ClinVar Miner

List of variants in gene BMPR1A reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 152
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658 0.00014
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490 0.00011
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met) rs55932635 0.00009
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val) rs145101532 0.00007
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) rs200951235 0.00007
NM_004329.3(BMPR1A):c.-20G>A rs528738896 0.00006
NM_004329.3(BMPR1A):c.118G>A (p.Asp40Asn) rs587781556 0.00006
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser) rs750840234 0.00006
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn) rs371904636 0.00005
NM_004329.3(BMPR1A):c.-267-1G>A rs991646270 0.00004
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys) rs587781332 0.00004
NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu) rs368595543 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.563G>A (p.Arg188His) rs749780872 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_004329.3(BMPR1A):c.1420G>C (p.Val474Leu) rs567733221 0.00003
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248 0.00003
NM_004329.3(BMPR1A):c.437T>C (p.Phe146Ser) rs587778112 0.00003
NM_004329.3(BMPR1A):c.569A>G (p.Asn190Ser) rs574229174 0.00003
NM_004329.3(BMPR1A):c.65A>C (p.Gln22Pro) rs747437716 0.00003
NM_004329.3(BMPR1A):c.1048T>C (p.Tyr350His) rs749571434 0.00002
NM_004329.3(BMPR1A):c.119A>C (p.Asp40Ala) rs1060503403 0.00002
NM_004329.3(BMPR1A):c.1300G>A (p.Gly434Ser) rs587780108 0.00002
NM_004329.3(BMPR1A):c.1333A>G (p.Ile445Val) rs587781503 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.731G>A (p.Arg244Gln) rs147971049 0.00002
NM_004329.3(BMPR1A):c.911A>G (p.Gln304Arg) rs730881434 0.00002
NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg) rs755462552 0.00002
NM_004329.3(BMPR1A):c.1069G>A (p.Ala357Thr) rs201509164 0.00001
NM_004329.3(BMPR1A):c.1081C>G (p.Arg361Gly) rs764466442 0.00001
NM_004329.3(BMPR1A):c.1153G>A (p.Val385Ile) rs1060503396 0.00001
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn) rs587781522 0.00001
NM_004329.3(BMPR1A):c.1324C>T (p.Arg442Cys) rs587782496 0.00001
NM_004329.3(BMPR1A):c.1379T>C (p.Met460Thr) rs758309022 0.00001
NM_004329.3(BMPR1A):c.1385C>T (p.Pro462Leu) rs1418504897 0.00001
NM_004329.3(BMPR1A):c.1411C>T (p.Arg471Cys) rs771452619 0.00001
NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys) rs372178531 0.00001
NM_004329.3(BMPR1A):c.1456C>T (p.Arg486Trp) rs767763451 0.00001
NM_004329.3(BMPR1A):c.1481G>A (p.Arg494Gln) rs1204089728 0.00001
NM_004329.3(BMPR1A):c.1513G>A (p.Ala505Thr) rs369966011 0.00001
NM_004329.3(BMPR1A):c.1549A>G (p.Ile517Val) rs754607465 0.00001
NM_004329.3(BMPR1A):c.253A>G (p.Ile85Val) rs374739820 0.00001
NM_004329.3(BMPR1A):c.312A>G (p.Glu104=) rs1199044872 0.00001
NM_004329.3(BMPR1A):c.411A>G (p.Thr137=) rs777389675 0.00001
