ClinVar Miner

List of variants in gene BMPR1B reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_001203.3(BMPR1B):c.*1559A>G rs2289044 0.64829
NM_001203.3(BMPR1B):c.*196A>G rs1836261 0.64776
NM_001203.3(BMPR1B):c.*989A>G rs11097457 0.63376
NM_001203.3(BMPR1B):c.*141C>T rs1434536 0.45277
NM_001203.3(BMPR1B):c.*2350C>T rs1863654 0.43235
NM_001203.3(BMPR1B):c.*3221T>C rs2162450 0.43224
NM_001203.3(BMPR1B):c.*2776A>G rs1434535 0.43208
NM_001203.3(BMPR1B):c.*3255C>G rs2162449 0.15534
NM_001203.3(BMPR1B):c.*2332T>A rs73839218 0.11440
NM_001203.3(BMPR1B):c.*641C>T rs17023107 0.11418
NM_001203.3(BMPR1B):c.*1361G>A rs56738985 0.04193
NM_001203.3(BMPR1B):c.*195C>T rs11725366 0.04190
NM_001203.3(BMPR1B):c.*3303G>A rs12505161 0.03077
NM_001203.3(BMPR1B):c.*3328A>G rs7676885 0.02335
NM_001203.3(BMPR1B):c.*49C>T rs6813320 0.02305
NM_001203.3(BMPR1B):c.-117T>C rs75697273 0.01288
NM_001203.3(BMPR1B):c.*3618G>A rs76804339 0.01169
NM_001203.3(BMPR1B):c.*2156C>T rs115505973 0.00904
NM_001203.3(BMPR1B):c.*2453A>G rs143459680 0.00892
NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) rs56083112 0.00784
NM_001203.3(BMPR1B):c.*1972C>A rs185854880 0.00723
NM_001203.3(BMPR1B):c.-129A>G rs148290279 0.00656
NM_001203.3(BMPR1B):c.*3679G>A rs568350802 0.00471
NM_001203.3(BMPR1B):c.*487G>T rs183245717 0.00392
NM_001203.3(BMPR1B):c.*9G>C rs112333283 0.00314
NM_001203.3(BMPR1B):c.*2962T>G rs559802311 0.00307
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) rs138801821 0.00280
NM_001203.3(BMPR1B):c.*2411T>A rs145989039 0.00208
NM_001203.3(BMPR1B):c.*413G>A rs188703962 0.00198
NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=) rs140430323 0.00163
NM_001203.3(BMPR1B):c.*1371A>G rs542105565 0.00162
NM_001203.3(BMPR1B):c.*1203A>G rs577303456 0.00160
NM_001203.3(BMPR1B):c.*2257C>G rs551173634 0.00155
NM_001203.3(BMPR1B):c.*1899A>G rs372385843 0.00153
NM_001203.3(BMPR1B):c.*2433A>G rs139936115 0.00143
NM_001203.3(BMPR1B):c.*860T>C rs188311185 0.00126
NM_001203.3(BMPR1B):c.*126G>A rs569581364 0.00115
NM_001203.3(BMPR1B):c.*3101A>G rs556715070 0.00100
NM_001203.3(BMPR1B):c.*2125G>T rs568153337 0.00099
NM_001203.3(BMPR1B):c.*3646G>A rs529009401 0.00097
NM_001203.3(BMPR1B):c.*762T>C rs574500341 0.00091
NM_001203.3(BMPR1B):c.671G>A (p.Arg224His) rs35973133 0.00081
NM_001203.3(BMPR1B):c.-287C>G rs1019586523 0.00067
NM_001203.3(BMPR1B):c.*83C>G rs563289256 0.00066
NM_001203.3(BMPR1B):c.1065T>A (p.Val355=) rs139872191 0.00064
NM_001203.3(BMPR1B):c.*2949A>G rs535266062 0.00057
NM_001203.3(BMPR1B):c.247-9C>T rs199892209 0.00048
NM_001203.3(BMPR1B):c.*1157A>G rs775047830 0.00046
NM_001203.3(BMPR1B):c.1384-8T>C rs201359647 0.00041
NM_001203.3(BMPR1B):c.*221C>T rs779144644 0.00035
NM_001203.3(BMPR1B):c.300C>T (p.Asn100=) rs140499888 0.00030
NM_001203.3(BMPR1B):c.*1971C>G rs191224787 0.00028
NM_001203.3(BMPR1B):c.*1113G>A rs139279847 0.00027
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.*1013C>T rs191551226 0.00020
NM_001203.3(BMPR1B):c.*1660T>A rs570367865 0.00020
NM_001203.3(BMPR1B):c.*2221A>G rs546277742 0.00018
NM_001203.3(BMPR1B):c.*744C>T rs943089166 0.00015
NM_001203.3(BMPR1B):c.92G>A (p.Arg31His) rs200035802 0.00015
