ClinVar Miner

List of variants reported as pathogenic for hypertensive disorder by Rare Disease Genomics Group, St George's University of London

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 370
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569 0.00009
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) rs200948870 0.00004
NM_001204.7(BMPR2):c.1981G>T (p.Glu661Ter) rs759293027 0.00003
NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser) rs373725296 0.00003
NM_001204.7(BMPR2):c.1687G>A (p.Val563Met) rs557172581 0.00002
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter) rs765887545 0.00001
NM_001204.7(BMPR2):c.1771C>T (p.Arg591Ter) rs777458559 0.00001
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) rs863223425 0.00001
NM_001204.7(BMPR2):c.853-2A>G rs863223424 0.00001
NC_000002.12:g.202249539_202474756del225218
NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro) rs1085307417
NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr) rs1085307419
NM_000020.3(ACVRL1):c.1433C>A (p.Ala478Asp) rs1085307425
NM_000020.3(ACVRL1):c.1436G>C (p.Arg479Pro) rs1085307426
NM_000020.3(ACVRL1):c.1450C>G (p.Arg484Gly) rs121909288
NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000020.3(ACVRL1):c.854T>C (p.Leu285Pro) rs1085307411
NM_000020.3(ACVRL1):c.936C>G (p.His312Gln) rs1085307412
NM_000020.3(ACVRL1):c.950T>C (p.Ile317Thr) rs1085307413
NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_001114753.3(ENG):c.1853G>T (p.Arg618Leu) rs1085307436
NM_001204.6(BMPR2):c.(1413+1_1414-1)_(*1_?)del
NM_001204.6(BMPR2):c.(418+1_419-1)_(*1_?)del
NM_001204.6(BMPR2):c.(76+1_77-1)_(*1_?)del
NM_001204.6(BMPR2):c.(?_-1)_(*1_?)del
NM_001204.6(BMPR2):c.(?_-1)_(1128+1_1129-1)del
NM_001204.6(BMPR2):c.(?_-1)_(418+1_419-1)del
NM_001204.6(BMPR2):c.(?_-1)_(529+1_530-1)del
NM_001204.6(BMPR2):c.(?_-1)_(76+1_77-1)del
NM_001204.6(BMPR2):c.(?_-540)_(*1_?)del
NM_001204.6(BMPR2):c.(?_-540)_(76+1_77-1)del
NM_001204.6(BMPR2):c.1277-?_1413+?del
NM_001204.6(BMPR2):c.1277-?_1413+?dup
NM_001204.6(BMPR2):c.1279delG rs1085307333
NM_001204.6(BMPR2):c.1414-?_2866+?del
NM_001204.6(BMPR2):c.248-?_418+?del
NM_001204.6(BMPR2):c.248-?_418+?dup
NM_001204.6(BMPR2):c.419-?_1128+?dup
NM_001204.6(BMPR2):c.419-?_1413+?del
NM_001204.6(BMPR2):c.419-?_529+?del
NM_001204.6(BMPR2):c.419-?_621+?del
NM_001204.6(BMPR2):c.419-?_967+?del
NM_001204.6(BMPR2):c.51_814del
NM_001204.6(BMPR2):c.530-?_621+?del
NM_001204.6(BMPR2):c.530-?_967+?del
NM_001204.6(BMPR2):c.622-?_852+?del
NM_001204.6(BMPR2):c.622-?_967+?del
NM_001204.6(BMPR2):c.77-?_1276+?del
NM_001204.6(BMPR2):c.77-?_247+?dup
NM_001204.6(BMPR2):c.77-?_418+?del
NM_001204.6(BMPR2):c.77-?_418+?dup
NM_001204.6(BMPR2):c.77-?_621+?del
NM_001204.6(BMPR2):c.77-?_967+?dup
NM_001204.6(BMPR2):c.853-?_967+?dup
NM_001204.6(BMPR2):c.968-?_1128+?del
NM_001204.6(BMPR2):c.968-?_1276+?del
