ClinVar Miner

List of variants in gene BMPR1B reported as uncertain significance for Brachydactyly

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001203.3(BMPR1B):c.*2257C>G rs551173634 0.00155
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.-287C>G rs1019586523 0.00067
NM_001203.3(BMPR1B):c.*83C>G rs563289256 0.00066
NM_001203.3(BMPR1B):c.*2949A>G rs535266062 0.00057
NM_001203.3(BMPR1B):c.*1157A>G rs775047830 0.00046
NM_001203.3(BMPR1B):c.*221C>T rs779144644 0.00035
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.*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.-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.*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.*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.*3474A>C rs886059745
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.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

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.