NM_004329.3(BMPR1A):c.418C>T (p.Pro140Ser) rs138478597 0.00001
NM_004329.3(BMPR1A):c.559C>T (p.Arg187Cys) rs587782231 0.00001
NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys) rs879254272 0.00001
NM_004329.3(BMPR1A):c.572G>A (p.Arg191His) rs746231785 0.00001
NM_004329.3(BMPR1A):c.59G>A (p.Arg20His) rs759014147 0.00001
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu) rs143248687 0.00001
NM_004329.3(BMPR1A):c.634C>A (p.Gln212Lys) rs876658138 0.00001
NM_004329.3(BMPR1A):c.676-3A>C rs587782760 0.00001
NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe) rs587780110 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.730C>G (p.Arg244Gly) rs759363072 0.00001
NM_004329.3(BMPR1A):c.748A>T (p.Met250Leu) rs762087997 0.00001
NM_004329.3(BMPR1A):c.74A>G (p.Asn25Ser) rs1060503410 0.00001
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys) rs750513716 0.00001
NM_004329.3(BMPR1A):c.761G>A (p.Arg254His) rs766908700 0.00001
NM_004329.3(BMPR1A):c.869-4A>C rs964020576 0.00001
NM_004329.3(BMPR1A):c.926C>G (p.Thr309Ser) rs1276976514 0.00001
NM_004329.3(BMPR1A):c.97A>G (p.Thr33Ala) rs748515167 0.00001
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser) rs753521037 0.00001
NM_004329.3(BMPR1A):c.995T>C (p.Leu332Pro) rs1064793886 0.00001
NM_004329.3(BMPR1A):c.101G>C (p.Gly34Ala) rs730881430
NM_004329.3(BMPR1A):c.1082G>A (p.Arg361Gln) rs730881436
NM_004329.3(BMPR1A):c.1098A>C (p.Lys366Asn) rs1060503397
NM_004329.3(BMPR1A):c.1124G>A (p.Ser375Asn) rs2133593667
NM_004329.3(BMPR1A):c.1141C>G (p.Leu381Val) rs864622566
NM_004329.3(BMPR1A):c.114C>G (p.Asp38Glu) rs1021443408
NM_004329.3(BMPR1A):c.1165A>T (p.Ser389Cys) rs1589291828
NM_004329.3(BMPR1A):c.1166+3del
NM_004329.3(BMPR1A):c.1166G>A (p.Ser389Asn) rs879254049
NM_004329.3(BMPR1A):c.1168G>A (p.Asp390Asn) rs1064794827
NM_004329.3(BMPR1A):c.1175A>G (p.Asn392Ser) rs1554891311
NM_004329.3(BMPR1A):c.1194G>C (p.Leu398Phe)
NM_004329.3(BMPR1A):c.1214A>G (p.Lys405Arg) rs1064795593
NM_004329.3(BMPR1A):c.1217G>A (p.Arg406His) rs587780107
NM_004329.3(BMPR1A):c.1217G>T (p.Arg406Leu) rs587780107
NM_004329.3(BMPR1A):c.1237_1239dup (p.Leu413dup) rs1064795499
NM_004329.3(BMPR1A):c.124A>G (p.Lys42Glu) rs786203156
NM_004329.3(BMPR1A):c.1281G>A (p.Met427Ile) rs769212314
NM_004329.3(BMPR1A):c.1318A>G (p.Met440Val) rs1327393432
NM_004329.3(BMPR1A):c.1342+5G>A rs878854663
NM_004329.3(BMPR1A):c.1402G>C (p.Glu468Gln) rs199907158
NM_004329.3(BMPR1A):c.1405G>A (p.Asp469Asn) rs1064794161
NM_004329.3(BMPR1A):c.140G>T (p.Gly47Val) rs368595543
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.3(BMPR1A):c.1450T>A (p.Ser484Thr) rs1554891611
NM_004329.3(BMPR1A):c.1454A>G (p.Asn485Ser) rs2133622136
NM_004329.3(BMPR1A):c.1469A>G (p.Asp490Gly) rs756222157
NM_004329.3(BMPR1A):c.151G>A (p.Ala51Thr) rs1554888117
NM_004329.3(BMPR1A):c.1532G>C (p.Arg511Thr) rs1064793783
NM_004329.3(BMPR1A):c.1533A>C (p.Arg511Ser) rs730881437
NM_004329.3(BMPR1A):c.1568A>G (p.Lys523Arg) rs878854665