NM_001204.6(BMPR2):c.968-?_1413+?dup
NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del
NM_001204.7(BMPR2):c.-947_-946delinsAT rs1085307144
NM_001204.7(BMPR2):c.1001T>G (p.Leu334Ter) rs1085307286
NM_001204.7(BMPR2):c.100T>C (p.Cys34Arg) rs1085307163
NM_001204.7(BMPR2):c.1011_1015del (p.Arg337fs) rs1085307287
NM_001204.7(BMPR2):c.1016T>A (p.Val339Asp) rs1085307288
NM_001204.7(BMPR2):c.1019T>C (p.Leu340Pro) rs1085307289
NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg) rs1085307290
NM_001204.7(BMPR2):c.103del (p.Ala35fs) rs1085307164
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) rs137852744
NM_001204.7(BMPR2):c.1044del (p.Ile349fs) rs1085307291
NM_001204.7(BMPR2):c.1060del (p.Leu354fs) rs1085307292
NM_001204.7(BMPR2):c.1076del (p.Thr359fs) rs1085307294
NM_001204.7(BMPR2):c.1093_1098delinsG (p.Arg365fs) rs1085307295
NM_001204.7(BMPR2):c.1097del (p.Pro366fs) rs1085307296
NM_001204.7(BMPR2):c.1101_1105del (p.Glu368fs) rs1085307297
NM_001204.7(BMPR2):c.1113dup (p.Ala372fs) rs1085307298
NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter) rs1085307301
NM_001204.7(BMPR2):c.1128+1G>A rs863223420
NM_001204.7(BMPR2):c.1128+1G>T rs863223420
NM_001204.7(BMPR2):c.1129-1_1129dup rs1085307302
NM_001204.7(BMPR2):c.1129-3C>G rs748230358
NM_001204.7(BMPR2):c.1141dup (p.Arg381fs) rs1085307303
NM_001204.7(BMPR2):c.1146T>G (p.Tyr382Ter) rs1085307304
NM_001204.7(BMPR2):c.1151C>T (p.Ala384Val) rs1085307305
NM_001204.7(BMPR2):c.1156G>A (p.Glu386Lys) rs1085307306
NM_001204.7(BMPR2):c.1156G>C (p.Glu386Gln) rs1085307306
NM_001204.7(BMPR2):c.1157A>C (p.Glu386Ala) rs1085307307
NM_001204.7(BMPR2):c.1157A>G (p.Glu386Gly) rs1085307307
NM_001204.7(BMPR2):c.1157A>T (p.Glu386Val) rs1085307307
NM_001204.7(BMPR2):c.116del (p.Pro39fs) rs1085307165
NM_001204.7(BMPR2):c.1171G>A (p.Ala391Thr) rs1085307308
NM_001204.7(BMPR2):c.1175T>C (p.Val392Ala) rs1085307309
NM_001204.7(BMPR2):c.1191_1192del (p.Cys397_Glu398delinsTer) rs1085307310
NM_001204.7(BMPR2):c.1196C>G (p.Ser399Ter) rs1085307311
NM_001204.7(BMPR2):c.1202T>C (p.Leu401Ser) rs1085307312
NM_001204.7(BMPR2):c.1207C>T (p.Gln403Ter) rs946132834
NM_001204.7(BMPR2):c.1214del (p.Asp405fs) rs1085307313
NM_001204.7(BMPR2):c.1220A>C (p.Tyr407Ser) rs1085307314
NM_001204.7(BMPR2):c.1221T>G (p.Tyr407Ter) rs1085307315
NM_001204.7(BMPR2):c.1228G>A (p.Gly410Arg) rs1085307316
NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter) rs1085307317
NM_001204.7(BMPR2):c.1243G>T (p.Glu415Ter) rs1085307318
NM_001204.7(BMPR2):c.1245_1246dup (p.Ile416fs) rs1553509997
NM_001204.7(BMPR2):c.1246_1247insG (p.Ile416fs) rs1085307319
NM_001204.7(BMPR2):c.1247_1250delinsGA (p.Ile416fs) rs1085307320
NM_001204.7(BMPR2):c.1248del (p.Phe417fs) rs1085307321
NM_001204.7(BMPR2):c.124C>T (p.Gln42Ter) rs1085307166
NM_001204.7(BMPR2):c.1250_1253del (p.Ile416_Phe417insTer) rs1085307322
