ClinVar Miner

List of variants in gene BMPR1A reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 195
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HGVS dbSNP
GRCh38/hg38 10q23.2(chr10:86787518-86892381)x1
NM_004329.2(BMPR1A):c.*17G>A rs574861235
NM_004329.2(BMPR1A):c.-132G>C rs925256154
NM_004329.2(BMPR1A):c.-137A>G rs886047360
NM_004329.2(BMPR1A):c.-146dup rs1554886782
NM_004329.2(BMPR1A):c.-147G>A rs1057520242
NM_004329.2(BMPR1A):c.-148C>G rs1057522518
NM_004329.2(BMPR1A):c.-14A>G rs1554886795
NM_004329.2(BMPR1A):c.-152-15A>G rs1554886779
NM_004329.2(BMPR1A):c.-152-186A>G
NM_004329.2(BMPR1A):c.-152-219del
NM_004329.2(BMPR1A):c.-153+18A>C rs994373953
NM_004329.2(BMPR1A):c.-164C>T rs1057522104
NM_004329.2(BMPR1A):c.-20G>A rs528738896
NM_004329.2(BMPR1A):c.-262T>C rs925994606
NM_004329.2(BMPR1A):c.-267-19dup rs1231134447
NM_004329.2(BMPR1A):c.-267-1G>A rs991646270
NM_004329.2(BMPR1A):c.-267-9T>C rs1057520240
NM_004329.2(BMPR1A):c.-267-9del rs960178451
NM_004329.2(BMPR1A):c.-267-9dup rs960178451
NM_004329.2(BMPR1A):c.-268+15C>G rs1057520793
NM_004329.2(BMPR1A):c.-268+20G>A rs896877445
NM_004329.2(BMPR1A):c.-268+225C>T
NM_004329.2(BMPR1A):c.-275G>C rs1554875173
NM_004329.2(BMPR1A):c.-277T>C rs1331916382
NM_004329.2(BMPR1A):c.-283G>A rs888074910
NM_004329.2(BMPR1A):c.-287A>G rs730881438
NM_004329.2(BMPR1A):c.-287A>T rs730881438
NM_004329.2(BMPR1A):c.-43A>G rs757299584
NM_004329.2(BMPR1A):c.-6T>C rs1047677696
NM_004329.2(BMPR1A):c.-8A>G rs546681014
NM_004329.2(BMPR1A):c.1017C>G (p.Ala339=) rs780130011
NM_004329.2(BMPR1A):c.101G>C (p.Gly34Ala) rs730881430
NM_004329.2(BMPR1A):c.1059A>G (p.Gln353=) rs1060503407
NM_004329.2(BMPR1A):c.1068C>T (p.Pro356=) rs759520915
NM_004329.2(BMPR1A):c.1069G>A (p.Ala357Thr) rs201509164
NM_004329.2(BMPR1A):c.1082G>A (p.Arg361Gln) rs730881436
NM_004329.2(BMPR1A):c.1089A>G (p.Leu363=) rs863224393
NM_004329.2(BMPR1A):c.1141C>G (p.Leu381Val) rs864622566
NM_004329.2(BMPR1A):c.1152T>C (p.Ala384=) rs1057520795
NM_004329.2(BMPR1A):c.1166+15G>T rs1554891118
NM_004329.2(BMPR1A):c.1166+19C>T rs1057522268
NM_004329.2(BMPR1A):c.1166G>A (p.Ser389Asn) rs879254049
NM_004329.2(BMPR1A):c.1167-12del rs763184992
NM_004329.2(BMPR1A):c.1167-279T>G
NM_004329.2(BMPR1A):c.1168G>A (p.Asp390Asn) rs1064794827
NM_004329.2(BMPR1A):c.1173A>T (p.Thr391=) rs766032673
NM_004329.2(BMPR1A):c.1175A>G (p.Asn392Ser) rs1554891311
NM_004329.2(BMPR1A):c.117C>G (p.Ser39=) rs757333646
NM_004329.2(BMPR1A):c.118G>A (p.Asp40Asn) rs587781556
NM_004329.2(BMPR1A):c.1191C>G (p.Pro397=) rs751078831
