ClinVar Miner

List of variants in gene BMPR2 reported as pathogenic by Invitae

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Gene type:
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Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) rs863223425 0.00001
NC_000002.11:g.(?_203241529)_(203242283_?)del
NC_000002.11:g.(?_203329512)_(203332432_?)del
NC_000002.11:g.(?_203329522)_(203379712_?)del
NC_000002.11:g.(?_203332222)_(203332432_?)del
NC_000002.11:g.(?_203378422)_(203379722_?)del
NC_000002.11:g.(?_203378422)_(203384944_?)del
NC_000002.11:g.(?_203378432)_(203379712_?)del
NC_000002.11:g.(?_203384790)_(203421274_?)del
NC_000002.11:g.(?_203407024)_(203407180_?)del
NC_000002.12:g.(?_202467499)_(202514999_?)del
NC_000002.12:g.(?_202467509)_(202467699_?)del
NC_000002.12:g.(?_202513699)_(202530974_?)del
NC_000002.12:g.(?_202513699)_(202542467_?)del
NC_000002.12:g.(?_202513709)_(202520211_?)del
NC_000002.12:g.(?_202514864)_(202514989_?)del
NC_000002.12:g.(?_202530784)_(202542457_?)del
NM_001204.6(BMPR2):c.77-?_418+?del
NM_001204.7(BMPR2):c.1028dup (p.Asn343fs) rs1688010642
NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg) rs1085307290
NM_001204.7(BMPR2):c.1069del (p.Arg357fs) rs2106018181
NM_001204.7(BMPR2):c.1097del (p.Pro366fs) rs1085307296
NM_001204.7(BMPR2):c.1102G>T (p.Glu368Ter) rs2106018257
NM_001204.7(BMPR2):c.1125_1128+16del rs878854272
NM_001204.7(BMPR2):c.1128+1G>A rs863223420
NM_001204.7(BMPR2):c.1128+1G>C rs863223420
NM_001204.7(BMPR2):c.1129-3C>G rs748230358
NM_001204.7(BMPR2):c.1141dup (p.Arg381fs) rs1085307303
NM_001204.7(BMPR2):c.1142_1143dup (p.Tyr382fs) rs1553509983
NM_001204.7(BMPR2):c.1148del (p.Met383fs) rs1553509984
NM_001204.7(BMPR2):c.1169del (p.Gly390fs)
NM_001204.7(BMPR2):c.1175del (p.Val392fs) rs2106019982
NM_001204.7(BMPR2):c.1206del (p.Lys402fs) rs2106020004
NM_001204.7(BMPR2):c.1207C>T (p.Gln403Ter) rs946132834
NM_001204.7(BMPR2):c.120T>A (p.Tyr40Ter) rs137852755
NM_001204.7(BMPR2):c.1233_1236dup (p.Tyr413fs) rs1688050712
NM_001204.7(BMPR2):c.1259G>A (p.Cys420Tyr) rs1085307325
NM_001204.7(BMPR2):c.1277-1G>A
NM_001204.7(BMPR2):c.1277-2A>G rs1574499954
NM_001204.7(BMPR2):c.1316_1317del (p.Glu439fs)
NM_001204.7(BMPR2):c.1332dup (p.Thr445fs) rs2106030892
NM_001204.7(BMPR2):c.1348C>T (p.Gln450Ter) rs868369541
NM_001204.7(BMPR2):c.135del (p.Gly45_Ile46insTer) rs2105959685
NM_001204.7(BMPR2):c.1372_1373del (p.Gln458fs) rs1688293940
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) rs1060502576
NM_001204.7(BMPR2):c.1414-2A>T rs1085307351
NM_001204.7(BMPR2):c.1426_1450del (p.Leu476fs) rs863223422
NM_001204.7(BMPR2):c.142dup (p.Glu48fs) rs1692288591
NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter) rs1085307355
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.1472G>T (p.Arg491Leu) rs137852749
NM_001204.7(BMPR2):c.1513dup (p.Met505fs) rs1559073178
