ClinVar Miner

List of variants in gene BMPR1A reported as likely benign for Juvenile polyposis syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 552
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.-25A>G rs116346662 0.01322
NM_004329.3(BMPR1A):c.67+25T>C rs191498701 0.00083
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.1235T>C (p.Val412Ala) rs576247658 0.00014
NM_004329.3(BMPR1A):c.676-6A>C rs186999445 0.00014
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.1216C>T (p.Arg406Cys) rs587781332 0.00004
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+20C>G rs757817530 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.30A>G (p.Leu10=) rs754752449 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.1081C>G (p.Arg361Gly) rs764466442 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.1166+15G>T rs1554891118 0.00001
NM_004329.3(BMPR1A):c.1167-11T>C rs762641480 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.1359C>T (p.Tyr453=) rs876660878 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.1473+11C>G rs1554891622 0.00001
NM_004329.3(BMPR1A):c.1473+14A>G rs1317491486 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.1503A>G (p.Ser501=) rs1413602483 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.225A>G (p.Thr75=) rs1414026379 0.00001
NM_004329.3(BMPR1A):c.230+15C>T rs1334468883 0.00001
NM_004329.3(BMPR1A):c.230+19C>A rs751663790 0.00001
NM_004329.3(BMPR1A):c.276A>G (p.Gly92=) rs1564715466 0.00001
NM_004329.3(BMPR1A):c.285A>G (p.Thr95=) rs1473234057 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.471C>T (p.Leu157=) rs1060504903 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.530+7A>C rs1060504908 0.00001
NM_004329.3(BMPR1A):c.531-13G>A rs1373055592 0.00001
NM_004329.3(BMPR1A):c.531-16T>C rs1375337533 0.00001
NM_004329.3(BMPR1A):c.558A>G (p.Arg186=) rs752388441 0.00001
NM_004329.3(BMPR1A):c.594A>G (p.Ala198=) rs369860867 0.00001
NM_004329.3(BMPR1A):c.60T>C (p.Arg20=) rs780704079 0.00001
NM_004329.3(BMPR1A):c.666A>G (p.Leu222=) rs1843504404 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.676-15C>A rs918982108 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.687T>C (p.Thr229=) rs1402603133 0.00001
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln) rs191742018 0.00001
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr) rs587780783 0.00001
NM_004329.3(BMPR1A):c.753C>T (p.Gly251=) rs878854674 0.00001
NM_004329.3(BMPR1A):c.774G>A (p.Val258=) rs540411494 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.798T>C (p.Thr266=) rs1439711488 0.00001
NM_004329.3(BMPR1A):c.840T>C (p.Thr280=) rs1032369061 0.00001
NM_004329.3(BMPR1A):c.868+19A>G rs1843589862 0.00001
NM_004329.3(BMPR1A):c.869-14C>T rs527270742 0.00001
