ClinVar Miner

List of variants in gene BMPR2 studied for not provided

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Gene type:
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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_001204.7(BMPR2):c.2866+228C>T rs6435155 0.45793
NM_001204.7(BMPR2):c.530-221G>A rs34979312 0.12885
NM_001204.7(BMPR2):c.418+212A>C rs71425943 0.12016
NM_001204.7(BMPR2):c.1277-179A>C rs77090459 0.09149
NM_001204.7(BMPR2):c.2811G>A (p.Arg937=) rs1061157 0.08705
NM_001204.7(BMPR2):c.247+248A>G rs6742403 0.08094
NM_001204.7(BMPR2):c.1587-116A>G rs17199235 0.08079
NM_001204.7(BMPR2):c.1586+172T>A rs17199228 0.07596
NM_001204.7(BMPR2):c.1277-295C>T rs10201307 0.05315
NM_001204.7(BMPR2):c.1413+318C>T rs74924503 0.05003
NM_001204.7(BMPR2):c.1586+290A>G rs112972072 0.04502
NM_001204.7(BMPR2):c.853-21dup rs11464745 0.04307
NM_001204.7(BMPR2):c.2866+189G>C rs111605810 0.04007
NM_001204.7(BMPR2):c.1129-236G>T rs73990297 0.03753
NM_001204.7(BMPR2):c.418+82G>A rs76651977 0.02858
NM_001204.7(BMPR2):c.418+55A>G rs75813650 0.02855
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
NM_001204.7(BMPR2):c.600A>C (p.Leu200=) rs55722784 0.01458
NM_001204.7(BMPR2):c.852+88T>C rs41271467 0.01026
NM_001204.7(BMPR2):c.-301G>A rs116154690 0.00917
NM_001204.7(BMPR2):c.852+63A>T rs13420557 0.00676
NM_001204.7(BMPR2):c.-927A>G rs530181389 0.00636
NM_001204.7(BMPR2):c.-924A>G rs1231549120 0.00527
NM_001204.7(BMPR2):c.-921A>G rs1258082627 0.00510
NM_001204.7(BMPR2):c.*5243T>C rs187619865 0.00322
NM_001204.7(BMPR2):c.63C>T (p.Val21=) rs149973695 0.00040
NM_001204.7(BMPR2):c.2948G>A (p.Arg983Gln) rs148099152 0.00031
NM_001204.7(BMPR2):c.674G>A (p.Arg225His) rs148682262 0.00026
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_001204.7(BMPR2):c.2887G>T (p.Gly963Cys) rs146027217 0.00014
NM_001204.7(BMPR2):c.2186G>C (p.Gly729Ala) rs201816099 0.00005
NM_001204.7(BMPR2):c.2228A>G (p.Tyr743Cys) rs148257675 0.00004
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) rs200948870 0.00004
NM_001204.7(BMPR2):c.9C>A (p.Ser3=) rs549281044 0.00002
NM_001204.7(BMPR2):c.1356C>T (p.Leu452=) rs1254220092 0.00001
NM_001204.7(BMPR2):c.136A>G (p.Ile46Val) rs759804753 0.00001
NM_001204.7(BMPR2):c.1545C>T (p.Ser515=) rs762746699 0.00001
NM_001204.7(BMPR2):c.276A>C (p.Gln92His) rs140683387 0.00001
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) rs863223425 0.00001
NM_001204.7(BMPR2):c.853-2A>G rs863223424 0.00001
GRCh37/hg19 2q33.1(chr2:203173085-203279249)x4
GRCh37/hg19 2q33.1-33.2(chr2:203248979-203361273)x3
NM_001204.7(BMPR2):c.*309del rs372583015
NM_001204.7(BMPR2):c.-212dup rs576966565
NM_001204.7(BMPR2):c.1028del (p.Asn343fs) rs1688010642
NM_001204.7(BMPR2):c.104C>T (p.Ala35Val)
NM_001204.7(BMPR2):c.1053C>T (p.Asp351=)
NM_001204.7(BMPR2):c.1087C>G (p.Leu363Val) rs781018234
NM_001204.7(BMPR2):c.1091del (p.Val364fs) rs2106018209
NM_001204.7(BMPR2):c.1097del (p.Pro366fs) rs1085307296
NM_001204.7(BMPR2):c.1126G>A (p.Glu376Lys) rs1085307301
NM_001204.7(BMPR2):c.1128+1G>A rs863223420
NM_001204.7(BMPR2):c.1128+1G>C rs863223420
NM_001204.7(BMPR2):c.1250T>G (p.Phe417Cys)
NM_001204.7(BMPR2):c.1277-189del rs767970972