NM_001204.7(BMPR2):c.1257A>T (p.Arg419Ser) rs1085307323
NM_001204.7(BMPR2):c.1258T>C (p.Cys420Arg) rs1085307324
NM_001204.7(BMPR2):c.1259G>A (p.Cys420Tyr) rs1085307325
NM_001204.7(BMPR2):c.1268dup (p.Phe424fs) rs1085307326
NM_001204.7(BMPR2):c.1271_1276delinsCGGAGA (p.Phe424_Gly426delinsSerGluArg) rs1085307327
NM_001204.7(BMPR2):c.1274dup (p.Gly426fs) rs1085307328
NM_001204.7(BMPR2):c.1276+1G>A rs767070218
NM_001204.7(BMPR2):c.1276+3A>G rs1085307329
NM_001204.7(BMPR2):c.1276+3A>T rs1085307329
NM_001204.7(BMPR2):c.1276+4A>G rs1085307330
NM_001204.7(BMPR2):c.1276G>C (p.Gly426Arg) rs869025367
NM_001204.7(BMPR2):c.1277-289_1413+4737del
NM_001204.7(BMPR2):c.1277-8A>G rs1085307332
NM_001204.7(BMPR2):c.1277-9A>C rs1085307331
NM_001204.7(BMPR2):c.1277-9A>G rs1085307331
NM_001204.7(BMPR2):c.1285_1286insGGATT (p.Val429fs) rs1085307334
NM_001204.7(BMPR2):c.1293_1300del (p.Glu431fs) rs1085307335
NM_001204.7(BMPR2):c.1296C>G (p.Tyr432Ter) rs1085307336
NM_001204.7(BMPR2):c.1297C>T (p.Gln433Ter) rs137852756
NM_001204.7(BMPR2):c.1313_1316del (p.Thr438fs) rs1085307337
NM_001204.7(BMPR2):c.1346T>G (p.Met449Arg) rs1085307338
NM_001204.7(BMPR2):c.1348C>T (p.Gln450Ter) rs868369541
NM_001204.7(BMPR2):c.1366delinsCA (p.Glu456fs) rs1085307339
NM_001204.7(BMPR2):c.1371del (p.Lys457fs) rs1085307340
NM_001204.7(BMPR2):c.1371dup (p.Gln458fs) rs1085307340
NM_001204.7(BMPR2):c.1376_1377del (p.Arg459fs) rs1085307342
NM_001204.7(BMPR2):c.1387_1388insA (p.Pro463fs) rs1085307343
NM_001204.7(BMPR2):c.1389dup (p.Glu464fs) rs1085307344
NM_001204.7(BMPR2):c.1392del (p.Ala465fs) rs1085307345
NM_001204.7(BMPR2):c.1397G>A (p.Trp466Ter) rs1085307346
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) rs1060502576
NM_001204.7(BMPR2):c.1401del (p.Glu468fs) rs1085307347
NM_001204.7(BMPR2):c.1402G>T (p.Glu468Ter) rs1085307348
NM_001204.7(BMPR2):c.1413+1G>A rs1085307349
NM_001204.7(BMPR2):c.1413+3A>T rs1085307350
NM_001204.7(BMPR2):c.1414-2A>T rs1085307351
NM_001204.7(BMPR2):c.1424C>A (p.Ser475Ter) rs1085307352
NM_001204.7(BMPR2):c.1426_1450del (p.Leu476fs) rs863223422
NM_001204.7(BMPR2):c.1427del (p.Leu476fs) rs1085307353
NM_001204.7(BMPR2):c.1441G>T (p.Glu481Ter) rs937502048
NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter) rs1085307355
NM_001204.7(BMPR2):c.1453G>A (p.Asp485Asn) rs1085307356
NM_001204.7(BMPR2):c.1456C>T (p.Gln486Ter) rs1085307357
NM_001204.7(BMPR2):c.1460A>T (p.Asp487Val) rs1085307358
NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val) rs886039222
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.7(BMPR2):c.1477dup (p.Thr493fs) rs1085307359
NM_001204.7(BMPR2):c.1483C>T (p.Gln495Ter) rs1085307360
NM_001204.7(BMPR2):c.1486T>C (p.Cys496Arg) rs1085307361
NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr) rs1085307362
NM_001204.7(BMPR2):c.1523G>A (p.Trp508Ter) rs780722371