NM_004329.3(BMPR1A):c.869-4A>C rs964020576 0.00001
NM_004329.3(BMPR1A):c.897A>T (p.Thr299=) rs1057521188 0.00001
NM_004329.3(BMPR1A):c.915C>G (p.Leu305=) rs1371624857 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.1000T>C (p.Leu334=) rs749873461
NM_004329.3(BMPR1A):c.1023T>C (p.Gly341=) rs2133591869
NM_004329.3(BMPR1A):c.1023T>G (p.Gly341=) rs2133591869
NM_004329.3(BMPR1A):c.1026G>C (p.Leu342=) rs768598838
NM_004329.3(BMPR1A):c.1026G>T (p.Leu342=) rs768598838
NM_004329.3(BMPR1A):c.1029C>T (p.Cys343=) rs2133591953
NM_004329.3(BMPR1A):c.102G>A (p.Gly34=) rs876659958
NM_004329.3(BMPR1A):c.1032C>T (p.His344=) rs1589291699
NM_004329.3(BMPR1A):c.1035G>A (p.Leu345=) rs2133592024
NM_004329.3(BMPR1A):c.1044A>G (p.Glu348=) rs781082609
NM_004329.3(BMPR1A):c.1047T>C (p.Ile349=) rs2133592176
NM_004329.3(BMPR1A):c.1050T>C (p.Tyr350=) rs2133592293
NM_004329.3(BMPR1A):c.1053C>T (p.Gly351=) rs1554891081
NM_004329.3(BMPR1A):c.1056C>A (p.Thr352=)
NM_004329.3(BMPR1A):c.1056C>T (p.Thr352=) rs771026490
NM_004329.3(BMPR1A):c.1062A>G (p.Gly354=)
NM_004329.3(BMPR1A):c.1077T>C (p.Ala359=) rs761131818
NM_004329.3(BMPR1A):c.1080T>C (p.His360=) rs2133592946
NM_004329.3(BMPR1A):c.1089A>C (p.Leu363=) rs863224393
NM_004329.3(BMPR1A):c.1089A>T (p.Leu363=)
NM_004329.3(BMPR1A):c.10C>T (p.Leu4=) rs2133321068
NM_004329.3(BMPR1A):c.1101C>T (p.Asn367=) rs863224394
NM_004329.3(BMPR1A):c.1104C>T (p.Ile368=) rs1060504911
NM_004329.3(BMPR1A):c.1107C>G (p.Leu369=)
NM_004329.3(BMPR1A):c.1107C>T (p.Leu369=) rs761569881
NM_004329.3(BMPR1A):c.1119T>C (p.Asn373=) rs1224219121
NM_004329.3(BMPR1A):c.111A>T (p.Ser37=) rs2133394747
NM_004329.3(BMPR1A):c.1122G>A (p.Gly374=) rs1589291806
NM_004329.3(BMPR1A):c.1131C>T (p.Cys377=)
NM_004329.3(BMPR1A):c.1141C>T (p.Leu381=) rs864622566
NM_004329.3(BMPR1A):c.1146C>G (p.Gly382=) rs786203626
NM_004329.3(BMPR1A):c.1155T>A (p.Val385=)
NM_004329.3(BMPR1A):c.1166+10_1166+11insGA
NM_004329.3(BMPR1A):c.1166+11C>A
NM_004329.3(BMPR1A):c.1166+11C>G
NM_004329.3(BMPR1A):c.1166+11C>T rs2133594480
NM_004329.3(BMPR1A):c.1166+11del rs2133594492
NM_004329.3(BMPR1A):c.1166+16C>A rs779667550
NM_004329.3(BMPR1A):c.1166+16C>T rs779667550
NM_004329.3(BMPR1A):c.1166+17C>T rs1554891123
NM_004329.3(BMPR1A):c.1166+18C>T rs2133594586
NM_004329.3(BMPR1A):c.1166+19C>T rs1057522268
NM_004329.3(BMPR1A):c.1166+20A>G
NM_004329.3(BMPR1A):c.1166+7G>C rs2133594453
NM_004329.3(BMPR1A):c.1166+8G>C rs2133594465
NM_004329.3(BMPR1A):c.1166+8G>T rs2133594465
NM_004329.3(BMPR1A):c.1166+8del
NM_004329.3(BMPR1A):c.1166+9T>C
NM_004329.3(BMPR1A):c.1167-11_1167-8del rs1554891308
NM_004329.3(BMPR1A):c.1167-12del rs763184992
NM_004329.3(BMPR1A):c.1167-16C>G
NM_004329.3(BMPR1A):c.1167-19T>C
NM_004329.3(BMPR1A):c.1167-4T>A rs2133605569
