ClinVar Miner

List of variants studied for Brachydactyly by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 166
Download table as spreadsheet
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_000557.5(GDF5):c.-48= rs143384 0.56056
NM_000557.5(GDF5):c.-275= rs143383 0.53070
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_000557.5(GDF5):c.826= (p.Ala276=) rs224331 0.38490
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_000557.5(GDF5):c.1017= (p.Lys339=) rs224330 0.10244
NM_000557.5(GDF5):c.*335A>C rs73611720 0.09512
NM_000557.5(GDF5):c.*425T>C rs56366915 0.04970
NM_001203.3(BMPR1B):c.*1361G>A rs56738985 0.04193
NM_001203.3(BMPR1B):c.*195C>T rs11725366 0.04190
NM_000557.5(GDF5):c.497C>A (p.Pro166His) rs61754581 0.03081
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_000557.5(GDF5):c.*193G>T rs114832948 0.02139
NM_000557.5(GDF5):c.-135G>A rs73094730 0.02106
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_000557.5(GDF5):c.*468G>A rs79051206 0.00818
NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) rs56083112 0.00784
NM_002181.4(IHH):c.-58C>T rs186760637 0.00781
NM_001203.3(BMPR1B):c.*1972C>A rs185854880 0.00723
NM_001203.3(BMPR1B):c.-129A>G rs148290279 0.00656
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
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_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_000557.5(GDF5):c.*520T>C rs188252641 0.00238
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
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_000557.5(GDF5):c.-134C>G rs144924248 0.00155
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_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158 0.00057
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_000557.5(GDF5):c.-39C>T rs149907722 0.00029
NM_001203.3(BMPR1B):c.*1971C>G rs191224787 0.00028
NM_001203.3(BMPR1B):c.*1113G>A rs139279847 0.00027
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447 0.00026
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) rs150974461 0.00026
NM_000557.5(GDF5):c.855C>T (p.Gly285=) rs149593773 0.00025
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_000557.5(GDF5):c.*259G>C rs150833046 0.00016
NM_000557.5(GDF5):c.-30C>A rs375024998 0.00016
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_000557.5(GDF5):c.-220C>T rs886056643 0.00010
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_004560.4(ROR2):c.*766T>C rs548573232 0.00006
NM_001203.3(BMPR1B):c.-88C>G rs756448612 0.00005
NM_000557.5(GDF5):c.*387T>C rs553655935 0.00004
NM_000557.5(GDF5):c.*389C>T rs535023630 0.00004
NM_000557.5(GDF5):c.-236G>A rs1190526111 0.00004
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_000557.5(GDF5):c.206C>G (p.Ala69Gly) rs542574339 0.00002
NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) rs373973964 0.00002
NM_001203.3(BMPR1B):c.*2217T>C rs532795780 0.00002
NM_001203.3(BMPR1B):c.*2302G>A rs765599516 0.00002
NM_000557.5(GDF5):c.*166G>A rs569761315 0.00001
NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) rs367914931 0.00001
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_000557.5(GDF5):c.1374C>G (p.Pro458=) rs776415223 0.00001
NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) rs768978933 0.00001
NM_000557.5(GDF5):c.483G>A (p.Pro161=) rs752789551 0.00001
NM_000557.5(GDF5):c.57G>T (p.Leu19=) rs746980493 0.00001
NM_000557.5(GDF5):c.631+6G>A rs768697784 0.00001
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_000557.5(GDF5):c.-97T>C rs960967052
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) rs1601074882
NM_000557.5(GDF5):c.506C>A (p.Pro169His) rs2062477372
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
NM_002181.4(IHH):c.*623dup rs886055648
NM_004560.4(ROR2):c.*170AG[1] rs140581955

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.