NM_004329.2(BMPR1A):c.1214A>G (p.Lys405Arg) rs1064795593
NM_004329.2(BMPR1A):c.1215A>G (p.Lys405=) rs587781522
NM_004329.2(BMPR1A):c.1216C>T (p.Arg406Cys) rs587781332
NM_004329.2(BMPR1A):c.1217G>A (p.Arg406His) rs587780107
NM_004329.2(BMPR1A):c.1230C>T (p.Pro410=) rs200642188
NM_004329.2(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658
NM_004329.2(BMPR1A):c.1237_1239dup (p.Leu413dup) rs1064795499
NM_004329.2(BMPR1A):c.1242C>T (p.Asp414=) rs767296986
NM_004329.2(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004329.2(BMPR1A):c.1243_1244delinsTTTC (p.Glu415fs) rs1064795654
NM_004329.2(BMPR1A):c.1266C>T (p.Phe422=) rs786202823
NM_004329.2(BMPR1A):c.1296C>T (p.Ser432=) rs1060504907
NM_004329.2(BMPR1A):c.1299C>T (p.Phe433=) rs150946485
NM_004329.2(BMPR1A):c.1300G>A (p.Gly434Ser) rs587780108
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004329.2(BMPR1A):c.1333A>G (p.Ile445Val) rs587781503
NM_004329.2(BMPR1A):c.1342+5G>A rs878854663
NM_004329.2(BMPR1A):c.1342+7G>A rs1057521936
NM_004329.2(BMPR1A):c.1343-230_1343-229insAAA
NM_004329.2(BMPR1A):c.1347C>T (p.Ile449=) rs1057520966
NM_004329.2(BMPR1A):c.1348G>A (p.Val450Met) rs55932635
NM_004329.2(BMPR1A):c.1362A>G (p.Gln454=) rs764090248
NM_004329.2(BMPR1A):c.1368A>G (p.Pro456=) rs864622447
NM_004329.2(BMPR1A):c.1379T>C (p.Met460Thr) rs758309022
NM_004329.2(BMPR1A):c.1386G>A (p.Pro462=) rs751815388
NM_004329.2(BMPR1A):c.1395G>A (p.Pro465=) rs55845713
NM_004329.2(BMPR1A):c.1395G>C (p.Pro465=) rs55845713
NM_004329.2(BMPR1A):c.1401C>T (p.Tyr467=) rs149787558
NM_004329.2(BMPR1A):c.1402G>C (p.Glu468Gln) rs199907158
NM_004329.2(BMPR1A):c.1405G>A (p.Asp469Asn) rs1064794161
NM_004329.2(BMPR1A):c.140G>T (p.Gly47Val) rs368595543
NM_004329.2(BMPR1A):c.1419T>G (p.Val473=) rs145756629
NM_004329.2(BMPR1A):c.1420G>C (p.Val474Leu) rs567733221
NM_004329.2(BMPR1A):c.1432C>T (p.Arg478Cys) rs372178531
NM_004329.2(BMPR1A):c.1433G>A (p.Arg478His) rs113849804
NM_004329.2(BMPR1A):c.1434T>A (p.Arg478=) rs1057521680
NM_004329.2(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.2(BMPR1A):c.143dup (p.Thr49fs) rs1554888114
NM_004329.2(BMPR1A):c.1473+9A>G rs920145716
NM_004329.2(BMPR1A):c.1473A>G (p.Glu491=) rs557832530
NM_004329.2(BMPR1A):c.1474-10T>C rs369633360
NM_004329.2(BMPR1A):c.1474-9A>G rs372031054
NM_004329.2(BMPR1A):c.1480C>T (p.Arg494Ter) rs786201040
NM_004329.2(BMPR1A):c.1491G>A (p.Leu497=) rs1554891647
NM_004329.2(BMPR1A):c.1498A>G (p.Met500Val) rs376651641
NM_004329.2(BMPR1A):c.1532G>C (p.Arg511Thr) rs1064793783