NM_004329.3(BMPR1A):c.1167-8T>G rs1589292550
NM_004329.3(BMPR1A):c.1176T>C (p.Asn392=) rs1589292569
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.1191C>T (p.Pro397=)
NM_004329.3(BMPR1A):c.1203G>A (p.Arg401=)
NM_004329.3(BMPR1A):c.1212C>G (p.Thr404=)
NM_004329.3(BMPR1A):c.1215A>G (p.Lys405=) rs587781522
NM_004329.3(BMPR1A):c.1227T>A (p.Ala409=) rs2133606720
NM_004329.3(BMPR1A):c.1230C>G (p.Pro410=) rs200642188
NM_004329.3(BMPR1A):c.1239G>A (p.Leu413=)
NM_004329.3(BMPR1A):c.1249C>T (p.Leu417=) rs1554891334
NM_004329.3(BMPR1A):c.1251G>A (p.Leu417=) rs1554891336
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.1275C>T (p.Tyr425=) rs2133607689
NM_004329.3(BMPR1A):c.1287C>T (p.Asp429=) rs777021606
NM_004329.3(BMPR1A):c.1290C>T (p.Ile430=) rs2133608002
NM_004329.3(BMPR1A):c.1293C>T (p.Tyr431=) rs1554891344
NM_004329.3(BMPR1A):c.129G>A (p.Lys43=) rs1843126055
NM_004329.3(BMPR1A):c.1305A>G (p.Leu435=) rs2133608266
NM_004329.3(BMPR1A):c.1308C>T (p.Ile436=) rs1554891351
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.132A>G (p.Ser44=) rs1554888111
NM_004329.3(BMPR1A):c.1342+10_1342+11insCCT
NM_004329.3(BMPR1A):c.1342+12A>C rs2133609143
NM_004329.3(BMPR1A):c.1342+15A>G rs753601185
NM_004329.3(BMPR1A):c.1342+16G>C
NM_004329.3(BMPR1A):c.1342+18T>G
NM_004329.3(BMPR1A):c.1342+19_1342+30del
NM_004329.3(BMPR1A):c.1342+4G>A
NM_004329.3(BMPR1A):c.1342+7G>A rs1057521936
NM_004329.3(BMPR1A):c.1342+8T>A
NM_004329.3(BMPR1A):c.1343-11_1343-10delinsCC
NM_004329.3(BMPR1A):c.1343-13C>G
NM_004329.3(BMPR1A):c.1343-13C>T rs1843694210
NM_004329.3(BMPR1A):c.1343-20G>A
NM_004329.3(BMPR1A):c.1343-4A>G rs876660326
NM_004329.3(BMPR1A):c.1343-5T>C rs1554891558
NM_004329.3(BMPR1A):c.1343-7C>T
NM_004329.3(BMPR1A):c.1343-8C>G
NM_004329.3(BMPR1A):c.1343-8C>T rs188914676
NM_004329.3(BMPR1A):c.1344G>A (p.Gly448=) rs1589293406
NM_004329.3(BMPR1A):c.1344G>T (p.Gly448=)
NM_004329.3(BMPR1A):c.1347C>A (p.Ile449=) rs1057520966
NM_004329.3(BMPR1A):c.1365G>A (p.Leu455=) rs753694209
NM_004329.3(BMPR1A):c.1374C>T (p.Tyr458=)
NM_004329.3(BMPR1A):c.1377C>T (p.Asn459=)
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.138T>C (p.Asn46=) rs2133395262
NM_004329.3(BMPR1A):c.1395G>A (p.Pro465=) rs55845713
NM_004329.3(BMPR1A):c.1398A>G (p.Ser466=) rs56410735
NM_004329.3(BMPR1A):c.1416G>A (p.Glu472=)
NM_004329.3(BMPR1A):c.141A>G (p.Gly47=)
NM_004329.3(BMPR1A):c.1422G>T (p.Val474=) rs760220938
NM_004329.3(BMPR1A):c.1428C>A (p.Val476=) rs1589293466
NM_004329.3(BMPR1A):c.1434T>A (p.Arg478=) rs1057521680
NM_004329.3(BMPR1A):c.1435T>C (p.Leu479=) rs1564725667
NM_004329.3(BMPR1A):c.1438C>A (p.Arg480=) rs876658515
NM_004329.3(BMPR1A):c.1440G>C (p.Arg480=)
NM_004329.3(BMPR1A):c.1443A>C (p.Pro481=)
