ClinVar Miner

List of variants studied for Diaphanospondylodysostosis

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ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_001365308.1(BMPER):c.408C>T (p.Gly136=) rs10265207 0.42558
NM_001365308.1(BMPER):c.*1217A>G rs2058681 0.25122
NM_001365308.1(BMPER):c.1461G>T (p.Pro487=) rs77064045 0.24091
NM_001365308.1(BMPER):c.*1067C>T rs17169667 0.23581
NM_001365308.1(BMPER):c.*1262C>T rs60064022 0.09316
NM_001365308.1(BMPER):c.*704A>G rs11972404 0.09219
NM_001365308.1(BMPER):c.*2218C>T rs73097004 0.08773
NM_001365308.1(BMPER):c.*1703C>T rs73097003 0.07860
NM_133468.5(BMPER):c.-141+4A>G rs113711026 0.02814
NM_001365308.1(BMPER):c.474G>A (p.Met158Ile) rs62623441 0.02800
NM_133468.5(BMPER):c.-211G>A rs112890951 0.02724
NM_001365308.1(BMPER):c.*678G>T rs77835415 0.01968
NM_133468.5(BMPER):c.-313G>C rs114417992 0.01702
NM_001365308.1(BMPER):c.133+9G>C rs75250304 0.01197
NM_133468.5(BMPER):c.-230G>A rs189473686 0.01178
NM_001365308.1(BMPER):c.580G>A (p.Gly194Ser) rs74734392 0.01011
NM_001365308.1(BMPER):c.-25C>A rs75295552 0.00941
NM_001365308.1(BMPER):c.774T>G (p.Ala258=) rs117988035 0.00895
NM_001365308.1(BMPER):c.1086C>T (p.Gly362=) rs116085783 0.00747
NM_133468.5(BMPER):c.-263G>A rs117405942 0.00713
NM_001365308.1(BMPER):c.1663C>T (p.Arg555Trp) rs10249320 0.00549
NM_001365308.1(BMPER):c.*11G>A rs142523304 0.00498
NM_001365308.1(BMPER):c.1797C>T (p.Cys599=) rs74674953 0.00446
NM_001365308.1(BMPER):c.417A>T (p.Thr139=) rs147600292 0.00418
NM_001365308.1(BMPER):c.1087G>A (p.Val363Ile) rs117322489 0.00405
NM_001365308.1(BMPER):c.*244C>A rs118064603 0.00341
NM_001365308.1(BMPER):c.*1163C>T rs144812459 0.00285
NM_001365308.1(BMPER):c.*522G>A rs118049461 0.00250
NM_001365308.1(BMPER):c.*564T>C rs181365229 0.00228
NM_001365308.1(BMPER):c.*1554A>C rs185967190 0.00196
NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp) rs144030074 0.00149
NM_001365308.1(BMPER):c.1974G>A (p.Pro658=) rs140264933 0.00131
NM_001365308.1(BMPER):c.*384T>G rs536841746 0.00124
NM_001365308.1(BMPER):c.1248G>A (p.Ser416=) rs199800567 0.00117
NM_133468.5(BMPER):c.-362C>A rs144748548 0.00113
NM_001365308.1(BMPER):c.664C>T (p.Pro222Ser) rs148867097 0.00106
NM_001365308.1(BMPER):c.493+5C>T rs191957211 0.00104
NM_001365308.1(BMPER):c.*278T>C rs116981158 0.00103
NM_001365308.1(BMPER):c.*1396A>G rs567401735 0.00099
NM_001365308.1(BMPER):c.1818C>A (p.Thr606=) rs138797097 0.00093
NM_133468.5(BMPER):c.-141+9T>A rs886062293 0.00089
NM_001365308.1(BMPER):c.*609G>A rs561470559 0.00083
NM_001365308.1(BMPER):c.1460C>T (p.Pro487Leu) rs115364786 0.00059
NM_001365308.1(BMPER):c.*1794G>A rs910548220 0.00054
NM_001365308.1(BMPER):c.*1424A>G rs569107815 0.00047
NM_001365308.1(BMPER):c.*617G>A rs184793018 0.00030
NM_133468.5(BMPER):c.-201G>T rs560596245 0.00029
NM_001365308.1(BMPER):c.*1667G>C rs886062304 0.00026
NM_001365308.1(BMPER):c.1902G>C (p.Val634=) rs150768568 0.00026
NM_001365308.1(BMPER):c.*53G>A rs572862909 0.00024
NM_001365308.1(BMPER):c.1514G>A (p.Arg505His) rs189187507 0.00024
NM_001365308.1(BMPER):c.*2067A>T rs879563289 0.00020
NM_001365308.1(BMPER):c.*52C>T rs370654591 0.00019
NM_001365308.1(BMPER):c.*129A>T rs961172250 0.00017
NM_001365308.1(BMPER):c.*1605C>T rs138630544 0.00013
NM_001365308.1(BMPER):c.*2309G>A rs926295403 0.00013
NM_001365308.1(BMPER):c.*726C>T rs543417934 0.00011
NM_001365308.1(BMPER):c.1457C>T (p.Ala486Val) rs368522901 0.00011
NM_001365308.1(BMPER):c.1744C>T (p.Arg582Trp) rs138648093 0.00009
NM_001365308.1(BMPER):c.1906G>A (p.Asp636Asn) rs202141422 0.00009
NM_001365308.1(BMPER):c.1978G>A (p.Val660Ile) rs376351419 0.00009
NM_133468.5(BMPER):c.-108G>A rs886062294 0.00007
NM_133468.5(BMPER):c.-190C>T rs886062291 0.00007
