ClinVar Miner

List of variants in gene BMPR1A studied for not specified

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Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_004329.3(BMPR1A):c.1343-11T>C rs7074064 0.40534
NM_004329.3(BMPR1A):c.431-26T>A rs7920259 0.06507
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_004329.3(BMPR1A):c.675+12G>A rs12267107 0.04183
NM_004329.3(BMPR1A):c.1342+6A>G rs55763614 0.02404
NM_004329.3(BMPR1A):c.67+46C>T rs73351703 0.01806
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_004329.3(BMPR1A):c.-25A>G rs116346662 0.01322
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=) rs150946485 0.00153
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
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.1419T>G (p.Val473=) rs145756629 0.00058
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_004329.3(BMPR1A):c.430+25G>A rs200416589 0.00040
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.-153+18A>C rs994373953 0.00013
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.1520A>G (p.Asn507Ser) rs750840234 0.00006
NM_004329.3(BMPR1A):c.1167-29A>G rs777122940 0.00004
NM_004329.3(BMPR1A):c.1167-31C>T rs769122446 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.1498A>G (p.Met500Val) rs376651641 0.00004
NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser) rs375165807 0.00004
NM_004329.3(BMPR1A):c.583C>A (p.Gln195Lys) rs771910503 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 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.1420G>C (p.Val474Leu) rs567733221 0.00003
NM_004329.3(BMPR1A):c.198C>T (p.His66=) rs150493865 0.00003
NM_004329.3(BMPR1A):c.430+41T>C rs777675370 0.00003
NM_004329.3(BMPR1A):c.437T>C (p.Phe146Ser) rs587778112 0.00003
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=) rs747266339 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.12A>G (p.Leu4=) rs772729006 0.00002
NM_004329.3(BMPR1A):c.1333A>G (p.Ile445Val) rs587781503 0.00002
NM_004329.3(BMPR1A):c.1343-45G>T rs781280256 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.1569G>A (p.Lys523=) rs876659703 0.00002
NM_004329.3(BMPR1A):c.560G>A (p.Arg187His) rs189059377 0.00002
NM_004329.3(BMPR1A):c.587A>G (p.Asp196Gly) rs141608069 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.911A>G (p.Gln304Arg) rs730881434 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.1152T>C (p.Ala384=) rs1057520795 0.00001
NM_004329.3(BMPR1A):c.1153G>A (p.Val385Ile) rs1060503396 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.1274A>T (p.Tyr425Phe) rs758599378 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.1444A>G (p.Ile482Val) rs974639091 0.00001
NM_004329.3(BMPR1A):c.1536C>T (p.Leu512=) rs758796892 0.00001
NM_004329.3(BMPR1A):c.1549A>G (p.Ile517Val) rs754607465 0.00001
NM_004329.3(BMPR1A):c.230+37G>A rs201927554 0.00001
NM_004329.3(BMPR1A):c.230+49A>G rs1262952075 0.00001
NM_004329.3(BMPR1A):c.418C>T (p.Pro140Ser) rs138478597 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.506_507insTCC (p.Ile169_Phe170insPro) rs763554505 0.00001
NM_004329.3(BMPR1A):c.524G>A (p.Cys175Tyr) rs370091063 0.00001
NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys) rs879254272 0.00001
NM_004329.3(BMPR1A):c.571C>T (p.Arg191Cys) rs1053423400 0.00001
NM_004329.3(BMPR1A):c.572G>A (p.Arg191His) rs746231785 0.00001
NM_004329.3(BMPR1A):c.676-15C>A rs918982108 0.00001
NM_004329.3(BMPR1A):c.676-5T>C rs200537780 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.688A>G (p.Ile230Val) rs730881433 0.00001
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln) rs191742018 0.00001
NM_004329.3(BMPR1A):c.732A>G (p.Arg244=) rs1554890761 0.00001
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr) rs587780783 0.00001
NM_004329.3(BMPR1A):c.761G>A (p.Arg254His) rs766908700 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.818G>A (p.Arg273Gln) rs762178061 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.97A>G (p.Thr33Ala) rs748515167 0.00001
