ClinVar Miner

List of variants in gene BMPR1B studied for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 191
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001203.3(BMPR1B):c.*141C>T rs1434536 0.45277
NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) rs56083112 0.00784
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) rs138801821 0.00280
NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=) rs140430323 0.00163
NM_001203.3(BMPR1B):c.586-18T>G rs80218727 0.00115
NM_001203.3(BMPR1B):c.671G>A (p.Arg224His) rs35973133 0.00081
NM_001203.3(BMPR1B):c.1065T>A (p.Val355=) rs139872191 0.00064
NM_001203.3(BMPR1B):c.247-9C>T rs199892209 0.00048
NM_001203.3(BMPR1B):c.1384-8T>C rs201359647 0.00041
NM_001203.3(BMPR1B):c.430T>C (p.Leu144=) rs55980670 0.00031
NM_001203.3(BMPR1B):c.300C>T (p.Asn100=) rs140499888 0.00030
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) rs150974461 0.00026
NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp) rs34231464 0.00024
NM_001203.3(BMPR1B):c.74C>G (p.Pro25Arg) rs145700191 0.00019
NM_001203.3(BMPR1B):c.1076+18C>T rs376107447 0.00017
NM_001203.3(BMPR1B):c.92G>A (p.Arg31His) rs200035802 0.00015
NM_001203.3(BMPR1B):c.769A>G (p.Asn257Asp) rs201034260 0.00014
NM_001203.3(BMPR1B):c.838G>A (p.Asp280Asn) rs551370449 0.00014
NM_001203.3(BMPR1B):c.901A>G (p.Met301Val) rs199613098 0.00014
NM_001203.3(BMPR1B):c.523T>C (p.Ser175Pro) rs143554488 0.00013
NM_001203.3(BMPR1B):c.1075A>G (p.Ser359Gly) rs201289177 0.00012
NM_001203.3(BMPR1B):c.1076+20A>G rs202089229 0.00012
NM_001203.3(BMPR1B):c.909G>A (p.Lys303=) rs373401690 0.00012
NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu) rs376819253 0.00010
NM_001203.3(BMPR1B):c.150C>T (p.Asp50=) rs147320212 0.00009
NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr) rs143885868 0.00009
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile) rs200083866 0.00009
NM_001203.3(BMPR1B):c.891C>T (p.Asp297=) rs112111860 0.00009
NM_001203.3(BMPR1B):c.1035T>G (p.Thr345=) rs760647140 0.00008
NM_001203.3(BMPR1B):c.1367G>A (p.Arg456Gln) rs140047318 0.00008
NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr) rs373000965 0.00008
NM_001203.3(BMPR1B):c.1443G>A (p.Arg481=) rs375459734 0.00007
NM_001203.3(BMPR1B):c.1366C>T (p.Arg456Trp) rs780280883 0.00006
NM_001203.3(BMPR1B):c.229T>G (p.Ser77Ala) rs200702974 0.00006
NM_001203.3(BMPR1B):c.289A>G (p.Thr97Ala) rs759423600 0.00006
NM_001203.3(BMPR1B):c.831A>G (p.Leu277=) rs543232420 0.00006
NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp) rs778257341 0.00004
NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu) rs1346115955 0.00004