NM_001204.7(BMPR2):c.1525G>T (p.Glu509Ter) rs1085307363
NM_001204.7(BMPR2):c.1535A>C (p.Lys512Thr) rs1085307364
NM_001204.7(BMPR2):c.1557T>A (p.Asn519Lys) rs1085307365
NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer) rs1085307169
NM_001204.7(BMPR2):c.1585del (p.Arg529fs) rs1085307366
NM_001204.7(BMPR2):c.1587-7_1587-4del rs769408722
NM_001204.7(BMPR2):c.1629T>G (p.Tyr543Ter) rs759990771
NM_001204.7(BMPR2):c.168del (p.Thr57fs) rs1085307170
NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter) rs886039219
NM_001204.7(BMPR2):c.16_20del (p.Gln6fs) rs1085307146
NM_001204.7(BMPR2):c.1789C>T (p.Arg597Ter) rs886039673
NM_001204.7(BMPR2):c.178T>C (p.Cys60Arg) rs1085307171
NM_001204.7(BMPR2):c.178T>G (p.Cys60Gly) rs1085307171
NM_001204.7(BMPR2):c.179G>A (p.Cys60Tyr) rs1085307172
NM_001204.7(BMPR2):c.186_187insTACC (p.Gly63fs) rs1553503200
NM_001204.7(BMPR2):c.189_207delinsGGAGCATAATCAAA (p.Ser64fs) rs1085307173
NM_001204.7(BMPR2):c.189_209del (p.Ser64_Trp70del) rs1085307174
NM_001204.7(BMPR2):c.1954_1955dup (p.Val654fs) rs1085307369
NM_001204.7(BMPR2):c.1968dup (p.Gln657fs) rs1085307370
NM_001204.7(BMPR2):c.1969C>T (p.Gln657Ter) rs1085307371
NM_001204.7(BMPR2):c.196T>C (p.Cys66Arg) rs1085307175
NM_001204.7(BMPR2):c.196T>G (p.Cys66Gly) rs1085307175
NM_001204.7(BMPR2):c.1978G>T (p.Glu660Ter) rs1085307372
NM_001204.7(BMPR2):c.197G>A (p.Cys66Tyr) rs1085307176
NM_001204.7(BMPR2):c.2009del (p.Pro670fs) rs1085307373
NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys) rs1085307177
NM_001204.7(BMPR2):c.200dup (p.Tyr67Ter) rs1085307178
NM_001204.7(BMPR2):c.201T>G (p.Tyr67Ter) rs1085307179
NM_001204.7(BMPR2):c.203G>A (p.Gly68Asp) rs1085307180
NM_001204.7(BMPR2):c.2124C>G (p.Tyr708Ter) rs1085307374
NM_001204.7(BMPR2):c.2128del (p.Leu710fs) rs1085307375
NM_001204.7(BMPR2):c.21_29delinsA (p.Pro8fs) rs1085307148
NM_001204.7(BMPR2):c.21del (p.Trp9fs) rs1085307147
NM_001204.7(BMPR2):c.2286del (p.Asn764fs) rs1085307376
NM_001204.7(BMPR2):c.2291dup (p.Asn764fs) rs1085307377
NM_001204.7(BMPR2):c.2297del (p.Thr766fs) rs1085307378
NM_001204.7(BMPR2):c.2303_2309del (p.Glu768fs) rs1085307379
NM_001204.7(BMPR2):c.2308del (p.Arg770fs) rs1085307380
NM_001204.7(BMPR2):c.236_238delinsAAAAGGGGACA (p.Leu79fs) rs1085307181
NM_001204.7(BMPR2):c.237del (p.Leu79_Val80insTer) rs1085307182
NM_001204.7(BMPR2):c.2386del (p.Ala796fs) rs1085307381
NM_001204.7(BMPR2):c.2407_2408insTG (p.Thr803fs) rs1085307382
NM_001204.7(BMPR2):c.240_241insT (p.Lys81Ter) rs1085307183
NM_001204.7(BMPR2):c.2410_2413del (p.Val804fs) rs1085307383
NM_001204.7(BMPR2):c.2413dup (p.Thr805fs) rs1085307384
NM_001204.7(BMPR2):c.2442_2443del (p.His814fs) rs1085307385
NM_001204.7(BMPR2):c.2446_2447dup (p.Asn817fs) rs1085307386
NM_001204.7(BMPR2):c.244C>T (p.Gln82Ter) rs1085307184
NM_001204.7(BMPR2):c.246dup (p.Gly83fs) rs1085307186
