):c.1164C>T (p.Asn388=)
NM_004329.3(BMPR1A):c.1166+16C>A rs779667550
NM_004329.3(BMPR1A):c.1166+17C>T rs1554891123
NM_004329.3(BMPR1A):c.1167-20T>C rs1843664156
NM_004329.3(BMPR1A):c.117C>G (p.Ser39=) rs757333646
NM_004329.3(BMPR1A):c.1188G>A (p.Val396=) rs1843665086
NM_004329.3(BMPR1A):c.1215A>G (p.Lys405=) rs587781522
NM_004329.3(BMPR1A):c.1230C>G (p.Pro410=) rs200642188
NM_004329.3(BMPR1A):c.1263C>T (p.His421=) rs1589292651
NM_004329.3(BMPR1A):c.1266C>T (p.Phe422=) rs786202823
NM_004329.3(BMPR1A):c.126A>G (p.Lys42=) rs773814289
NM_004329.3(BMPR1A):c.1278C>A (p.Ile426=) rs1564725025
NM_004329.3(BMPR1A):c.1284T>A (p.Ala428=) rs1564725030
NM_004329.3(BMPR1A):c.1293C>T (p.Tyr431=) rs1554891344
NM_004329.3(BMPR1A):c.1311T>C (p.Ile437=) rs541331090
NM_004329.3(BMPR1A):c.1323T>C (p.Ala441=) rs2133608618
NM_004329.3(BMPR1A):c.132A>C (p.Ser44=) rs1554888111
NM_004329.3(BMPR1A):c.1342+11G>T rs548013712
NM_004329.3(BMPR1A):c.1343-13C>T rs1843694210
NM_004329.3(BMPR1A):c.1343-13_1343-11delinsTAC
NM_004329.3(BMPR1A):c.1343-5T>C rs1554891558
NM_004329.3(BMPR1A):c.1368A>T (p.Pro456=)
NM_004329.3(BMPR1A):c.1386G>A (p.Pro462=) rs751815388
NM_004329.3(BMPR1A):c.1386G>C (p.Pro462=)
NM_004329.3(BMPR1A):c.1386G>T (p.Pro462=) rs751815388
NM_004329.3(BMPR1A):c.1395G>A (p.Pro465=) rs55845713
NM_004329.3(BMPR1A):c.1435T>C (p.Leu479=) rs1564725667
NM_004329.3(BMPR1A):c.1440G>A (p.Arg480=) rs1564725678
NM_004329.3(BMPR1A):c.1449G>T (p.Val483=) rs759740989
NM_004329.3(BMPR1A):c.1473+15G>A rs1564725733
NM_004329.3(BMPR1A):c.1473+16T>C rs1564725734
NM_004329.3(BMPR1A):c.1473A>G (p.Glu491=) rs557832530
NM_004329.3(BMPR1A):c.1474-17A>T rs1338945285
NM_004329.3(BMPR1A):c.148T>C (p.Leu50=) rs964544915
NM_004329.3(BMPR1A):c.1539A>T (p.Thr513=) rs780244868
NM_004329.3(BMPR1A):c.1551T>A (p.Ile517=) rs1471929511
NM_004329.3(BMPR1A):c.1587T>C (p.Asp529=) rs864622175
NM_004329.3(BMPR1A):c.174T>C (p.Phe58=) rs1554888126
NM_004329.3(BMPR1A):c.195G>A (p.Gly65=) rs765437517
NM_004329.3(BMPR1A):c.201T>C (p.Cys67=) rs1843127956
NM_004329.3(BMPR1A):c.230+14G>T rs1843128914
NM_004329.3(BMPR1A):c.230+17G>A rs1843128991
NM_004329.3(BMPR1A):c.231-10dup rs747206781
NM_004329.3(BMPR1A):c.231-16T>C rs1564715414
NM_004329.3(BMPR1A):c.231-16T>G rs1564715414
NM_004329.3(BMPR1A):c.231-9C>T rs763313220
NM_004329.3(BMPR1A):c.237T>C (p.Asn79=) rs1843159384
NM_004329.3(BMPR1A):c.24C>T (p.Ile8=) rs1554886810
NM_004329.3(BMPR1A):c.255C>T (p.Ile85=) rs2133407915
NM_004329.3(BMPR1A):c.25A>C (p.Arg9=) rs1564710631
NM_004329.3(BMPR1A):c.261A>G (p.Glu87=) rs1564715455
NM_004329.3(BMPR1A):c.282C>T (p.Thr94=) rs1843161181
NM_004329.3(BMPR1A):c.297G>T (p.Gly99=) rs1251509897
NM_004329.3(BMPR1A):c.300T>C (p.Cys100=) rs754180012
NM_004329.3(BMPR1A):c.309T>C (p.Tyr103=) rs876658891
NM_004329.3(BMPR1A):c.327G>A (p.Gln109=) rs1589764339
NM_004329.3(BMPR1A):c.333+19C>A rs745431046