NM_001365308.1(BMPER):c.229G>A (p.Val77Met) rs376317780 0.00006
NM_133468.5(BMPER):c.-160G>A rs886062292 0.00006
NM_001365308.1(BMPER):c.2054G>A (p.Arg685Gln) rs201578248 0.00005
NM_001365308.1(BMPER):c.*1596A>G rs1021955199 0.00004
NM_001365308.1(BMPER):c.*658T>C rs566476020 0.00004
NM_001365308.1(BMPER):c.1207G>A (p.Val403Met) rs371160820 0.00004
NM_001365308.1(BMPER):c.1724T>C (p.Val575Ala) rs760584340 0.00004
NM_001365308.1(BMPER):c.*1411G>A rs886062301 0.00003
NM_001365308.1(BMPER):c.116C>G (p.Ala39Gly) rs369009264 0.00003
NM_001365308.1(BMPER):c.*111C>A rs905820805 0.00002
NM_001365308.1(BMPER):c.391C>T (p.Arg131Cys) rs374945016 0.00002
NM_001365308.1(BMPER):c.857G>T (p.Cys286Phe) rs765544595 0.00002
NM_001365308.1(BMPER):c.*134T>C rs1791235642 0.00001
NM_001365308.1(BMPER):c.*1403C>T rs1424360954 0.00001
NM_001365308.1(BMPER):c.*1878C>G rs886062305 0.00001
NM_001365308.1(BMPER):c.*2277T>G rs886062309 0.00001
NM_001365308.1(BMPER):c.*677C>T rs780769567 0.00001
NM_001365308.1(BMPER):c.*887G>A rs571736186 0.00001
NM_001365308.1(BMPER):c.1003C>A (p.Gln335Lys) rs886062297 0.00001
NM_001365308.1(BMPER):c.1078+5G>A rs559550154 0.00001
NM_001365308.1(BMPER):c.1115A>G (p.Tyr372Cys) rs1562728956 0.00001
NM_001365308.1(BMPER):c.1323C>T (p.Asn441=) rs781214057 0.00001
NM_001365308.1(BMPER):c.1927A>T (p.Ile643Phe) rs528093648 0.00001
NM_001365308.1(BMPER):c.372G>A (p.Pro124=) rs750265350 0.00001
NM_001365308.1(BMPER):c.390A>C (p.Leu130=) rs754813827 0.00001
NM_001365308.1(BMPER):c.406G>A (p.Gly136Ser) rs886062296 0.00001
NM_001365308.1(BMPER):c.832T>G (p.Cys278Gly) rs760045733 0.00001
NM_001365308.1(BMPER):c.925C>T (p.Gln309Ter) rs387906992 0.00001
NM_001365308.1(BMPER):c.927+6T>A rs1373263188 0.00001
NM_133468.5(BMPER):c.-293T>C rs1783769828 0.00001
NM_001365308.1(BMPER):c.*1071A>G rs886062300
NM_001365308.1(BMPER):c.*123_*128del rs886062298
NM_001365308.1(BMPER):c.*126TA[7] rs68052795
NM_001365308.1(BMPER):c.*1482_*1483del rs5883454
NM_001365308.1(BMPER):c.*1484del rs886062303
NM_001365308.1(BMPER):c.*1807C>A rs1791277871
NM_001365308.1(BMPER):c.*1929dup rs886062306
NM_001365308.1(BMPER):c.*2100C>A rs886062307
NM_001365308.1(BMPER):c.*2170A>G rs886062308
NM_001365308.1(BMPER):c.*267C>T rs561288060
NM_001365308.1(BMPER):c.*490T>C rs1583488373
NM_001365308.1(BMPER):c.*516G>T rs1791245376
NM_001365308.1(BMPER):c.*678G>A rs77835415
NM_001365308.1(BMPER):c.*699C>T rs1045146338
NM_001365308.1(BMPER):c.*767C>T rs886062299
NM_001365308.1(BMPER):c.*975G>A rs181798979
NM_001365308.1(BMPER):c.*980T>C rs1791257856
NM_001365308.1(BMPER):c.1075G>T (p.Glu359Ter)
NM_001365308.1(BMPER):c.1109C>T (p.Pro370Leu) rs387906993
NM_001365308.1(BMPER):c.1124T>C (p.Phe375Ser) rs756757241
NM_001365308.1(BMPER):c.115G>T (p.Ala39Ser) rs886062295
NM_001365308.1(BMPER):c.1166T>G (p.Val389Gly) rs1788937358
NM_001365308.1(BMPER):c.1311C>T (p.Thr437=) rs760041868
NM_001365308.1(BMPER):c.1471G>A (p.Gly491Ser) rs1467745043
NM_001365308.1(BMPER):c.1481G>C (p.Cys494Ser) rs1430959606
NM_001365308.1(BMPER):c.1638T>A (p.Cys546Ter) rs387906994
NM_001365308.1(BMPER):c.1935G>C (p.Thr645=) rs6968741
NM_001365308.1(BMPER):c.1963T>C (p.Cys655Arg) rs1791226938
NM_001365308.1(BMPER):c.254C>T (p.Pro85Leu) rs142205105
NM_001365308.1(BMPER):c.26_35delinsAGACCAGAGCGGCG (p.Ala9fs) rs2128599896
NM_001365308.1(BMPER):c.403-13T>C rs199684961
NM_001365308.1(BMPER):c.403-2A>C
NM_001365308.1(BMPER):c.410T>A (p.Val137Asp) rs1554300601
NM_001365308.1(BMPER):c.531_535dup (p.Phe179fs)
NM_001365308.1(BMPER):c.721C>T (p.Arg241Ter) rs1222340958
NM_001365308.1(BMPER):c.758A>G (p.Tyr253Cys) rs1788155500
NM_133468.5(BMPER):c.-192G>A rs886062290

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