NM_004329.3(BMPR1A):c.1446T>C (p.Ile482=)
NM_004329.3(BMPR1A):c.1449G>T (p.Val483=) rs759740989
NM_004329.3(BMPR1A):c.1458G>A (p.Arg486=) rs1355650385
NM_004329.3(BMPR1A):c.1470T>C (p.Asp490=) rs1589293526
NM_004329.3(BMPR1A):c.1473+10A>T
NM_004329.3(BMPR1A):c.1473+12T>C
NM_004329.3(BMPR1A):c.1473+13C>T rs1453637850
NM_004329.3(BMPR1A):c.1473+13del
NM_004329.3(BMPR1A):c.1473+15G>A rs1564725733
NM_004329.3(BMPR1A):c.1473+16T>C rs1564725734
NM_004329.3(BMPR1A):c.1473+17C>G rs1211823741
NM_004329.3(BMPR1A):c.1473+6dup rs1437595171
NM_004329.3(BMPR1A):c.1473+7G>A
NM_004329.3(BMPR1A):c.1473+7G>T rs2133622731
NM_004329.3(BMPR1A):c.1473+8G>A
NM_004329.3(BMPR1A):c.1473A>G (p.Glu491=) rs557832530
NM_004329.3(BMPR1A):c.1474-11_1474-10del rs1447308562
NM_004329.3(BMPR1A):c.1474-15C>G rs772872981
NM_004329.3(BMPR1A):c.1474-20A>G rs2133623500
NM_004329.3(BMPR1A):c.1474-7T>C rs1060504901
NM_004329.3(BMPR1A):c.1474-8C>A
NM_004329.3(BMPR1A):c.1477C>T (p.Leu493=) rs2133623926
NM_004329.3(BMPR1A):c.1479A>T (p.Leu493=)
NM_004329.3(BMPR1A):c.1480C>A (p.Arg494=)
NM_004329.3(BMPR1A):c.1485A>C (p.Ala495=) rs2133624106
NM_004329.3(BMPR1A):c.148T>C (p.Leu50=) rs964544915
NM_004329.3(BMPR1A):c.1509C>T (p.Cys503=)
NM_004329.3(BMPR1A):c.1515C>A (p.Ala505=) rs1589293633
NM_004329.3(BMPR1A):c.1515C>G (p.Ala505=)
NM_004329.3(BMPR1A):c.1524A>C (p.Pro508=)
NM_004329.3(BMPR1A):c.1536C>A (p.Leu512=) rs758796892
NM_004329.3(BMPR1A):c.1539A>G (p.Thr513=)
NM_004329.3(BMPR1A):c.1539A>T (p.Thr513=) rs780244868
NM_004329.3(BMPR1A):c.153A>C (p.Ala51=)
NM_004329.3(BMPR1A):c.153A>G (p.Ala51=)
NM_004329.3(BMPR1A):c.1542A>G (p.Ala514=) rs1589293655
NM_004329.3(BMPR1A):c.1551T>A (p.Ile517=) rs1471929511
NM_004329.3(BMPR1A):c.1560G>T (p.Thr520=) rs142775086
NM_004329.3(BMPR1A):c.156A>G (p.Pro52=) rs1589763398
NM_004329.3(BMPR1A):c.1575T>C (p.Val525=)
NM_004329.3(BMPR1A):c.1596C>A (p.Ile532=) rs201345248
NM_004329.3(BMPR1A):c.1598G>A (p.Ter533=) rs1589293712
NM_004329.3(BMPR1A):c.15C>T (p.Tyr5=) rs1392086533
NM_004329.3(BMPR1A):c.162T>C (p.Asp54=) rs2133395611
NM_004329.3(BMPR1A):c.166T>C (p.Leu56=)
NM_004329.3(BMPR1A):c.168G>A (p.Leu56=) rs1589763414
NM_004329.3(BMPR1A):c.171T>C (p.Pro57=) rs2133395802
NM_004329.3(BMPR1A):c.174T>C (p.Phe58=) rs1554888126
NM_004329.3(BMPR1A):c.175T>C (p.Leu59=)
NM_004329.3(BMPR1A):c.177A>G (p.Leu59=) rs1030150137
NM_004329.3(BMPR1A):c.186T>C (p.Tyr62=) rs2133396011
NM_004329.3(BMPR1A):c.195G>A (p.Gly65=) rs765437517
NM_004329.3(BMPR1A):c.195G>C (p.Gly65=) rs765437517
NM_004329.3(BMPR1A):c.204A>C (p.Pro68=)
NM_004329.3(BMPR1A):c.207T>C (p.Asp69=) rs2133396430
NM_004329.3(BMPR1A):c.210T>C (p.Asp70=) rs1589763468
NM_004329.3(BMPR1A):c.21C>T (p.Tyr7=) rs2133321194
NM_004329.3(BMPR1A):c.222C>T (p.Asn74=) rs2133396713
