ClinVar Miner

List of variants in gene CANT1 studied for Desbuquois dysplasia 1

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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_001159773.2(CANT1):c.159T>C (p.Ala53=) rs8077024 0.34524
NM_001159773.2(CANT1):c.*1440G>A rs4861 0.14246
NM_001159773.2(CANT1):c.-23+25G>A rs3744171 0.12298
NM_001159773.2(CANT1):c.*847C>T rs11891 0.12297
NM_001159773.2(CANT1):c.1056C>T (p.Asn352=) rs3803781 0.03451
NM_001159773.2(CANT1):c.*964A>G rs75126416 0.03342
NM_001159773.2(CANT1):c.*664T>C rs79189369 0.03215
NM_001159773.2(CANT1):c.*671T>C rs114125762 0.03215
NM_001159773.2(CANT1):c.*829G>A rs115856545 0.02343
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) rs9903215 0.01090
NM_001159773.2(CANT1):c.*1167G>A rs186436891 0.00916
NM_001159773.2(CANT1):c.*1093C>T rs8078860 0.00775
NM_001159773.2(CANT1):c.*1149C>T rs114706748 0.00568
NM_001159773.2(CANT1):c.*1476G>A rs73999357 0.00503
NM_001159773.2(CANT1):c.*1376C>G rs139673784 0.00478
NM_001159773.2(CANT1):c.*696T>G rs149991908 0.00478
NM_001159773.2(CANT1):c.-96C>T rs143084065 0.00410
NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu) rs139486406 0.00273
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) rs34082669 0.00268
NM_001159773.2(CANT1):c.194C>T (p.Ala65Val) rs200811852 0.00242
NM_001159773.2(CANT1):c.198C>T (p.Pro66=) rs201935694 0.00185
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377 0.00151
NM_001159773.2(CANT1):c.*1794T>G rs192546263 0.00143
NM_001159773.2(CANT1):c.*89G>A rs146866436 0.00123
NM_001159773.2(CANT1):c.*157G>A rs117904862 0.00122
NM_001159773.2(CANT1):c.*1056T>C rs77565945 0.00109
NM_001159773.2(CANT1):c.*1412A>G rs190318927 0.00086
NM_001159773.2(CANT1):c.*1732T>C rs184171534 0.00041
NM_001159773.2(CANT1):c.147C>T (p.Phe49=) rs371500993 0.00031
NM_001159773.2(CANT1):c.-22-34C>G rs886053528 0.00029
NM_001159773.2(CANT1):c.433G>T (p.Val145Leu) rs140112462 0.00029
NM_001159773.2(CANT1):c.*1153C>T rs1027724116 0.00021
NM_001159773.2(CANT1):c.513T>G (p.Ile171Met) rs201181440 0.00021
NM_001159773.2(CANT1):c.*876G>A rs551101097 0.00019
NM_001159773.2(CANT1):c.1152G>C (p.Leu384=) rs145794847 0.00017
NM_001159773.2(CANT1):c.-146-15C>T rs886053531 0.00016
NM_001159773.2(CANT1):c.-23+39G>A rs886053529 0.00015
NM_001159773.2(CANT1):c.*919C>G rs777105575 0.00014
NM_001159773.2(CANT1):c.*352G>A rs766546218 0.00012
NM_001159773.2(CANT1):c.835+6A>G rs375082589 0.00012
NM_001159773.2(CANT1):c.*1032G>T rs139951975 0.00011
NM_001159773.2(CANT1):c.*301C>T rs576222698 0.00011
NM_001159773.2(CANT1):c.-23+94T>G rs867691817 0.00011
NM_001159773.2(CANT1):c.*174G>A rs544997912 0.00009
NM_001159773.2(CANT1):c.*57G>A rs886053525 0.00009
NM_001159773.2(CANT1):c.735G>A (p.Pro245=) rs138754148 0.00009
NM_001159773.2(CANT1):c.*748T>A rs748455061 0.00006
NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val) rs372631124 0.00006
NM_001159773.2(CANT1):c.228dup (p.Trp77fs) rs587776896 0.00006
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs) rs587776897 0.00006
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met) rs770371904 0.00006
NM_001159773.2(CANT1):c.556G>A (p.Val186Ile) rs199516699 0.00006
NM_001159773.2(CANT1):c.*445G>A rs149131650 0.00005
NM_001159773.2(CANT1):c.119G>A (p.Arg40His) rs375819727 0.00005
NM_001159773.2(CANT1):c.969C>T (p.Ala323=) rs751735028 0.00005
NM_001159773.2(CANT1):c.-23+7A>G rs1332415937 0.00004
NM_001159773.2(CANT1):c.552G>A (p.Thr184=) rs762438787 0.00004
NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro) rs150181226 0.00004
NM_001159773.2(CANT1):c.676G>A (p.Val226Met) rs377546036 0.00004
NM_001159773.2(CANT1):c.819C>T (p.Ala273=) rs571979064 0.00004
NM_001159773.2(CANT1):c.125G>A (p.Arg42His) rs886053526 0.00003
NM_001159773.2(CANT1):c.246G>A (p.Ala82=) rs567995164 0.00003
NM_001159773.2(CANT1):c.830C>T (p.Pro277Leu) rs774920895 0.00003
NM_001159773.2(CANT1):c.948C>T (p.Gly316=) rs556238561 0.00003
NM_001159773.2(CANT1):c.*1050C>T rs1461824358 0.00001
NM_001159773.2(CANT1):c.*1479C>A rs886053520 0.00001
NM_001159773.2(CANT1):c.*1484C>A rs886053519 0.00001
NM_001159773.2(CANT1):c.*223C>T rs886053524 0.00001
NM_001159773.2(CANT1):c.61A>G (p.Ser21Gly) rs886053527 0.00001
NM_001159773.2(CANT1):c.643G>T (p.Glu215Ter) rs773215035 0.00001
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu) rs761853610 0.00001
NM_001159773.2(CANT1):c.809G>A (p.Arg270Gln) rs764240311 0.00001
NM_001159773.2(CANT1):c.836-9G>A rs538543007 0.00001
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu) rs267606700 0.00001
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys) rs267606701 0.00001
NM_001159773.2(CANT1):c.899G>A (p.Arg300His) rs267606699 0.00001
NM_001159773.2(CANT1):c.916C>T (p.Arg306Cys) rs569632479 0.00001
NM_001159773.2(CANT1):c.*119G>A rs2070902561
NM_001159773.2(CANT1):c.*1359C>T rs992643827
NM_001159773.2(CANT1):c.*163C>G rs529224814
NM_001159773.2(CANT1):c.*1731C>T rs2070850838
NM_001159773.2(CANT1):c.*24G>A rs760356756
NM_001159773.2(CANT1):c.*374C>T rs560554427
NM_001159773.2(CANT1):c.*450A>G rs886053523
NM_001159773.2(CANT1):c.*550A>C rs886053522
NM_001159773.2(CANT1):c.*569C>T rs2070889534
NM_001159773.2(CANT1):c.*570G>A rs8079368
NM_001159773.2(CANT1):c.*753C>A rs745568057
NM_001159773.2(CANT1):c.*781C>A rs764123397
NM_001159773.2(CANT1):c.*813G>C rs535754990
NM_001159773.2(CANT1):c.*837C>T rs781025439
NM_001159773.2(CANT1):c.*998G>C rs78037898
NM_001159773.2(CANT1):c.*998G>T rs78037898
NM_001159773.2(CANT1):c.-127C>A rs868277630
NM_001159773.2(CANT1):c.-23+60A>G rs2071093869
NM_001159773.2(CANT1):c.-23+79T>C rs548338706
NM_001159773.2(CANT1):c.-81G>A rs886053530
NM_001159773.2(CANT1):c.1079C>A (p.Ala360Asp) rs387907081
NM_001159773.2(CANT1):c.1186G>A (p.Glu396Lys)
NM_001159773.2(CANT1):c.1186G>C (p.Glu396Gln)
NM_001159773.2(CANT1):c.187C>A (p.Arg63Ser) rs760657405
NM_001159773.2(CANT1):c.250G>C (p.Ala84Pro) rs767659113
NM_001159773.2(CANT1):c.266A>T (p.Asp89Val) rs773784258
NM_001159773.2(CANT1):c.287C>T (p.Pro96Leu) rs375718883
NM_001159773.2(CANT1):c.347_348del (p.Glu116fs)
NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter) rs267606702
NM_001159773.2(CANT1):c.375G>C (p.Trp125Cys) rs587776898
NM_001159773.2(CANT1):c.54C>T (p.Leu18=) rs2071085962
NM_001159773.2(CANT1):c.570C>T (p.Ile190=) rs376733332
NM_001159773.2(CANT1):c.627G>T (p.Glu209Asp) rs2071055518
NM_001159773.2(CANT1):c.631+11C>A rs2145839791
NM_001159773.2(CANT1):c.643G>A (p.Glu215Lys) rs773215035
NM_001159773.2(CANT1):c.702G>A (p.Thr234=) rs1023756732
NM_001159773.2(CANT1):c.734del (p.Pro245fs) rs587776509
NM_001159773.2(CANT1):c.780G>T (p.Glu260Asp) rs1438123632
NM_001159773.2(CANT1):c.835+10G>C rs779296231
NM_001159773.2(CANT1):c.836G>A (p.Gly279Asp) rs1233347902
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) rs587776895
NM_001159773.2(CANT1):c.909_910insGCCGC (p.Gln304fs) rs587776510

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