NM_004329.3(BMPR1A):c.1572G>T (p.Met524Ile) rs1064793404
NM_004329.3(BMPR1A):c.1573G>A (p.Val525Ile) rs769233029
NM_004329.3(BMPR1A):c.170C>G (p.Pro57Arg) rs1057517610
NM_004329.3(BMPR1A):c.191C>T (p.Ser64Leu) rs760515128
NM_004329.3(BMPR1A):c.205G>C (p.Asp69His)
NM_004329.3(BMPR1A):c.214A>G (p.Ile72Val) rs1064795729
NM_004329.3(BMPR1A):c.215T>C (p.Ile72Thr) rs2133396638
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile) rs1064793490
NM_004329.3(BMPR1A):c.242A>G (p.His81Arg) rs1064793333
NM_004329.3(BMPR1A):c.26G>C (p.Arg9Thr) rs766269417
NM_004329.3(BMPR1A):c.358C>T (p.Arg120Trp) rs779661827
NM_004329.3(BMPR1A):c.359G>A (p.Arg120Gln) rs1060503401
NM_004329.3(BMPR1A):c.376C>T (p.Arg126Trp) rs781258592
NM_004329.3(BMPR1A):c.377G>T (p.Arg126Leu) rs864622549
NM_004329.3(BMPR1A):c.409A>T (p.Thr137Ser) rs1589768079
NM_004329.3(BMPR1A):c.415C>T (p.Pro139Ser) rs772163112
NM_004329.3(BMPR1A):c.431-3C>G rs876659613
NM_004329.3(BMPR1A):c.431G>A (p.Gly144Asp)
NM_004329.3(BMPR1A):c.443A>G (p.Asp148Gly) rs1589768201
NM_004329.3(BMPR1A):c.475T>C (p.Ser159Pro) rs767157505
NM_004329.3(BMPR1A):c.47T>G (p.Phe16Cys) rs151235720
NM_004329.3(BMPR1A):c.496G>A (p.Ala166Thr) rs971636078
NM_004329.3(BMPR1A):c.499A>T (p.Met167Leu) rs200951235
NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu) rs778886055
NM_004329.3(BMPR1A):c.505A>T (p.Ile169Phe) rs878854668
NM_004329.3(BMPR1A):c.51C>T (p.Ile17=)
NM_004329.3(BMPR1A):c.568A>C (p.Asn190His) rs771444196
NM_004329.3(BMPR1A):c.605T>C (p.Val202Ala) rs879254158
NM_004329.3(BMPR1A):c.616C>G (p.Leu206Val) rs1064793512
NM_004329.3(BMPR1A):c.629T>C (p.Ile210Thr) rs730881432
NM_004329.3(BMPR1A):c.640C>A (p.Gln214Lys) rs1305429176
NM_004329.3(BMPR1A):c.675+4A>G rs2133546398
NM_004329.3(BMPR1A):c.676G>A (p.Val226Ile) rs587780110
NM_004329.3(BMPR1A):c.68-13T>C rs1564714744
NM_004329.3(BMPR1A):c.712C>G (p.Arg238Gly) rs747728399
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp) rs747728399
NM_004329.3(BMPR1A):c.718G>A (p.Val240Ile) rs1060503405
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn) rs369012159
NM_004329.3(BMPR1A):c.755A>G (p.Lys252Arg) rs1554890769
NM_004329.3(BMPR1A):c.785T>C (p.Val262Ala) rs770830310
NM_004329.3(BMPR1A):c.794C>T (p.Thr265Ile) rs1064793937
NM_004329.3(BMPR1A):c.797C>G (p.Thr266Ser) rs1554890797
NM_004329.3(BMPR1A):c.79G>T (p.Asp27Tyr) rs1430886611
NM_004329.3(BMPR1A):c.831C>A (p.Ile277=) rs876659520
NM_004329.3(BMPR1A):c.839C>G (p.Thr280Ser) rs1064793497
NM_004329.3(BMPR1A):c.87G>T (p.Met29Ile) rs2133394364
NM_004329.3(BMPR1A):c.917A>G (p.Tyr306Cys) rs955604329
NM_004329.3(BMPR1A):c.92A>C (p.His31Pro) rs1589763313
NM_004329.3(BMPR1A):c.943G>A (p.Gly315Arg) rs730881435
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111
NM_004329.3(BMPR1A):c.964A>G (p.Lys322Glu)
NM_004329.3(BMPR1A):c.967T>C (p.Cys323Arg) rs876660750
NM_004329.3(BMPR1A):c.9G>C (p.Gln3His) rs1589757057

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.