NM_004329.3(BMPR1A):c.230+11_230+12insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTNNNNNNNNNNTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGCATGTAAGTATTTT rs2133396850
NM_004329.3(BMPR1A):c.230+12A>C
NM_004329.3(BMPR1A):c.230+12dup
NM_004329.3(BMPR1A):c.230+14G>A rs1843128914
NM_004329.3(BMPR1A):c.230+16A>G rs2133397078
NM_004329.3(BMPR1A):c.230+17G>A rs1843128991
NM_004329.3(BMPR1A):c.230+18C>A rs951790171
NM_004329.3(BMPR1A):c.230+18C>G
NM_004329.3(BMPR1A):c.230+19C>G rs751663790
NM_004329.3(BMPR1A):c.230+19C>T rs751663790
NM_004329.3(BMPR1A):c.230+20C>A
NM_004329.3(BMPR1A):c.230+20C>G rs755474277
NM_004329.3(BMPR1A):c.230+20C>T rs755474277
NM_004329.3(BMPR1A):c.231-11T>A rs1343373290
NM_004329.3(BMPR1A):c.231-12T>G
NM_004329.3(BMPR1A):c.231-13T>C
NM_004329.3(BMPR1A):c.231-16T>G rs1564715414
NM_004329.3(BMPR1A):c.231-18T>C
NM_004329.3(BMPR1A):c.231-4T>A
NM_004329.3(BMPR1A):c.231-4T>C rs1589764251
NM_004329.3(BMPR1A):c.231-6T>C rs1042211540
NM_004329.3(BMPR1A):c.231-7G>A rs1293630917
NM_004329.3(BMPR1A):c.231-7del
NM_004329.3(BMPR1A):c.231-9C>A rs763313220
NM_004329.3(BMPR1A):c.231-9C>G rs763313220
NM_004329.3(BMPR1A):c.231-9C>T rs763313220
NM_004329.3(BMPR1A):c.237T>C (p.Asn79=) rs1843159384
NM_004329.3(BMPR1A):c.240A>G (p.Gly80=)
NM_004329.3(BMPR1A):c.240A>T (p.Gly80=) rs1282223116
NM_004329.3(BMPR1A):c.243T>C (p.His81=)
NM_004329.3(BMPR1A):c.246C>T (p.Cys82=) rs759647230
NM_004329.3(BMPR1A):c.24C>T (p.Ile8=) rs1554886810
NM_004329.3(BMPR1A):c.252C>T (p.Ala84=) rs2133407859
NM_004329.3(BMPR1A):c.258A>T (p.Ile86=) rs2133407994
NM_004329.3(BMPR1A):c.267T>C (p.Asp89=) rs753250496
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.315A>C (p.Gly105=) rs2133408970
NM_004329.3(BMPR1A):c.327G>A (p.Gln109=) rs1589764339
NM_004329.3(BMPR1A):c.333+11A>G
NM_004329.3(BMPR1A):c.333+16G>T rs2133409257
NM_004329.3(BMPR1A):c.333+18A>G
NM_004329.3(BMPR1A):c.333+19C>T
NM_004329.3(BMPR1A):c.333+22_333+66dup rs2133409296
NM_004329.3(BMPR1A):c.333+9T>C rs1589764344
NM_004329.3(BMPR1A):c.334-10C>G rs1554888956
NM_004329.3(BMPR1A):c.334-11T>C rs1057521072
NM_004329.3(BMPR1A):c.334-13A>G rs2133453051
NM_004329.3(BMPR1A):c.334-13A>T
NM_004329.3(BMPR1A):c.334-14T>C rs1843279043
NM_004329.3(BMPR1A):c.334-16A>G rs143279531
NM_004329.3(BMPR1A):c.334-16A>T rs143279531
NM_004329.3(BMPR1A):c.334-17C>A rs1344682586
NM_004329.3(BMPR1A):c.334-17_334-15del rs769483063
NM_004329.3(BMPR1A):c.334-18T>G
NM_004329.3(BMPR1A):c.334-19A>G
NM_004329.3(BMPR1A):c.334-19A>T rs2133452985
NM_004329.3(BMPR1A):c.334-4T>C rs1060504904
NM_004329.3(BMPR1A):c.334-4T>G rs1060504904
NM_004329.3(BMPR1A):c.334-7_334-5del rs1182437783
NM_004329.3(BMPR1A):c.334-8T>C rs1554888958
NM_004329.3(BMPR1A):c.342A>G (p.Pro114=)