NM_004329.3(BMPR1A):c.333+6A>C rs1473659802
NM_004329.3(BMPR1A):c.333+6A>T rs1473659802
NM_004329.3(BMPR1A):c.334-11T>C rs1057521072
NM_004329.3(BMPR1A):c.334-14T>C rs1843279043
NM_004329.3(BMPR1A):c.334-17C>A rs1344682586
NM_004329.3(BMPR1A):c.334-4T>C rs1060504904
NM_004329.3(BMPR1A):c.334-7_334-5del rs1182437783
NM_004329.3(BMPR1A):c.345A>G (p.Lys115=) rs1843279598
NM_004329.3(BMPR1A):c.354A>T (p.Leu118=) rs1843279977
NM_004329.3(BMPR1A):c.357C>T (p.Arg119=) rs757950894
NM_004329.3(BMPR1A):c.366A>T (p.Ile122=) rs1843280770
NM_004329.3(BMPR1A):c.396G>A (p.Gln132=) rs1564717712
NM_004329.3(BMPR1A):c.39C>T (p.Ala13=) rs1554886813
NM_004329.3(BMPR1A):c.405A>G (p.Gln135=) rs1589768073
NM_004329.3(BMPR1A):c.430+11del rs1554888990
NM_004329.3(BMPR1A):c.430+19G>A rs1336586702
NM_004329.3(BMPR1A):c.435G>T (p.Pro145=) rs11818239
NM_004329.3(BMPR1A):c.43T>C (p.Leu15=) rs1163803159
NM_004329.3(BMPR1A):c.447C>T (p.Gly149=) rs1589768207
NM_004329.3(BMPR1A):c.513C>T (p.Ser171=) rs1843288258
NM_004329.3(BMPR1A):c.530+20G>T rs1564717972
NM_004329.3(BMPR1A):c.530+8_530+10del rs1564717965
NM_004329.3(BMPR1A):c.591A>G (p.Glu197=) rs2133544983
NM_004329.3(BMPR1A):c.603A>G (p.Pro201=) rs2133545231
NM_004329.3(BMPR1A):c.606T>C (p.Val202=) rs1315251677
NM_004329.3(BMPR1A):c.648T>C (p.Ser216=) rs1060504905
NM_004329.3(BMPR1A):c.67+10T>C rs1842918456
NM_004329.3(BMPR1A):c.673T>C (p.Leu225=) rs1564722012
NM_004329.3(BMPR1A):c.675+17T>C rs757907606
NM_004329.3(BMPR1A):c.676-6A>G rs186999445
NM_004329.3(BMPR1A):c.68-13T>C rs1564714744
NM_004329.3(BMPR1A):c.68-14A>G rs1176229658
NM_004329.3(BMPR1A):c.68-19A>T rs1843124455
NM_004329.3(BMPR1A):c.693C>T (p.Ala231=) rs1060504906
NM_004329.3(BMPR1A):c.705G>A (p.Gln235=) rs780907902
NM_004329.3(BMPR1A):c.711C>A (p.Val237=) rs1554890747
NM_004329.3(BMPR1A):c.711C>G (p.Val237=) rs1554890747
NM_004329.3(BMPR1A):c.714G>A (p.Arg238=) rs1554890752
NM_004329.3(BMPR1A):c.717A>G (p.Gln239=) rs1589290669
NM_004329.3(BMPR1A):c.726A>G (p.Lys242=) rs876659766
NM_004329.3(BMPR1A):c.729C>T (p.Gly243=) rs770821763
NM_004329.3(BMPR1A):c.744A>G (p.Val248=) rs1060504910
NM_004329.3(BMPR1A):c.795C>T (p.Thr265=) rs1843586772
NM_004329.3(BMPR1A):c.831C>A (p.Ile277=) rs876659520
NM_004329.3(BMPR1A):c.834C>T (p.Tyr278=) rs1230919713
NM_004329.3(BMPR1A):c.846A>G (p.Leu282=) rs1843588559
NM_004329.3(BMPR1A):c.868+12C>G rs752136386
NM_004329.3(BMPR1A):c.868+18C>G rs1843589818
NM_004329.3(BMPR1A):c.868+9A>C rs766298777
NM_004329.3(BMPR1A):c.869-13A>T rs2133588722
NM_004329.3(BMPR1A):c.869-14C>G rs527270742
NM_004329.3(BMPR1A):c.869-16C>T rs1843620381
NM_004329.3(BMPR1A):c.869-8C>T rs1843620485
NM_004329.3(BMPR1A):c.909T>C (p.Thr303=) rs1554891026
NM_004329.3(BMPR1A):c.921G>A (p.Leu307=) rs1843622524
NM_004329.3(BMPR1A):c.927T>C (p.Thr309=) rs779691540

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