NM_004329.2(BMPR1A):c.1533A>C (p.Arg511Ser) rs730881437
NM_004329.2(BMPR1A):c.1560G>A (p.Thr520=) rs142775086
NM_004329.2(BMPR1A):c.1572G>T (p.Met524Ile) rs1064793404
NM_004329.2(BMPR1A):c.1573G>A (p.Val525Ile) rs769233029
NM_004329.2(BMPR1A):c.191C>T (p.Ser64Leu) rs760515128
NM_004329.2(BMPR1A):c.195G>C (p.Gly65=) rs765437517
NM_004329.2(BMPR1A):c.198C>T (p.His66=) rs150493865
NM_004329.2(BMPR1A):c.214A>G (p.Ile72Val) rs1064795729
NM_004329.2(BMPR1A):c.230+20C>G rs755474277
NM_004329.2(BMPR1A):c.230+20C>T rs755474277
NM_004329.2(BMPR1A):c.231-10dup rs747206781
NM_004329.2(BMPR1A):c.231-33TGTTT[5] rs772231659
NM_004329.2(BMPR1A):c.231-9C>T rs763313220
NM_004329.2(BMPR1A):c.233C>T (p.Thr78Ile) rs1064793490
NM_004329.2(BMPR1A):c.242A>G (p.His81Arg) rs1064793333
NM_004329.2(BMPR1A):c.253A>G (p.Ile85Val) rs374739820
NM_004329.2(BMPR1A):c.262G>T (p.Glu88Ter) rs730881431
NM_004329.2(BMPR1A):c.26G>C (p.Arg9Thr) rs766269417
NM_004329.2(BMPR1A):c.27A>G (p.Arg9=) rs751420248
NM_004329.2(BMPR1A):c.300T>C (p.Cys100=) rs754180012
NM_004329.2(BMPR1A):c.333+332T>G
NM_004329.2(BMPR1A):c.334-11T>C rs1057521072
NM_004329.2(BMPR1A):c.334-7_334-5del rs1182437783
NM_004329.2(BMPR1A):c.33G>A (p.Leu11=) rs535411352
NM_004329.2(BMPR1A):c.359G>A (p.Arg120Gln) rs1060503401
NM_004329.2(BMPR1A):c.360del (p.Thr121fs) rs1064794031
NM_004329.2(BMPR1A):c.369del (p.Glu123fs) rs587780109
NM_004329.2(BMPR1A):c.377G>T (p.Arg126Leu) rs864622549
NM_004329.2(BMPR1A):c.383A>G (p.Asn128Ser) rs375165807
NM_004329.2(BMPR1A):c.40dup (p.Tyr14fs) rs1554886815
NM_004329.2(BMPR1A):c.430+12G>A rs201530603
NM_004329.2(BMPR1A):c.431-13C>A
NM_004329.2(BMPR1A):c.431-5G>T rs587782334
NM_004329.2(BMPR1A):c.474T>C (p.Ile158=) rs759223499
NM_004329.2(BMPR1A):c.478A>G (p.Met160Val) rs145101532
NM_004329.2(BMPR1A):c.47T>G (p.Phe16Cys) rs151235720
NM_004329.2(BMPR1A):c.499A>G (p.Met167Val) rs200951235
NM_004329.2(BMPR1A):c.505A>T (p.Ile169Phe) rs878854668
NM_004329.2(BMPR1A):c.510C>T (p.Phe170=) rs747266339
NM_004329.2(BMPR1A):c.530+13T>G rs367550999
NM_004329.2(BMPR1A):c.560G>A (p.Arg187His) rs189059377
NM_004329.2(BMPR1A):c.562C>T (p.Arg188Cys) rs879254272
NM_004329.2(BMPR1A):c.572G>A (p.Arg191His) rs746231785
NM_004329.2(BMPR1A):c.587A>G (p.Asp196Gly) rs141608069
NM_004329.2(BMPR1A):c.594A>C (p.Ala198=) rs369860867
NM_004329.2(BMPR1A):c.5C>T (p.Pro2Leu) rs143248687
NM_004329.2(BMPR1A):c.605T>C (p.Val202Ala) rs879254158
NM_004329.2(BMPR1A):c.616C>G (p.Leu206Val) rs1064793512
NM_004329.2(BMPR1A):c.618A>G (p.Leu206=) rs55992440
NM_004329.2(BMPR1A):c.629T>C (p.Ile210Thr) rs730881432
