ClinVar Miner

List of variants in gene BMPR1B studied for brachydactyly type A2

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 187
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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
NC_000004.11:g.(?_96025576)_(96036958_?)del
NC_000004.11:g.(?_96069879)_(96075824_?)dup
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.1171C>T (p.His391Tyr)
NM_001203.3(BMPR1B):c.1190T>C (p.Met397Thr)
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.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.1456C>T (p.Arg486Trp) rs121434418
NM_001203.3(BMPR1B):c.1457G>A (p.Arg486Gln) rs121434419
NM_001203.3(BMPR1B):c.1498A>G (p.Ile500Val)
NM_001203.3(BMPR1B):c.21A>G (p.Gly7=) rs2149265435
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.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.599T>A (p.Ile200Lys) rs121434417
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.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.71C>T (p.Thr24Ile) rs912115035
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.928A>G (p.Ser310Gly)
NM_001203.3(BMPR1B):c.979G>A (p.Ala327Thr)
NM_001203.3(BMPR1B):c.997C>G (p.Leu333Val)
NM_001256793.2:c.-131339_868+386del

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