ClinVar Miner

List of variants in gene BMPR2 reported by NIHR Bioresource Rare Diseases, University of Cambridge

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Gene type:
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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser) rs373725296 0.00003
NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter) rs765887545 0.00001
NM_001204.7(BMPR2):c.853-2A>G rs863223424 0.00001
NC_000002.12:g.202358678_202383339del
NC_000002.12:g.202361678_202391198del
NC_000002.12:g.202373992_202392940del
NC_000002.12:g.202474607_202528266del
NC_000002.12:g.202477526_202557335del
NC_000002.12:g.202522316_202580009del
NC_000002.12:g.202522780_202538692del
NC_000002.12:g.202538406_202550365del
NM_001204.7(BMPR2):c.100T>C (p.Cys34Arg) rs1085307163
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.1128+2T>G rs1574493841
NM_001204.7(BMPR2):c.1133G>T (p.Gly378Val) rs1574494547
NM_001204.7(BMPR2):c.1178A>G (p.Asn393Ser) rs1574494582
NM_001204.7(BMPR2):c.1202T>C (p.Leu401Ser) rs1085307312
NM_001204.7(BMPR2):c.1217T>G (p.Met406Arg) rs1247070046
NM_001204.7(BMPR2):c.1221T>G (p.Tyr407Ter) rs1085307315
NM_001204.7(BMPR2):c.1228G>C (p.Gly410Arg) rs1085307316
NM_001204.7(BMPR2):c.1242G>A (p.Trp414Ter) rs1574494632
NM_001204.7(BMPR2):c.1245_1246dup (p.Ile416fs) rs1553509997
NM_001204.7(BMPR2):c.1255_1257dup (p.Arg419dup) rs1574494655
NM_001204.7(BMPR2):c.1277-2A>G rs1574499954
NM_001204.7(BMPR2):c.1355_1356dup (p.Val453fs) rs1574500018
NM_001204.7(BMPR2):c.1371dup (p.Gln458fs) rs1085307340
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) rs1060502576
NM_001204.7(BMPR2):c.1413+1G>A rs1085307349
NM_001204.7(BMPR2):c.1413+4638_1586+1016del
NM_001204.7(BMPR2):c.1424C>A (p.Ser475Ter) rs1085307352
NM_001204.7(BMPR2):c.1432G>T (p.Glu478Ter) rs1574505253
NM_001204.7(BMPR2):c.1454A>G (p.Asp485Gly) rs137852745
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.1490_1507del (p.Ala497_Ala502del) rs1574505321
NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer) rs1085307169
NM_001204.7(BMPR2):c.1772G>A (p.Arg591Gln) rs371174955
NM_001204.7(BMPR2):c.1958_1959del (p.Pro653fs) rs1574506729
NM_001204.7(BMPR2):c.1962_1963insGA (p.Cys655fs) rs1574506732
NM_001204.7(BMPR2):c.19del (p.Arg7fs) rs1574415785
NM_001204.7(BMPR2):c.2004del (p.Asp669fs) rs1574506781
NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys) rs1085307177
NM_001204.7(BMPR2):c.2014G>T (p.Glu672Ter) rs1574506790
NM_001204.7(BMPR2):c.2027_2030dup (p.Lys678fs) rs1574506799
NM_001204.7(BMPR2):c.203G>A (p.Gly68Asp) rs1085307180
NM_001204.7(BMPR2):c.2158C>T (p.Gln720Ter) rs1574506914
NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter) rs137852742
NM_001204.7(BMPR2):c.2245dup (p.Gln749fs) rs1574506976
NM_001204.7(BMPR2):c.2372_2373del (p.Met791fs) rs1574507076
NM_001204.7(BMPR2):c.2426dup (p.Ala810fs) rs1574507124
NM_001204.7(BMPR2):c.244C>T (p.Gln82Ter) rs1085307184
NM_001204.7(BMPR2):c.247+136_418+99del
NM_001204.7(BMPR2):c.247+1G>A rs1085307188
NM_001204.7(BMPR2):c.247+804_418+3005del
NM_001204.7(BMPR2):c.2500C>T (p.Gln834Ter) rs1574507215
NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr) rs1085307197
NM_001204.7(BMPR2):c.2533del (p.Glu845fs) rs1574507268
