ClinVar Miner

List of variants reported as uncertain significance for Brachydactyly

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Total variants: 77
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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_000557.5(GDF5):c.-30C>A rs375024998 0.00016
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_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.-88C>G rs756448612 0.00005
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.*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.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.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_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_000557.5(GDF5):c.-97T>C rs960967052
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.*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
NM_002181.4(IHH):c.*623dup rs886055648

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