NM_004329.3(BMPR1A):c.345A>G (p.Lys115=) rs1843279598
NM_004329.3(BMPR1A):c.348C>T (p.Ala116=) rs2133453411
NM_004329.3(BMPR1A):c.352C>T (p.Leu118=) rs587782418
NM_004329.3(BMPR1A):c.357C>A (p.Arg119=) rs757950894
NM_004329.3(BMPR1A):c.357C>T (p.Arg119=) rs757950894
NM_004329.3(BMPR1A):c.360G>T (p.Arg120=) rs1554888968
NM_004329.3(BMPR1A):c.363A>G (p.Thr121=) rs2133453764
NM_004329.3(BMPR1A):c.366A>T (p.Ile122=) rs1843280770
NM_004329.3(BMPR1A):c.369A>G (p.Glu123=)
NM_004329.3(BMPR1A):c.375T>C (p.Cys125=) rs1449209053
NM_004329.3(BMPR1A):c.378G>T (p.Arg126=)
NM_004329.3(BMPR1A):c.384T>C (p.Asn128=) rs2133454210
NM_004329.3(BMPR1A):c.387A>G (p.Leu129=)
NM_004329.3(BMPR1A):c.390T>C (p.Cys130=)
NM_004329.3(BMPR1A):c.396G>A (p.Gln132=) rs1564717712
NM_004329.3(BMPR1A):c.399T>C (p.Tyr133=) rs1843282106
NM_004329.3(BMPR1A):c.39C>G (p.Ala13=)
NM_004329.3(BMPR1A):c.405A>G (p.Gln135=) rs1589768073
NM_004329.3(BMPR1A):c.430+10C>G rs863224395
NM_004329.3(BMPR1A):c.430+10C>T rs863224395
NM_004329.3(BMPR1A):c.430+11C>A
NM_004329.3(BMPR1A):c.430+11C>G
NM_004329.3(BMPR1A):c.430+11del rs1554888990
NM_004329.3(BMPR1A):c.430+14G>A rs2133455070
NM_004329.3(BMPR1A):c.430+14_430+15del
NM_004329.3(BMPR1A):c.430+19G>A rs1336586702
NM_004329.3(BMPR1A):c.430+9G>C rs1554888989
NM_004329.3(BMPR1A):c.431-12T>A rs1469605794
NM_004329.3(BMPR1A):c.431-13del rs1427702408
NM_004329.3(BMPR1A):c.431-15T>C rs1843285624
NM_004329.3(BMPR1A):c.431-17T>C
NM_004329.3(BMPR1A):c.431-18G>A rs2133455755
NM_004329.3(BMPR1A):c.431-5G>T rs587782334
NM_004329.3(BMPR1A):c.431-6T>C rs1589768166
NM_004329.3(BMPR1A):c.431-7T>C rs1843285734
NM_004329.3(BMPR1A):c.432T>C (p.Gly144=) rs879174600
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.456A>G (p.Arg152=) rs2133456447
NM_004329.3(BMPR1A):c.45G>A (p.Leu15=) rs2133321682
NM_004329.3(BMPR1A):c.471C>G (p.Leu157=) rs1060504903
NM_004329.3(BMPR1A):c.472A>C (p.Ile158Leu) rs1564717888
NM_004329.3(BMPR1A):c.486C>T (p.Val162=) rs1843287389
NM_004329.3(BMPR1A):c.495T>C (p.Ile165=)
NM_004329.3(BMPR1A):c.513C>T (p.Ser171=) rs1843288258
NM_004329.3(BMPR1A):c.530+10T>C
NM_004329.3(BMPR1A):c.530+11A>T
NM_004329.3(BMPR1A):c.530+17T>G
NM_004329.3(BMPR1A):c.530+18T>C rs1236856622
NM_004329.3(BMPR1A):c.530+6A>G
NM_004329.3(BMPR1A):c.530+7A>G rs1060504908
NM_004329.3(BMPR1A):c.530+7_530+9del rs2133458177
NM_004329.3(BMPR1A):c.530+8G>A rs964724409
NM_004329.3(BMPR1A):c.530+8G>T
NM_004329.3(BMPR1A):c.531-10T>C
NM_004329.3(BMPR1A):c.531-15C>T
NM_004329.3(BMPR1A):c.531-20G>A rs2133543335
NM_004329.3(BMPR1A):c.531-6T>C rs1564721906
NM_004329.3(BMPR1A):c.537T>C (p.Tyr179=) rs1305949468
NM_004329.3(BMPR1A):c.543G>A (p.Lys181=) rs2133543775
NM_004329.3(BMPR1A):c.546C>T (p.Ser182=)