NM_001204.7(BMPR2):c.12del (p.Leu5fs) rs1690174710
NM_001204.7(BMPR2):c.1342del (p.Asp448fs) rs1559070248
NM_001204.7(BMPR2):c.1361C>T (p.Ser454Phe) rs1347010932
NM_001204.7(BMPR2):c.1376_1377del (p.Arg459fs) rs1085307342
NM_001204.7(BMPR2):c.1379C>G (p.Pro460Arg) rs1574500050
NM_001204.7(BMPR2):c.1414-37dup rs539397286
NM_001204.7(BMPR2):c.1427T>G (p.Leu476Arg) rs1057522712
NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter) rs1085307355
NM_001204.7(BMPR2):c.1459G>T (p.Asp487Tyr) rs863223421
NM_001204.7(BMPR2):c.146del (p.Ser49fs) rs2105959713
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.1487G>A (p.Cys496Tyr) rs1085307362
NM_001204.7(BMPR2):c.1535A>G (p.Lys512Arg) rs1085307364
NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer) rs1085307169
NM_001204.7(BMPR2):c.1659A>G (p.Glu553=) rs1688545784
NM_001204.7(BMPR2):c.1789C>T (p.Arg597Ter) rs886039673
NM_001204.7(BMPR2):c.186dup (p.Gly63fs) rs863223423
NM_001204.7(BMPR2):c.1981G>C (p.Glu661Gln)
NM_001204.7(BMPR2):c.199T>C (p.Tyr67His) rs1559046623
NM_001204.7(BMPR2):c.2042C>G (p.Ser681Cys)
NM_001204.7(BMPR2):c.2164G>T (p.Asp722Tyr) rs1553512801
NM_001204.7(BMPR2):c.2169C>A (p.Phe723Leu)
NM_001204.7(BMPR2):c.2216del (p.Pro739fs) rs1574506949
NM_001204.7(BMPR2):c.2569del (p.Arg857fs) rs1688568929
NM_001204.7(BMPR2):c.2577T>C (p.Asn859=) rs1236150964
NM_001204.7(BMPR2):c.2580del (p.Asn861fs) rs1085307395
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2693G>A (p.Gly898Asp) rs2105712608
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.2797A>T (p.Arg933Ter) rs766741057
NM_001204.7(BMPR2):c.3108delinsAGT (p.Asn1036fs)
NM_001204.7(BMPR2):c.319T>C (p.Ser107Pro) rs1085307207
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr) rs1085307216
NM_001204.7(BMPR2):c.369del (p.Leu122_Cys123insTer) rs2105962382
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) rs863223426
NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter) rs1085307151
NM_001204.7(BMPR2):c.419-38T>A
NM_001204.7(BMPR2):c.419-38del rs10714063
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.529+64C>T rs7575056
NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg) rs1574486033
NM_001204.7(BMPR2):c.541C>T (p.Gln181Ter) rs1085307242
NM_001204.7(BMPR2):c.621+103C>G rs77506341
NM_001204.7(BMPR2):c.621+37C>G rs78779412
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.689_690del (p.Lys230fs) rs1085307251
NM_001204.7(BMPR2):c.712C>T (p.Gln238Ter) rs1559062859
NM_001204.7(BMPR2):c.796_799del (p.Arg266fs) rs1085307261
NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter) rs863223419
NM_001204.7(BMPR2):c.853-22dup rs11390605
NM_001204.7(BMPR2):c.853-23_853-22dup rs11390605
NM_001204.7(BMPR2):c.853-98C>G rs3736578
NM_001204.7(BMPR2):c.862dup (p.Cys288fs)
NM_001204.7(BMPR2):c.895del (p.Trp298_Val299insTer)
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) rs1060502581
NM_001204.7(BMPR2):c.967+17A>C rs2106008516
NM_001204.7(BMPR2):c.968-123_968-121del rs67365959
NM_001204.7(BMPR2):c.968-3C>G rs1085307280
NM_001204.7(BMPR2):c.968-5A>G rs1060502584
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) rs137852751

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