NM_001204.7(BMPR2):c.2542C>T (p.Gln848Ter) rs1574507272
NM_001204.7(BMPR2):c.2548C>T (p.Gln850Ter) rs1574507276
NM_001204.7(BMPR2):c.2558_2559insA (p.Gly853_Glu854insTer) rs1574507290
NM_001204.7(BMPR2):c.2608_2612del (p.Leu870fs) rs1574507331
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.26_41del (p.Trp9fs) rs1574415799
NM_001204.7(BMPR2):c.274del (p.Gln92fs) rs1574464060
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.288T>G (p.Tyr96Ter) rs749485755
NM_001204.7(BMPR2):c.314del (p.Pro105fs) rs1574464121
NM_001204.7(BMPR2):c.344dup (p.Cys116fs) rs1574464150
NM_001204.7(BMPR2):c.346T>C (p.Cys116Arg) rs1574464160
NM_001204.7(BMPR2):c.349T>G (p.Cys117Gly) rs1085307214
NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg) rs137852750
NM_001204.7(BMPR2):c.371dup (p.Asn124fs) rs1085307222
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) rs863223426
NM_001204.7(BMPR2):c.399del (p.Pro134fs) rs1085307223
NM_001204.7(BMPR2):c.408_412del (p.Pro138fs) rs1085307225
NM_001204.7(BMPR2):c.417_418+2del rs1574464226
NM_001204.7(BMPR2):c.418+1G>T rs1085307226
NM_001204.7(BMPR2):c.418+5G>A rs1085307229
NM_001204.7(BMPR2):c.419-5439_622-1285del
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.449dup (p.Ile151fs) rs1085307234
NM_001204.7(BMPR2):c.470C>G (p.Ser157Ter) rs1574485996
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) rs1085307154
NM_001204.7(BMPR2):c.529+2dup rs1574486038
NM_001204.7(BMPR2):c.533_536dup (p.Lys180fs) rs1574486497
NM_001204.7(BMPR2):c.612del (p.Lys204fs) rs1085307246
NM_001204.7(BMPR2):c.619dup (p.Glu207fs) rs1574486566
NM_001204.7(BMPR2):c.621+1G>A rs1553508321
NM_001204.7(BMPR2):c.621+1G>C rs1553508321
NM_001204.7(BMPR2):c.621+428_967+3995del
NM_001204.7(BMPR2):c.622-1G>T rs1574488277
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.657del (p.Gly220fs) rs1574488314
NM_001204.7(BMPR2):c.683del (p.Ala228fs) rs1574488346
NM_001204.7(BMPR2):c.687_693del (p.Lys230fs) rs1574488353
NM_001204.7(BMPR2):c.691del (p.Val231fs) rs1574488357
NM_001204.7(BMPR2):c.76+1G>A rs1085307155
NM_001204.7(BMPR2):c.76+2T>G rs1085307156
NM_001204.7(BMPR2):c.76+5G>A rs1085307157
NM_001204.7(BMPR2):c.761_762del (p.His254fs) rs1574488412
NM_001204.7(BMPR2):c.77-2315_248-646del
NM_001204.7(BMPR2):c.77-3572_418+119del
NM_001204.7(BMPR2):c.793G>T (p.Glu265Ter) rs1414031345
NM_001204.7(BMPR2):c.796_799del (p.Arg266fs) rs1085307261
NM_001204.7(BMPR2):c.823dup (p.Tyr275fs) rs1574488484
NM_001204.7(BMPR2):c.843C>G (p.Tyr281Ter) rs1574488490
NM_001204.7(BMPR2):c.846T>A (p.Tyr282Ter) rs863223419
NM_001204.7(BMPR2):c.852+316_967+2958del
NM_001204.7(BMPR2):c.852_852+1insA rs1574488501
NM_001204.7(BMPR2):c.853-1G>A rs1085307267
NM_001204.7(BMPR2):c.860T>A (p.Leu287Ter) rs576091247
NM_001204.7(BMPR2):c.917A>C (p.His306Pro) rs1574489046
NM_001204.7(BMPR2):c.93_94insT (p.Arg32fs) rs1574462520
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) rs1060502581
NM_001204.7(BMPR2):c.967+4del rs1085307278
NM_001204.7(BMPR2):c.968-1G>T rs1085307282
NM_001204.7(BMPR2):c.992A>G (p.His331Arg) rs1085307285
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) rs137852751
Single allele

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