NM_004329.3(BMPR1A):c.549C>A (p.Ile183=)
NM_004329.3(BMPR1A):c.549C>T (p.Ile183=) rs748339701
NM_004329.3(BMPR1A):c.561T>C (p.Arg187=)
NM_004329.3(BMPR1A):c.567C>T (p.Tyr189=)
NM_004329.3(BMPR1A):c.585G>A (p.Gln195=)
NM_004329.3(BMPR1A):c.588T>C (p.Asp196=) rs1564721952
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.609A>G (p.Gly203=) rs2133545397
NM_004329.3(BMPR1A):c.624C>T (p.Asp208=)
NM_004329.3(BMPR1A):c.627T>C (p.Leu209=) rs2133545536
NM_004329.3(BMPR1A):c.648T>C (p.Ser216=) rs1060504905
NM_004329.3(BMPR1A):c.654T>C (p.Ser218=)
NM_004329.3(BMPR1A):c.657G>T (p.Gly219=) rs2133546041
NM_004329.3(BMPR1A):c.663A>C (p.Gly221=) rs1462920023
NM_004329.3(BMPR1A):c.67+10T>C rs1842918456
NM_004329.3(BMPR1A):c.67+10T>G rs1842918456
NM_004329.3(BMPR1A):c.67+11G>A rs2133322178
NM_004329.3(BMPR1A):c.67+14C>G rs2133322204
NM_004329.3(BMPR1A):c.67+7del rs2133322068
NM_004329.3(BMPR1A):c.67+8A>C rs2133322090
NM_004329.3(BMPR1A):c.67+8A>G rs2133322090
NM_004329.3(BMPR1A):c.67+8_67+9insATTT rs1589757121
NM_004329.3(BMPR1A):c.67+9G>A rs1060504909
NM_004329.3(BMPR1A):c.67+9G>C
NM_004329.3(BMPR1A):c.67+9G>T rs1060504909
NM_004329.3(BMPR1A):c.672A>G (p.Leu224=)
NM_004329.3(BMPR1A):c.675+11C>A
NM_004329.3(BMPR1A):c.675+11C>G
NM_004329.3(BMPR1A):c.675+11C>T
NM_004329.3(BMPR1A):c.675+15C>G
NM_004329.3(BMPR1A):c.675+15C>T
NM_004329.3(BMPR1A):c.675+16C>A
NM_004329.3(BMPR1A):c.675+17T>C rs757907606
NM_004329.3(BMPR1A):c.675+19T>C rs1057522182
NM_004329.3(BMPR1A):c.675+19T>G
NM_004329.3(BMPR1A):c.675+7T>G rs1589288667
NM_004329.3(BMPR1A):c.675+8A>G rs1554890236
NM_004329.3(BMPR1A):c.675+8_675+14del rs2133546414
NM_004329.3(BMPR1A):c.675+9_675+10dup rs2133546467
NM_004329.3(BMPR1A):c.675G>A (p.Leu225=) rs1554890235
NM_004329.3(BMPR1A):c.676-11T>C rs2133574280
NM_004329.3(BMPR1A):c.676-16A>G
NM_004329.3(BMPR1A):c.676-17T>C
NM_004329.3(BMPR1A):c.676-18T>C
NM_004329.3(BMPR1A):c.676-19T>G rs1554890725
NM_004329.3(BMPR1A):c.676-5_676-4del
NM_004329.3(BMPR1A):c.676-6A>G rs186999445
NM_004329.3(BMPR1A):c.676-8C>T rs1554890727
NM_004329.3(BMPR1A):c.68-10T>C
NM_004329.3(BMPR1A):c.68-13T>C rs1564714744
NM_004329.3(BMPR1A):c.68-14A>C
NM_004329.3(BMPR1A):c.68-14A>G rs1176229658
NM_004329.3(BMPR1A):c.68-14A>T rs1176229658
NM_004329.3(BMPR1A):c.68-14del
NM_004329.3(BMPR1A):c.68-20A>C rs750599523
NM_004329.3(BMPR1A):c.68-5T>C rs1060504902
NM_004329.3(BMPR1A):c.68-9T>C
NM_004329.3(BMPR1A):c.693C>G (p.Ala231=) rs1060504906
NM_004329.3(BMPR1A):c.693C>T (p.Ala231=) rs1060504906
NM_004329.3(BMPR1A):c.696A>G (p.Lys232=) rs2133574769
NM_004329.3(BMPR1A):c.69A>G (p.Gly23=) rs780227469
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.714G>A (p.Arg238=) rs1554890752
NM_004329.3(BMPR1A):c.726A>G (p.Lys242=) rs876659766