NM_001204.7(BMPR2):c.247+1G>A rs1085307188
NM_001204.7(BMPR2):c.247+1_247+7del rs1085307189
NM_001204.7(BMPR2):c.247+2del rs1085307190
NM_001204.7(BMPR2):c.247+6T>G rs1085307191
NM_001204.7(BMPR2):c.247G>A (p.Gly83Arg) rs1085307187
NM_001204.7(BMPR2):c.248-1G>A rs1085307194
NM_001204.7(BMPR2):c.248-2A>G rs1085307193
NM_001204.7(BMPR2):c.248-3T>G rs368090069
NM_001204.7(BMPR2):c.248-592_413delinsGTAAAGTA rs1553503473
NM_001204.7(BMPR2):c.248-5_248delinsAC rs1085307192
NM_001204.7(BMPR2):c.2484del (p.Thr829fs) rs1085307387
NM_001204.7(BMPR2):c.248G>A (p.Gly83Glu) rs1085307195
NM_001204.7(BMPR2):c.2503_2506del (p.Thr835fs) rs1085307389
NM_001204.7(BMPR2):c.2503dup (p.Thr835fs) rs1085307388
NM_001204.7(BMPR2):c.2504del (p.Thr835fs) rs1085307390
NM_001204.7(BMPR2):c.2506_2522del (p.Thr835_Thr836insTer) rs1085307391
NM_001204.7(BMPR2):c.250T>C (p.Cys84Arg) rs1085307196
NM_001204.7(BMPR2):c.250T>G (p.Cys84Gly) rs1085307196
NM_001204.7(BMPR2):c.251G>T (p.Cys84Phe) rs1085307197
NM_001204.7(BMPR2):c.2521_2522dup (p.Arg842fs) rs1085307392
NM_001204.7(BMPR2):c.2527del (p.Ala843fs) rs1085307393
NM_001204.7(BMPR2):c.2533G>T (p.Glu845Ter) rs1085307394
NM_001204.7(BMPR2):c.255G>A (p.Trp85Ter) rs1085307198
NM_001204.7(BMPR2):c.2580del (p.Asn861fs) rs1085307395
NM_001204.7(BMPR2):c.2588G>A (p.Ser863Asn) rs1006246556
NM_001204.7(BMPR2):c.2609del (p.Leu870fs) rs1085307396
NM_001204.7(BMPR2):c.260dup (p.His87fs) rs1085307199
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2620G>T (p.Glu874Ter) rs1085307397
NM_001204.7(BMPR2):c.2626C>T (p.Gln876Ter) rs1085307398
NM_001204.7(BMPR2):c.2668del (p.Arg890fs) rs1085307399
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.2696G>C (p.Arg899Pro) rs137852752
NM_001204.7(BMPR2):c.2730T>A (p.Cys910Ter) rs1085307400
NM_001204.7(BMPR2):c.2737C>T (p.Gln913Ter) rs769603144
NM_001204.7(BMPR2):c.274C>T (p.Gln92Ter) rs1085307201
NM_001204.7(BMPR2):c.2752C>T (p.Gln918Ter) rs1085307401
NM_001204.7(BMPR2):c.277dup (p.Glu93fs) rs1085307202
NM_001204.7(BMPR2):c.2789C>G (p.Ser930Ter) rs1085307402
NM_001204.7(BMPR2):c.27G>A (p.Trp9Ter) rs1085307149
NM_001204.7(BMPR2):c.280T>C (p.Cys94Arg) rs1085307203
NM_001204.7(BMPR2):c.280T>G (p.Cys94Gly) rs1085307203
NM_001204.7(BMPR2):c.28C>T (p.Arg10Trp) rs1085307150
NM_001204.7(BMPR2):c.292G>T (p.Glu98Ter) rs1085307204
NM_001204.7(BMPR2):c.2945A>G (p.Lys982Arg) rs1085307403
NM_001204.7(BMPR2):c.296G>A (p.Cys99Tyr) rs1085307205
NM_001204.7(BMPR2):c.296G>T (p.Cys99Phe) rs1085307205
NM_001204.7(BMPR2):c.320C>G (p.Ser107Ter) rs1085307208
NM_001204.7(BMPR2):c.338A>G (p.Tyr113Cys) rs1085307209
NM_001204.7(BMPR2):c.338dup (p.Tyr113Ter) rs1085307210
NM_001204.7(BMPR2):c.339C>A (p.Tyr113Ter) rs1085307211
NM_001204.7(BMPR2):c.339C>G (p.Tyr113Ter) rs1085307211
NM_001204.7(BMPR2):c.339_340insAA (p.Arg114fs) rs1085307212