NM_001204.7(BMPR2):c.1525G>T (p.Glu509Ter) rs1085307363
NM_001204.7(BMPR2):c.1536del (p.Lys512fs) rs1574505369
NM_001204.7(BMPR2):c.1549del (p.Thr517fs)
NM_001204.7(BMPR2):c.1605del (p.Arg535fs)
NM_001204.7(BMPR2):c.1664_1665del (p.Ser555fs) rs1574506470
NM_001204.7(BMPR2):c.1748dup (p.Asn583fs) rs772920507
NM_001204.7(BMPR2):c.186dup (p.Gly63fs) rs863223423
NM_001204.7(BMPR2):c.1922del (p.His641fs)
NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys) rs1085307177
NM_001204.7(BMPR2):c.201T>G (p.Tyr67Ter) rs1085307179
NM_001204.7(BMPR2):c.2132_2133del (p.Ile711fs)
NM_001204.7(BMPR2):c.2158C>T (p.Gln720Ter) rs1574506914
NM_001204.7(BMPR2):c.2202del (p.Pro735fs) rs1688559190
NM_001204.7(BMPR2):c.2216del (p.Pro739fs) rs1574506949
NM_001204.7(BMPR2):c.2291dup (p.Asn764fs) rs1085307377
NM_001204.7(BMPR2):c.2319del (p.Phe773fs)
NM_001204.7(BMPR2):c.2353G>T (p.Glu785Ter)
NM_001204.7(BMPR2):c.2372_2391del (p.Met791fs)
NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs) rs2105712248
NM_001204.7(BMPR2):c.254G>A (p.Trp85Ter)
NM_001204.7(BMPR2):c.2551_2563del (p.Phe851fs)
NM_001204.7(BMPR2):c.2580del (p.Asn861fs) rs1085307395
NM_001204.7(BMPR2):c.260dup (p.His87fs) rs1085307199
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2625del (p.Gln875fs)
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.274del (p.Gln92fs) rs1574464060
NM_001204.7(BMPR2):c.2752C>T (p.Gln918Ter) rs1085307401
NM_001204.7(BMPR2):c.296G>A (p.Cys99Tyr) rs1085307205
NM_001204.7(BMPR2):c.320C>A (p.Ser107Ter) rs1085307208
NM_001204.7(BMPR2):c.338dup (p.Tyr113Ter) rs1085307210
NM_001204.7(BMPR2):c.346del (p.Cys116fs) rs2105962353
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.354T>G (p.Cys118Trp) rs137852743
NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter) rs1085307151
NM_001204.7(BMPR2):c.409dup (p.Thr137fs) rs2105962408
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.443del (p.Asp148fs) rs1687663690
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) rs1085307154
NM_001204.7(BMPR2):c.524del (p.Met174_Leu175insTer) rs2106002172
NM_001204.7(BMPR2):c.595del (p.Asp199fs)
NM_001204.7(BMPR2):c.610A>T (p.Lys204Ter) rs2106003228
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.690_691delinsT (p.Lys230fs) rs1085307253
NM_001204.7(BMPR2):c.76+2T>A
NM_001204.7(BMPR2):c.798_799dup (p.Val267fs)
NM_001204.7(BMPR2):c.860T>G (p.Leu287Ter)
NM_001204.7(BMPR2):c.871_872dup (p.Leu291fs)
NM_001204.7(BMPR2):c.894G>A (p.Trp298Ter) rs2106008336
NM_001204.7(BMPR2):c.897_903del (p.Ser300fs) rs2106008354
NM_001204.7(BMPR2):c.91G>T (p.Glu31Ter) rs1085307162
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) rs1060502581
NM_001204.7(BMPR2):c.961del (p.Arg321fs) rs1085307276
NM_001204.7(BMPR2):c.969dup (p.His324fs) rs1085307283
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) rs137852751

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