NM_001203.3(BMPR1B):c.580C>G (p.Leu194Val) rs757843329 0.00004
NM_001203.3(BMPR1B):c.745C>G (p.Gln249Glu) rs142696562 0.00004
NM_001203.3(BMPR1B):c.895A>G (p.Lys299Glu) rs762320529 0.00004
NM_001203.3(BMPR1B):c.778+17A>G rs373361964 0.00003
NM_001203.3(BMPR1B):c.1152C>T (p.Asp384=) rs375476260 0.00002
NM_001203.3(BMPR1B):c.1353C>A (p.Pro451=) rs551844397 0.00002
NM_001203.3(BMPR1B):c.147A>G (p.Thr49=) rs756055104 0.00002
NM_001203.3(BMPR1B):c.334C>T (p.Pro112Ser) rs1225550138 0.00002
NM_001203.3(BMPR1B):c.670C>T (p.Arg224Cys) rs777745046 0.00002
NM_001203.3(BMPR1B):c.734C>A (p.Thr245Lys) rs751532146 0.00002
NM_001203.3(BMPR1B):c.829C>G (p.Leu277Val) rs755942515 0.00002
NM_001203.3(BMPR1B):c.897A>G (p.Lys299=) rs760837301 0.00002
NM_001203.3(BMPR1B):c.907A>C (p.Lys303Gln) rs370428276 0.00002
NM_001203.3(BMPR1B):c.1081A>G (p.Thr361Ala) rs1179983257 0.00001
NM_001203.3(BMPR1B):c.1082C>A (p.Thr361Lys) rs1416896677 0.00001
NM_001203.3(BMPR1B):c.1100C>G (p.Pro367Arg) rs1284054241 0.00001
NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) rs577188671 0.00001
NM_001203.3(BMPR1B):c.1174T>G (p.Phe392Val) rs1464900722 0.00001
NM_001203.3(BMPR1B):c.1235G>A (p.Arg412Lys) rs561948192 0.00001
NM_001203.3(BMPR1B):c.15T>G (p.Ser5Arg) rs1466418430 0.00001
NM_001203.3(BMPR1B):c.18A>G (p.Ala6=) rs536960015 0.00001
NM_001203.3(BMPR1B):c.214C>T (p.Leu72=) rs759149974 0.00001
NM_001203.3(BMPR1B):c.247-4A>G rs570808649 0.00001
NM_001203.3(BMPR1B):c.358G>A (p.Asp120Asn) rs1422671894 0.00001
NM_001203.3(BMPR1B):c.370C>T (p.His124Tyr) rs759803347 0.00001
NM_001203.3(BMPR1B):c.391T>A (p.Ser131Thr) rs561117066 0.00001
NM_001203.3(BMPR1B):c.468A>G (p.Arg156=) rs775608689 0.00001
NM_001203.3(BMPR1B):c.508A>G (p.Ile170Val) rs778170724 0.00001
NM_001203.3(BMPR1B):c.555C>T (p.Ser185=) rs1243705403 0.00001
NM_001203.3(BMPR1B):c.586-9A>T rs1034497183 0.00001
NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu) rs766791531 0.00001
NM_001203.3(BMPR1B):c.72C>G (p.Thr24=) rs148603233 0.00001
NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser) rs200198618 0.00001
NM_001203.3(BMPR1B):c.771C>T (p.Asn257=) rs763144778 0.00001
NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg) rs757312834 0.00001
NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg) rs773095683 0.00001
NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr) rs1177728492 0.00001
NC_000004.11:g.(?_96069879)_(96075824_?)dup
NM_001203.3(BMPR1B):c.-17-52823C>T
NM_001203.3(BMPR1B):c.1012A>G (p.Ile338Val)
NM_001203.3(BMPR1B):c.1023G>C (p.Lys341Asn)
NM_001203.3(BMPR1B):c.1035T>A (p.Thr345=) rs760647140