NM_001204.7(BMPR2):c.345_346del (p.Phe115fs) rs1085307213
NM_001204.7(BMPR2):c.349T>C (p.Cys117Arg) rs1085307214
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr) rs1085307215
NM_001204.7(BMPR2):c.350G>C (p.Cys117Ser) rs1085307215
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr) rs1085307216
NM_001204.7(BMPR2):c.353del (p.Cys118fs) rs1085307217
NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp) rs137852743
NM_001204.7(BMPR2):c.354_355delinsAG (p.Cys118_Ser119delinsTer) rs1085307218
NM_001204.7(BMPR2):c.355del (p.Ser119fs) rs1085307219
NM_001204.7(BMPR2):c.359_360del (p.Thr120fs) rs1085307220
NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg) rs137852750
NM_001204.7(BMPR2):c.370A>G (p.Asn124Asp) rs1085307221
NM_001204.7(BMPR2):c.371dup (p.Asn124fs) rs1085307222
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) rs863223426
NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter) rs1085307151
NM_001204.7(BMPR2):c.399del (p.Pro134fs) rs1085307223
NM_001204.7(BMPR2):c.39G>A (p.Trp13Ter) rs1085307152
NM_001204.7(BMPR2):c.407_408del (p.Thr136fs) rs1085307224
NM_001204.7(BMPR2):c.408_412del (p.Pro138fs) rs1085307225
NM_001204.7(BMPR2):c.418+1G>C rs1085307226
NM_001204.7(BMPR2):c.418+2_418+4delinsGAG rs1085307227
NM_001204.7(BMPR2):c.418+3A>T rs1085307228
NM_001204.7(BMPR2):c.418+5G>A rs1085307229
NM_001204.7(BMPR2):c.418+5_418+8del rs1085307230
NM_001204.7(BMPR2):c.419-10T>C rs1085307231
NM_001204.7(BMPR2):c.420_421insG (p.Pro141fs) rs1085307232
NM_001204.7(BMPR2):c.435del (p.Phe145fs) rs1085307233
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.449dup (p.Ile151fs) rs1085307234
NM_001204.7(BMPR2):c.47G>A (p.Trp16Ter) rs1085307153
NM_001204.7(BMPR2):c.482T>A (p.Leu161Ter) rs1085307235
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) rs1085307154
NM_001204.7(BMPR2):c.498del (p.Ala167fs) rs1085307236
NM_001204.7(BMPR2):c.503dup (p.Leu168fs) rs1085307237
NM_001204.7(BMPR2):c.507C>A (p.Cys169Ter) rs137852747
NM_001204.7(BMPR2):c.507_510delinsAAA (p.Cys169_Phe170delinsTer) rs1085307238
NM_001204.7(BMPR2):c.516C>G (p.Tyr172Ter) rs1085307239
NM_001204.7(BMPR2):c.528del (p.Gly177fs) rs1085307240
NM_001204.7(BMPR2):c.529+2T>C rs1085307241
NM_001204.7(BMPR2):c.541C>T (p.Gln181Ter) rs1085307242
NM_001204.7(BMPR2):c.551_573del (p.His184fs) rs1085307243
NM_001204.7(BMPR2):c.608_609del (p.Leu203fs) rs1085307245
NM_001204.7(BMPR2):c.612del (p.Lys204fs) rs1085307246
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter) rs886041324
NM_001204.7(BMPR2):c.642T>G (p.Tyr214Ter) rs1085307247
NM_001204.7(BMPR2):c.659dup (p.Ser221fs) rs1085307248
NM_001204.7(BMPR2):c.664_665delinsAAGG (p.Leu222fs) rs1085307249
NM_001204.7(BMPR2):c.673_679del (p.Arg225fs) rs1085307250
NM_001204.7(BMPR2):c.689_690del (p.Lys230fs) rs1085307251
NM_001204.7(BMPR2):c.690A>T (p.Lys230Asn) rs1085307252