NM_004329.2(BMPR1A):c.634C>A (p.Gln212Lys) rs876658138
NM_004329.2(BMPR1A):c.64C>T (p.Gln22Ter) rs1554886821
NM_004329.2(BMPR1A):c.65A>C (p.Gln22Pro) rs747437716
NM_004329.2(BMPR1A):c.675+18A>G rs533369424
NM_004329.2(BMPR1A):c.675+19T>C rs1057522182
NM_004329.2(BMPR1A):c.676-12T>C rs1057520681
NM_004329.2(BMPR1A):c.676-15C>A rs918982108
NM_004329.2(BMPR1A):c.676-186G>A
NM_004329.2(BMPR1A):c.676-19T>G rs1554890725
NM_004329.2(BMPR1A):c.676-6A>C rs186999445
NM_004329.2(BMPR1A):c.676-6A>G rs186999445
NM_004329.2(BMPR1A):c.676G>T (p.Val226Phe) rs587780110
NM_004329.2(BMPR1A):c.676delG rs1064796072
NM_004329.2(BMPR1A):c.68-112A>G
NM_004329.2(BMPR1A):c.68-12A>G rs201120747
NM_004329.2(BMPR1A):c.68-18T>C rs1057521738
NM_004329.2(BMPR1A):c.682C>A (p.Arg228=) rs587782682
NM_004329.2(BMPR1A):c.688A>G (p.Ile230Val) rs730881433
NM_004329.2(BMPR1A):c.697C>T (p.Gln233Ter) rs1554890743
NM_004329.2(BMPR1A):c.712C>G (p.Arg238Gly) rs747728399
NM_004329.2(BMPR1A):c.713G>A (p.Arg238Gln) rs191742018
NM_004329.2(BMPR1A):c.729C>T (p.Gly243=) rs770821763
NM_004329.2(BMPR1A):c.730C>T (p.Arg244Ter) rs759363072
NM_004329.2(BMPR1A):c.733T>A (p.Tyr245Asn) rs369012159
NM_004329.2(BMPR1A):c.749T>C (p.Met250Thr) rs587780783
NM_004329.2(BMPR1A):c.74A>G (p.Asn25Ser) rs1060503410
NM_004329.2(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578
NM_004329.2(BMPR1A):c.762T>C (p.Arg254=) rs372569976
NM_004329.2(BMPR1A):c.777G>A (p.Ala259=) rs56108371
NM_004329.2(BMPR1A):c.786A>G (p.Val262=) rs745728681
NM_004329.2(BMPR1A):c.794C>T (p.Thr265Ile) rs1064793937
NM_004329.2(BMPR1A):c.817C>T (p.Arg273Ter) rs587782400
NM_004329.2(BMPR1A):c.831C>A (p.Ile277=) rs876659520
NM_004329.2(BMPR1A):c.839C>G (p.Thr280Ser) rs1064793497
NM_004329.2(BMPR1A):c.83G>A (p.Ser28Asn) rs371904636
NM_004329.2(BMPR1A):c.868+135C>G
NM_004329.2(BMPR1A):c.869-122C>T
NM_004329.2(BMPR1A):c.869-4A>C rs964020576
NM_004329.2(BMPR1A):c.879G>A (p.Ala293=) rs770203548
NM_004329.2(BMPR1A):c.897A>T (p.Thr299=) rs1057521188
NM_004329.2(BMPR1A):c.911A>G (p.Gln304Arg) rs730881434
NM_004329.2(BMPR1A):c.943G>A (p.Gly315Arg) rs730881435
NM_004329.2(BMPR1A):c.94G>C (p.Gly32Arg) rs755462552
NM_004329.2(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111
NM_004329.2(BMPR1A):c.961C>T (p.Leu321=) rs377412651
NM_004329.2(BMPR1A):c.987A>C (p.Arg329Ser) rs753521037
NM_004329.2(BMPR1A):c.987_992delinsTGTA (p.Arg329fs) rs1554891056
NM_004329.2(BMPR1A):c.995T>C (p.Leu332Pro) rs1064793886

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