ClinVar Miner

List of variants in gene BMPR1A reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.-152-186A>G rs12777504 0.02283
NM_004329.3(BMPR1A):c.-268+5965G>A rs7902641 0.01514
NM_004329.3(BMPR1A):c.-268+8154G>A rs34031688 0.01333
NM_004329.3(BMPR1A):c.-268+1138T>A rs73346154 0.01256
NM_004329.3(BMPR1A):c.-268+5565G>A rs73346157 0.01256
NM_004329.3(BMPR1A):c.-268+11573T>C rs73346168 0.01252
NM_004329.3(BMPR1A):c.-268+9278G>T rs117240448 0.01224
NM_004329.3(BMPR1A):c.-268+11686T>C rs12772861 0.01195
NM_004329.3(BMPR1A):c.-268+6822T>C rs181768349 0.01064
NM_004329.3(BMPR1A):c.-268+4609T>G rs113012039 0.00907
NM_004329.3(BMPR1A):c.-268+10145C>T rs147037557 0.00868
NM_004329.3(BMPR1A):c.676-186G>A rs113037361 0.00605
NM_004329.3(BMPR1A):c.-268+225C>T rs79181991 0.00448
NM_004329.3(BMPR1A):c.*83A>T rs563960199 0.00406
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.676-6A>C rs186999445 0.00014
NM_004329.3(BMPR1A):c.-153+18A>C rs994373953 0.00013
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=) rs535411352 0.00009
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.1474-9A>G rs372031054 0.00004
NM_004329.3(BMPR1A):c.-137A>G rs886047360 0.00003
NM_004329.3(BMPR1A):c.-147G>A rs1057520242 0.00003
NM_004329.3(BMPR1A):c.117C>T (p.Ser39=) rs757333646 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.68-12A>G rs201120747 0.00003
NM_004329.3(BMPR1A):c.-262T>C rs925994606 0.00002
NM_004329.3(BMPR1A):c.-8A>G rs546681014 0.00002
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.1368A>G (p.Pro456=) rs864622447 0.00002
NM_004329.3(BMPR1A):c.1473+9A>G rs920145716 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.-132G>C rs925256154 0.00001
NM_004329.3(BMPR1A):c.-14A>G rs1554886795 0.00001
NM_004329.3(BMPR1A):c.-267-9T>C rs1057520240 0.00001
NM_004329.3(BMPR1A):c.-43A>G rs757299584 0.00001
NM_004329.3(BMPR1A):c.-6T>C rs1047677696 0.00001
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=) rs1060503407 0.00001
NM_004329.3(BMPR1A):c.1089A>G (p.Leu363=) rs863224393 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.1173A>T (p.Thr391=) rs766032673 0.00001
NM_004329.3(BMPR1A):c.1191C>G (p.Pro397=) rs751078831 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.1347C>T (p.Ile449=) rs1057520966 0.00001
NM_004329.3(BMPR1A):c.1362A>G (p.Gln454=) rs764090248 0.00001
NM_004329.3(BMPR1A):c.183C>T (p.Cys61=) rs140610221 0.00001
NM_004329.3(BMPR1A):c.230+37G>A rs201927554 0.00001
NM_004329.3(BMPR1A):c.294A>G (p.Ser98=) rs764466269 0.00001
NM_004329.3(BMPR1A):c.430+12G>A rs201530603 0.00001
NM_004329.3(BMPR1A):c.474T>C (p.Ile158=) rs759223499 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.68-18T>C rs1057521738 0.00001
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr) rs587780783 0.00001
NM_004329.3(BMPR1A):c.786A>G (p.Val262=) rs745728681 0.00001
NM_004329.3(BMPR1A):c.897A>T (p.Thr299=) rs1057521188 0.00001
NM_004329.3(BMPR1A):c.*17G>A rs574861235
NM_004329.3(BMPR1A):c.-146dup rs1554886782
NM_004329.3(BMPR1A):c.-148C>G rs1057522518
NM_004329.3(BMPR1A):c.-152-15A>G rs1554886779
NM_004329.3(BMPR1A):c.-164C>T rs1057522104
NM_004329.3(BMPR1A):c.-267-19dup rs1231134447
NM_004329.3(BMPR1A):c.-267-9del rs960178451
NM_004329.3(BMPR1A):c.-267-9dup rs960178451
NM_004329.3(BMPR1A):c.-268+1463_-268+1465dup rs200528013
NM_004329.3(BMPR1A):c.-268+1817T>C rs61858563
NM_004329.3(BMPR1A):c.-268+5418G>C
NM_004329.3(BMPR1A):c.-268+7545_-268+7547del rs200331993
NM_004329.3(BMPR1A):c.-268+8564C>A rs1487527902
NM_004329.3(BMPR1A):c.1166+19C>T rs1057522268
NM_004329.3(BMPR1A):c.1166+222_1166+224del rs553807229
NM_004329.3(BMPR1A):c.1167-12del rs763184992
NM_004329.3(BMPR1A):c.117C>G (p.Ser39=) rs757333646
NM_004329.3(BMPR1A):c.1215A>G (p.Lys405=) rs587781522
NM_004329.3(BMPR1A):c.1266C>T (p.Phe422=) rs786202823
NM_004329.3(BMPR1A):c.1342+7G>A rs1057521936
NM_004329.3(BMPR1A):c.1386G>A (p.Pro462=) rs751815388
NM_004329.3(BMPR1A):c.1395G>A (p.Pro465=) rs55845713
NM_004329.3(BMPR1A):c.1434T>A (p.Arg478=) rs1057521680
NM_004329.3(BMPR1A):c.1449G>T (p.Val483=) rs759740989
NM_004329.3(BMPR1A):c.1473+6dup rs1437595171
NM_004329.3(BMPR1A):c.1473A>G (p.Glu491=) rs557832530
NM_004329.3(BMPR1A):c.148T>C (p.Leu50=) rs964544915
NM_004329.3(BMPR1A):c.1491G>A (p.Leu497=) rs1554891647
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.230+20C>G rs755474277
NM_004329.3(BMPR1A):c.230+20C>T rs755474277
NM_004329.3(BMPR1A):c.231-10dup rs747206781
NM_004329.3(BMPR1A):c.231-33TGTTT[5] rs772231659
NM_004329.3(BMPR1A):c.231-9C>T rs763313220
NM_004329.3(BMPR1A):c.300T>C (p.Cys100=) rs754180012
NM_004329.3(BMPR1A):c.334-11T>C rs1057521072
NM_004329.3(BMPR1A):c.334-7_334-5del rs1182437783
NM_004329.3(BMPR1A):c.431-13C>A rs1589768162
NM_004329.3(BMPR1A):c.431-5G>T rs587782334
NM_004329.3(BMPR1A):c.594A>C (p.Ala198=) rs369860867
NM_004329.3(BMPR1A):c.675+19T>C rs1057522182
NM_004329.3(BMPR1A):c.676-130del rs112738256
NM_004329.3(BMPR1A):c.676-19T>G rs1554890725
NM_004329.3(BMPR1A):c.676-6A>G rs186999445
NM_004329.3(BMPR1A):c.729C>T (p.Gly243=) rs770821763
NM_004329.3(BMPR1A):c.869-280C>G rs11202259
NM_004329.3(BMPR1A):c.90T>C (p.Leu30=) rs1564714758

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