ClinVar Miner

List of variants reported as uncertain significance for Diaphanospondylodysostosis

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ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001365308.1(BMPER):c.*244C>A rs118064603 0.00341
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 0.00147
NM_001365308.1(BMPER):c.1974G>A (p.Pro658=) rs140264933 0.00127
NM_001365308.1(BMPER):c.1248G>A (p.Ser416=) rs199800567 0.00123
NM_001365308.1(BMPER):c.664C>T (p.Pro222Ser) rs148867097 0.00112
NM_001365308.1(BMPER):c.493+5C>T rs191957211 0.00104
NM_001365308.1(BMPER):c.*1396A>G rs567401735 0.00101
NM_001365308.1(BMPER):c.1818C>A (p.Thr606=) rs138797097 0.00094
NM_133468.5(BMPER):c.-141+9T>A rs886062293 0.00091
NM_001365308.1(BMPER):c.*609G>A rs561470559 0.00061
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.1906G>A (p.Asp636Asn) rs202141422 0.00027
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.*1667G>C rs886062304 0.00013
NM_001365308.1(BMPER):c.*726C>T rs543417934 0.00011
NM_001365308.1(BMPER):c.1978G>A (p.Val660Ile) rs376351419 0.00009
NM_001365308.1(BMPER):c.*2309G>A rs926295403 0.00008
NM_001365308.1(BMPER):c.1457C>T (p.Ala486Val) rs368522901 0.00008
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.1207G>A (p.Val403Met) rs371160820 0.00004
NM_001365308.1(BMPER):c.1724T>C (p.Val575Ala) rs760584340 0.00004
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.*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.1115A>G (p.Tyr372Cys) rs1562728956 0.00001
NM_001365308.1(BMPER):c.1124T>C (p.Phe375Ser) rs756757241 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.816C>A (p.Cys272Ter) rs777026516 0.00001
NM_001365308.1(BMPER):c.*1071A>G rs886062300
NM_001365308.1(BMPER):c.*123_*128del rs886062298
NM_001365308.1(BMPER):c.*134T>C rs1791235642
NM_001365308.1(BMPER):c.*1411G>A rs886062301
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.*658T>C rs566476020
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.*980T>C rs1791257856
NM_001365308.1(BMPER):c.115G>T (p.Ala39Ser) rs886062295
NM_001365308.1(BMPER):c.1166T>G (p.Val389Gly)
NM_001365308.1(BMPER):c.1311C>T (p.Thr437=) rs760041868
NM_001365308.1(BMPER):c.1323C>T (p.Asn441=) rs781214057
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.1744C>T (p.Arg582Trp)
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.403-13T>C rs199684961
NM_001365308.1(BMPER):c.758A>G (p.Tyr253Cys) rs1788155500
NM_001365308.1(BMPER):c.832T>G (p.Cys278Gly)
NM_001365308.1(BMPER):c.927+6T>A
NM_133468.5(BMPER):c.-192G>A rs886062290
NM_133468.5(BMPER):c.-293T>C rs1783769828

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