NM_001203.3(BMPR1B):c.*2216C>G rs564061209 0.00011
NM_001203.3(BMPR1B):c.*2228A>G rs773682819 0.00011
NM_001203.3(BMPR1B):c.*633A>G rs886059736 0.00010
NM_001203.3(BMPR1B):c.*1375A>T rs370915593 0.00009
NM_001203.3(BMPR1B):c.150C>T (p.Asp50=) rs147320212 0.00009
NM_001203.3(BMPR1B):c.891C>T (p.Asp297=) rs112111860 0.00009
NM_001203.3(BMPR1B):c.-18+1G>T rs761522559 0.00006
NM_001203.3(BMPR1B):c.-88C>G rs756448612 0.00005
NM_001203.3(BMPR1B):c.*109G>A rs374115313 0.00004
NM_001203.3(BMPR1B):c.*1576G>A rs886059740 0.00004
NM_001203.3(BMPR1B):c.*1800G>A rs962993386 0.00004
NM_001203.3(BMPR1B):c.*1831A>G rs938267264 0.00004
NM_001203.3(BMPR1B):c.*3318A>G rs972072375 0.00004
NM_001203.3(BMPR1B):c.*3527G>A rs1342443031 0.00004
NM_001203.3(BMPR1B):c.*3699A>G rs886059746 0.00004
NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp) rs778257341 0.00004
NM_001203.3(BMPR1B):c.395T>G (p.Val132Gly) rs150002205 0.00004
NM_001203.3(BMPR1B):c.*1637T>A rs1264432240 0.00003
NM_001203.3(BMPR1B):c.*2166C>A rs886059741 0.00003
NM_001203.3(BMPR1B):c.*790A>C rs886059737 0.00003
NM_001203.3(BMPR1B):c.*2217T>C rs532795780 0.00002
NM_001203.3(BMPR1B):c.*2302G>A rs765599516 0.00002
NM_001203.3(BMPR1B):c.*2307C>T rs569546552 0.00001
NM_001203.3(BMPR1B):c.*2572G>T rs886059743 0.00001
NM_001203.3(BMPR1B):c.*283G>A rs1352644567 0.00001
NM_001203.3(BMPR1B):c.*3301C>T rs886059744 0.00001
NM_001203.3(BMPR1B):c.*3677A>G rs1343033075 0.00001
NM_001203.3(BMPR1B):c.*3719G>C rs886059747 0.00001
NM_001203.3(BMPR1B):c.*524C>T rs770792059 0.00001
NM_001203.3(BMPR1B):c.-167A>G rs1331789489 0.00001
NM_001203.3(BMPR1B):c.-182G>A rs143230133 0.00001
NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) rs577188671 0.00001
NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser) rs200198618 0.00001
NM_001203.3(BMPR1B):c.*1065T>A rs1038526436
NM_001203.3(BMPR1B):c.*133C>A rs886059732
NM_001203.3(BMPR1B):c.*139C>T rs1735297607
NM_001203.3(BMPR1B):c.*1661A>G rs1296755497
NM_001203.3(BMPR1B):c.*1792C>T rs888310660
NM_001203.3(BMPR1B):c.*2225A>C rs1292377172
NM_001203.3(BMPR1B):c.*2229_*2232del rs886059742
NM_001203.3(BMPR1B):c.*2230G>T rs529425822
NM_001203.3(BMPR1B):c.*245T>A rs886059733
NM_001203.3(BMPR1B):c.*302dup rs11436086
NM_001203.3(BMPR1B):c.*3277A>T rs148400273
NM_001203.3(BMPR1B):c.*3474A>C rs886059745
NM_001203.3(BMPR1B):c.*3489A>G rs142488637
NM_001203.3(BMPR1B):c.*391C>A rs886059735
NM_001203.3(BMPR1B):c.*824_*834del rs548956012
NM_001203.3(BMPR1B):c.*825_*834del rs548956012
NM_001203.3(BMPR1B):c.*828T>G rs868257514
NM_001203.3(BMPR1B):c.*833_*834dup rs548956012
NM_001203.3(BMPR1B):c.*834T>A rs962807006
NM_001203.3(BMPR1B):c.-198G>C rs1721592459
NM_001203.3(BMPR1B):c.1112G>T (p.Arg371Leu) rs34970181
NM_001203.3(BMPR1B):c.1234A>G (p.Arg412Gly) rs1190618723
NM_001203.3(BMPR1B):c.233A>G (p.Asp78Gly) rs1731897620
NM_001203.3(BMPR1B):c.36C>T (p.Gly12=) rs936793430
NM_001203.3(BMPR1B):c.482T>G (p.Ile161Ser) rs766140919
NM_001203.3(BMPR1B):c.490G>A (p.Glu164Lys) rs754565613
NM_001203.3(BMPR1B):c.581T>C (p.Leu194Pro) rs767925715
NM_001203.3(BMPR1B):c.728G>A (p.Arg243Lys) rs886059731
NM_001203.3(BMPR1B):c.790G>A (p.Ala264Thr) rs767750336

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