NM_001204.7(BMPR2):c.690_691delinsT (p.Lys230fs) rs1085307253
NM_001204.7(BMPR2):c.71C>A (p.Ala24Glu) rs370120266
NM_001204.7(BMPR2):c.727G>A (p.Glu243Lys) rs1085307254
NM_001204.7(BMPR2):c.727G>C (p.Glu243Gln) rs1085307254
NM_001204.7(BMPR2):c.727G>T (p.Glu243Ter) rs1085307254
NM_001204.7(BMPR2):c.76+1G>T rs1085307155
NM_001204.7(BMPR2):c.76+2T>C rs1085307156
NM_001204.7(BMPR2):c.76+5G>A rs1085307157
NM_001204.7(BMPR2):c.77-1G>A rs1085307159
NM_001204.7(BMPR2):c.77-35_86del rs1085307158
NM_001204.7(BMPR2):c.775del (p.Arg259fs) rs1085307255
NM_001204.7(BMPR2):c.782_783del (p.Ile261fs) rs1085307256
NM_001204.7(BMPR2):c.786dup (p.Gly263fs) rs1085307257
NM_001204.7(BMPR2):c.790del (p.Asp264fs) rs1085307258
NM_001204.7(BMPR2):c.794A>G (p.Glu265Gly) rs1085307259
NM_001204.7(BMPR2):c.795_796delinsTT (p.Glu265_Arg266delinsAspTer) rs1085307260
NM_001204.7(BMPR2):c.796_799del (p.Arg266fs) rs1085307261
NM_001204.7(BMPR2):c.802dup (p.Thr268fs) rs1085307262
NM_001204.7(BMPR2):c.804del (p.Ala269fs) rs1085307263
NM_001204.7(BMPR2):c.82C>T (p.Gln28Ter) rs1085307160
NM_001204.7(BMPR2):c.830T>C (p.Leu277Pro) rs1085307265
NM_001204.7(BMPR2):c.852+1G>A rs1085307266
NM_001204.7(BMPR2):c.852+1G>C rs1085307266
NM_001204.7(BMPR2):c.853-1G>A rs1085307267
NM_001204.7(BMPR2):c.853-1G>C rs1085307267
NM_001204.7(BMPR2):c.855del (p.Ser286fs) rs1085307268
NM_001204.7(BMPR2):c.860T>A (p.Leu287Ter) rs576091247
NM_001204.7(BMPR2):c.872T>G (p.Leu291Ter) rs1085307269
NM_001204.7(BMPR2):c.872del (p.Tyr290_Leu291insTer) rs1085307270
NM_001204.7(BMPR2):c.88C>T (p.Gln30Ter) rs1085307161
NM_001204.7(BMPR2):c.893G>A (p.Trp298Ter) rs1085307271
NM_001204.7(BMPR2):c.894_895dup (p.Val299fs) rs1085307272
NM_001204.7(BMPR2):c.91G>T (p.Glu31Ter) rs1085307162
NM_001204.7(BMPR2):c.928A>T (p.Arg310Ter) rs1085307273
NM_001204.7(BMPR2):c.932G>A (p.Gly311Glu) rs1085307274
NM_001204.7(BMPR2):c.937G>C (p.Ala313Pro) rs1085307275
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) rs1060502581
NM_001204.7(BMPR2):c.961del (p.Arg321fs) rs1085307276
NM_001204.7(BMPR2):c.967+2T>C rs1085307277
NM_001204.7(BMPR2):c.967+4del rs1085307278
NM_001204.7(BMPR2):c.967+5G>C rs1085307279
NM_001204.7(BMPR2):c.967+5G>T rs1085307279
NM_001204.7(BMPR2):c.968-1G>T rs1085307282
NM_001204.7(BMPR2):c.968-2A>C rs1085307281
NM_001204.7(BMPR2):c.968-3C>G rs1085307280
NM_001204.7(BMPR2):c.968-5A>G rs1060502584
NM_001204.7(BMPR2):c.969dup (p.His324fs) rs1085307283
NM_001204.7(BMPR2):c.980del (p.Pro327fs) rs1085307284
NM_001204.7(BMPR2):c.992A>G (p.His331Arg) rs1085307285
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) rs137852751
NM_001204.7(BMPR2):c.9dup (p.Ser4fs) rs1085307145
NM_001753.5(CAV1):c.473del (p.Pro158fs) rs879255566
NM_002246.3(KCNK3):c.23C>A (p.Thr8Lys) rs1085307438

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.