NC_000010.10:g.(?_88635623)_(88683477_?)dup
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.1098A>C (p.Lys366Asn) rs1060503397
NM_004329.3(BMPR1A):c.1101C>T (p.Asn367=) rs863224394
NM_004329.3(BMPR1A):c.1102A>G (p.Ile368Val) rs1589291789
NM_004329.3(BMPR1A):c.1119T>C (p.Asn373=) rs1224219121
NM_004329.3(BMPR1A):c.1166+19C>T rs1057522268
NM_004329.3(BMPR1A):c.1167-12C>A
NM_004329.3(BMPR1A):c.117C>G (p.Ser39=) rs757333646
NM_004329.3(BMPR1A):c.1190C>G (p.Pro397Arg) rs878854662
NM_004329.3(BMPR1A):c.1214A>G (p.Lys405Arg) rs1064795593
NM_004329.3(BMPR1A):c.1251G>A (p.Leu417=) rs1554891336
NM_004329.3(BMPR1A):c.1266C>T (p.Phe422=) rs786202823
NM_004329.3(BMPR1A):c.1280T>C (p.Met427Thr) rs1843667096
NM_004329.3(BMPR1A):c.1281G>A (p.Met427Ile) rs769212314
NM_004329.3(BMPR1A):c.1293C>T (p.Tyr431=) rs1554891344
NM_004329.3(BMPR1A):c.1330T>C (p.Cys444Arg) rs774061725
NM_004329.3(BMPR1A):c.1342+7G>A rs1057521936
NM_004329.3(BMPR1A):c.1347C>A (p.Ile449=) rs1057520966
NM_004329.3(BMPR1A):c.1376A>G (p.Asn459Ser) rs1564725605
NM_004329.3(BMPR1A):c.1380G>C (p.Met460Ile) rs1206243685
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.1438C>T (p.Arg480Trp) rs876658515
NM_004329.3(BMPR1A):c.1457G>A (p.Arg486Gln) rs752802257
NM_004329.3(BMPR1A):c.1473+34C>T
NM_004329.3(BMPR1A):c.1473A>G (p.Glu491=) rs557832530
NM_004329.3(BMPR1A):c.1474-16T>A rs2133623558
NM_004329.3(BMPR1A):c.1474-25C>T
NM_004329.3(BMPR1A):c.1491G>A (p.Leu497=) rs1554891647
NM_004329.3(BMPR1A):c.1528T>C (p.Ser510Pro) rs2133624743
NM_004329.3(BMPR1A):c.1550T>C (p.Ile517Thr) rs1554891667
NM_004329.3(BMPR1A):c.1587T>A (p.Asp529Glu) rs864622175
NM_004329.3(BMPR1A):c.195G>C (p.Gly65=) rs765437517
NM_004329.3(BMPR1A):c.20A>G (p.Tyr7Cys)
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.231-50C>A
NM_004329.3(BMPR1A):c.231-9C>T rs763313220
NM_004329.3(BMPR1A):c.241C>T (p.His81Tyr) rs953797046
NM_004329.3(BMPR1A):c.300T>C (p.Cys100=) rs754180012
NM_004329.3(BMPR1A):c.333+24G>C
NM_004329.3(BMPR1A):c.352C>T (p.Leu118=) rs587782418
NM_004329.3(BMPR1A):c.356G>A (p.Arg119His) rs1554888965
NM_004329.3(BMPR1A):c.384T>C (p.Asn128=) rs2133454210
NM_004329.3(BMPR1A):c.430+10C>T rs863224395
NM_004329.3(BMPR1A):c.431-30A>G
NM_004329.3(BMPR1A):c.431-5G>T rs587782334
NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu) rs778886055
NM_004329.3(BMPR1A):c.530+24C>A
NM_004329.3(BMPR1A):c.530+32T>A rs1288894071
NM_004329.3(BMPR1A):c.530+7A>G rs1060504908
NM_004329.3(BMPR1A):c.541A>G (p.Lys181Glu) rs2133543692
NM_004329.3(BMPR1A):c.563G>T (p.Arg188Leu) rs749780872
NM_004329.3(BMPR1A):c.564T>G (p.Arg188=) rs2133544332
NM_004329.3(BMPR1A):c.588T>A (p.Asp196Glu) rs1564721952
NM_004329.3(BMPR1A):c.594A>C (p.Ala198=) rs369860867
NM_004329.3(BMPR1A):c.620A>G (p.Lys207Arg) rs1554890228
NM_004329.3(BMPR1A):c.67+19T>C rs2133322249
NM_004329.3(BMPR1A):c.67+36A>G
NM_004329.3(BMPR1A):c.67+42A>G
NM_004329.3(BMPR1A):c.675+19T>C rs1057522182
NM_004329.3(BMPR1A):c.676-19T>G rs1554890725
NM_004329.3(BMPR1A):c.676-37C>G
NM_004329.3(BMPR1A):c.676-6A>G rs186999445
NM_004329.3(BMPR1A):c.68-49A>G
NM_004329.3(BMPR1A):c.68-50_68-48del
NM_004329.3(BMPR1A):c.729C>T (p.Gly243=) rs770821763
NM_004329.3(BMPR1A):c.771A>T (p.Lys257Asn)
NM_004329.3(BMPR1A):c.796A>G (p.Thr266Ala) rs1273972467
NM_004329.3(BMPR1A):c.825A>C (p.Thr275=) rs1345972234
NM_004329.3(BMPR1A):c.868+23A>G
NM_004329.3(BMPR1A):c.868+43T>A rs2133578295
NM_004329.3(BMPR1A):c.869-43A>G
NM_004329.3(BMPR1A):c.927T>C (p.Thr309=) rs779691540
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111
NM_004329.3(BMPR1A):c.968G>A (p.Cys323Tyr) rs187780646
NM_004329.3(BMPR1A):c.969_970insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTTCAGACGTGTGCTCTTCCGATCT (p.Cys323_Ala324insArgSerGluGluArgArgValGlyLysGluPheArgArgValLeuPheArgSer)
NM_004329.3(BMPR1A):c.986G>A (p.Arg329Lys) rs1554891054

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