NM_001203.3(BMPR1B):c.1077-6C>G
NM_001203.3(BMPR1B):c.1093G>A (p.Asp365Asn)
NM_001203.3(BMPR1B):c.1094A>G (p.Asp365Gly)
NM_001203.3(BMPR1B):c.1097T>C (p.Ile366Thr)
NM_001203.3(BMPR1B):c.1101A>T (p.Pro367=)
NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln) rs34970181
NM_001203.3(BMPR1B):c.1112G>T (p.Arg371Leu) rs34970181
NM_001203.3(BMPR1B):c.1118G>A (p.Gly373Asp) rs2149325883
NM_001203.3(BMPR1B):c.1171C>T (p.His391Tyr)
NM_001203.3(BMPR1B):c.1190T>C (p.Met397Thr)
NM_001203.3(BMPR1B):c.1190T>G (p.Met397Arg) rs1734835445
NM_001203.3(BMPR1B):c.1228G>T (p.Val410Phe)
NM_001203.3(BMPR1B):c.1234A>G (p.Arg412Gly) rs1190618723
NM_001203.3(BMPR1B):c.1238G>C (p.Arg413Thr)
NM_001203.3(BMPR1B):c.1239A>T (p.Arg413Ser)
NM_001203.3(BMPR1B):c.1252+410A>G
NM_001203.3(BMPR1B):c.1323G>A (p.Arg441=) rs2149330585
NM_001203.3(BMPR1B):c.1347A>G (p.Leu449=)
NM_001203.3(BMPR1B):c.1365C>T (p.Asn455=)
NM_001203.3(BMPR1B):c.1367G>T (p.Arg456Leu)
NM_001203.3(BMPR1B):c.1384-6C>T
NM_001203.3(BMPR1B):c.1385G>T (p.Cys462Phe)
NM_001203.3(BMPR1B):c.1393C>T (p.Gln465Ter)
NM_001203.3(BMPR1B):c.1394A>G (p.Gln465Arg)
NM_001203.3(BMPR1B):c.1396A>T (p.Met466Leu)
NM_001203.3(BMPR1B):c.1400G>C (p.Gly467Ala)
NM_001203.3(BMPR1B):c.1411A>G (p.Thr471Ala) rs752827445
NM_001203.3(BMPR1B):c.1434T>A (p.Pro478=) rs144080146
NM_001203.3(BMPR1B):c.1434T>C (p.Pro478=) rs144080146
NM_001203.3(BMPR1B):c.144-17G>A rs376913841
NM_001203.3(BMPR1B):c.1498A>G (p.Ile500Val)
NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg) rs863225041
NM_001203.3(BMPR1B):c.21A>G (p.Gly7=) rs2149265435
NM_001203.3(BMPR1B):c.244C>T (p.Arg82Trp) rs2149277836
NM_001203.3(BMPR1B):c.246+10A>T
NM_001203.3(BMPR1B):c.247-3T>C
NM_001203.3(BMPR1B):c.247G>A (p.Asp83Asn)
NM_001203.3(BMPR1B):c.247G>C (p.Asp83His)
NM_001203.3(BMPR1B):c.247G>T (p.Asp83Tyr)
NM_001203.3(BMPR1B):c.272G>T (p.Arg91Ile)
NM_001203.3(BMPR1B):c.280G>A (p.Glu94Lys)
NM_001203.3(BMPR1B):c.289A>T (p.Thr97Ser)
NM_001203.3(BMPR1B):c.291A>G (p.Thr97=)
NM_001203.3(BMPR1B):c.321C>T (p.His107=)
NM_001203.3(BMPR1B):c.349+18C>G rs775026990
NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs) rs863223287
NM_001203.3(BMPR1B):c.402_405del (p.Cys135fs)
NM_001203.3(BMPR1B):c.411G>A (p.Leu137=)
NM_001203.3(BMPR1B):c.419T>G (p.Val140Gly)
NM_001203.3(BMPR1B):c.425T>C (p.Ile142Thr)
NM_001203.3(BMPR1B):c.440A>G (p.Tyr147Cys)
NM_001203.3(BMPR1B):c.464C>A (p.Thr155Asn)
NM_001203.3(BMPR1B):c.464C>G (p.Thr155Ser)
NM_001203.3(BMPR1B):c.470C>G (p.Pro157Arg) rs2149292391
NM_001203.3(BMPR1B):c.470C>T (p.Pro157Leu) rs2149292391
NM_001203.3(BMPR1B):c.474A>G (p.Arg158=)
NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys) rs1579119447
NM_001203.3(BMPR1B):c.47A>G (p.Glu16Gly)
NM_001203.3(BMPR1B):c.487T>A (p.Leu163Ile) rs1438025940
NM_001203.3(BMPR1B):c.496G>A (p.Asp166Asn)
NM_001203.3(BMPR1B):c.497A>G (p.Asp166Gly) rs781670372
NM_001203.3(BMPR1B):c.503C>G (p.Thr168Ser)
NM_001203.3(BMPR1B):c.507C>T (p.Tyr169=)
NM_001203.3(BMPR1B):c.524C>G (p.Ser175Cys)
NM_001203.3(BMPR1B):c.524C>T (p.Ser175Phe)
NM_001203.3(BMPR1B):c.527T>C (p.Leu176Pro)
NM_001203.3(BMPR1B):c.534C>T (p.Asp178=)
NM_001203.3(BMPR1B):c.543G>A (p.Glu181=)
NM_001203.3(BMPR1B):c.556T>A (p.Ser186Thr)
NM_001203.3(BMPR1B):c.573C>A (p.Gly191=)
NM_001203.3(BMPR1B):c.581T>A (p.Leu194Gln)
NM_001203.3(BMPR1B):c.585+10_585+12del
NM_001203.3(BMPR1B):c.585+18C>A
NM_001203.3(BMPR1B):c.585+1G>C
NM_001203.3(BMPR1B):c.586-19G>A
NM_001203.3(BMPR1B):c.616A>G (p.Met206Val)
NM_001203.3(BMPR1B):c.621_622delinsCC (p.Lys208Gln)
NM_001203.3(BMPR1B):c.622A>G (p.Lys208Glu)
NM_001203.3(BMPR1B):c.62C>T (p.Thr21Ile)
NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser) rs1553941890
NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter) rs863225042
NM_001203.3(BMPR1B):c.67C>G (p.Pro23Ala)
NM_001203.3(BMPR1B):c.705C>G (p.Thr235=) rs56083112
NM_001203.3(BMPR1B):c.70A>G (p.Thr24Ala) rs754365645
NM_001203.3(BMPR1B):c.724T>C (p.Phe242Leu) rs761226009
NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val) rs761226009
NM_001203.3(BMPR1B):c.725T>A (p.Phe242Tyr)
NM_001203.3(BMPR1B):c.725T>G (p.Phe242Cys)
NM_001203.3(BMPR1B):c.737A>C (p.Glu246Ala)
NM_001203.3(BMPR1B):c.737A>T (p.Glu246Val) rs779737736
NM_001203.3(BMPR1B):c.746A>T (p.Gln249Leu) rs187868598
NM_001203.3(BMPR1B):c.74C>A (p.Pro25His)
NM_001203.3(BMPR1B):c.778+17A>C
NM_001203.3(BMPR1B):c.779-15C>G rs1455866517
NM_001203.3(BMPR1B):c.779-6T>C rs2149301708
NM_001203.3(BMPR1B):c.77G>A (p.Arg26His)
NM_001203.3(BMPR1B):c.786T>A (p.Ile262=)
NM_001203.3(BMPR1B):c.790G>T (p.Ala264Ser)
NM_001203.3(BMPR1B):c.804G>A (p.Gly268=) rs1733333766
NM_001203.3(BMPR1B):c.836C>T (p.Thr279Ile)
NM_001203.3(BMPR1B):c.842A>G (p.Tyr281Cys)
NM_001203.3(BMPR1B):c.851A>C (p.Asn284Thr)
NM_001203.3(BMPR1B):c.85G>T (p.Val29Phe)
NM_001203.3(BMPR1B):c.875A>G (p.Lys292Arg)
NM_001203.3(BMPR1B):c.886C>T (p.Leu296=)
NM_001203.3(BMPR1B):c.899C>T (p.Ser300Leu)
NM_001203.3(BMPR1B):c.906G>C (p.Leu302=)
NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys) rs745854387
NM_001203.3(BMPR1B):c.928A>G (p.Ser310Gly)
NM_001203.3(BMPR1B):c.979G>A (p.Ala327Thr)
NM_001203.3(BMPR1B):c.997C>G (p.Leu333Val)

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.