NM_004329.3(BMPR1A):c.729C>G (p.Gly243=)
NM_004329.3(BMPR1A):c.729C>T (p.Gly243=) rs770821763
NM_004329.3(BMPR1A):c.732A>T (p.Arg244=) rs1554890761
NM_004329.3(BMPR1A):c.735T>C (p.Tyr245=) rs1131691182
NM_004329.3(BMPR1A):c.744A>G (p.Val248=) rs1060504910
NM_004329.3(BMPR1A):c.76C>T (p.Leu26=)
NM_004329.3(BMPR1A):c.777G>T (p.Ala259=)
NM_004329.3(BMPR1A):c.783A>G (p.Lys261=) rs2133576468
NM_004329.3(BMPR1A):c.792T>C (p.Phe264=) rs2133576664
NM_004329.3(BMPR1A):c.795C>T (p.Thr265=) rs1843586772
NM_004329.3(BMPR1A):c.81T>C (p.Asp27=) rs1589763301
NM_004329.3(BMPR1A):c.825A>C (p.Thr275=) rs1345972234
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.843G>A (p.Val281=) rs2133577512
NM_004329.3(BMPR1A):c.846A>G (p.Leu282=) rs1843588559
NM_004329.3(BMPR1A):c.852C>A (p.Arg284=) rs2133577692
NM_004329.3(BMPR1A):c.868+10C>T
NM_004329.3(BMPR1A):c.868+12C>G rs752136386
NM_004329.3(BMPR1A):c.868+12C>T
NM_004329.3(BMPR1A):c.868+13T>C
NM_004329.3(BMPR1A):c.868+13T>G
NM_004329.3(BMPR1A):c.868+18C>A
NM_004329.3(BMPR1A):c.868+18C>G rs1843589818
NM_004329.3(BMPR1A):c.868+20_868+23del
NM_004329.3(BMPR1A):c.868+7A>G rs1554890819
NM_004329.3(BMPR1A):c.868+8C>G rs1843589393
NM_004329.3(BMPR1A):c.868+8C>T rs1843589393
NM_004329.3(BMPR1A):c.868+9A>C rs766298777
NM_004329.3(BMPR1A):c.869-14C>G rs527270742
NM_004329.3(BMPR1A):c.869-15T>C
NM_004329.3(BMPR1A):c.869-16C>T rs1843620381
NM_004329.3(BMPR1A):c.869-5G>C
NM_004329.3(BMPR1A):c.879G>C (p.Ala293=) rs770203548
NM_004329.3(BMPR1A):c.879G>T (p.Ala293=)
NM_004329.3(BMPR1A):c.888T>C (p.Ile296=) rs2133589202
NM_004329.3(BMPR1A):c.894T>C (p.Gly298=) rs1589291531
NM_004329.3(BMPR1A):c.903C>G (p.Ser301=) rs1843621876
NM_004329.3(BMPR1A):c.909T>C (p.Thr303=) rs1554891026
NM_004329.3(BMPR1A):c.924T>A (p.Ile308=)
NM_004329.3(BMPR1A):c.927T>C (p.Thr309=) rs779691540
NM_004329.3(BMPR1A):c.930T>C (p.Asp310=)
NM_004329.3(BMPR1A):c.933C>T (p.Tyr311=) rs1554891035
NM_004329.3(BMPR1A):c.942T>C (p.Asn314=) rs2133590193
NM_004329.3(BMPR1A):c.945A>G (p.Gly315=)
NM_004329.3(BMPR1A):c.951C>G (p.Leu317=) rs908671564
NM_004329.3(BMPR1A):c.954T>C (p.Tyr318=) rs2133590537
NM_004329.3(BMPR1A):c.969T>C (p.Cys323=) rs1589291609
NM_004329.3(BMPR1A):c.96C>T (p.Gly32=)
NM_004329.3(BMPR1A):c.975A>C (p.Thr325=)
NM_004329.3(BMPR1A):c.975A>T (p.Thr325=)
NM_004329.3(BMPR1A):c.978G>A (p.Leu326=)
NM_004329.3(BMPR1A):c.984C>A (p.Thr328=) rs981282948
NM_004329.3(BMPR1A):c.984C>T (p.Thr328=)
NM_004329.3(BMPR1A):c.990C>G (p.Ala330=) rs199808362
NM_004329.3(BMPR1A):c.990C>T (p.Ala330=) rs199808362
NM_004329.3(BMPR1A):c.991C>T (p.Leu331=)
NM_004329.3(BMPR1A):c.993G>A (p.Leu331=) rs786202827
NM_004329.3(BMPR1A):c.99T>C (p.Thr33=)

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.