ClinVar Miner

List of variants in gene CANT1 reported as uncertain significance for Desbuquois dysplasia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP
NM_001159773.2(CANT1):c.*1032G>T rs139951975
NM_001159773.2(CANT1):c.*1050C>T
NM_001159773.2(CANT1):c.*1153C>T
NM_001159773.2(CANT1):c.*1167G>A rs186436891
NM_001159773.2(CANT1):c.*119G>A
NM_001159773.2(CANT1):c.*1264_*1265dup rs886053521
NM_001159773.2(CANT1):c.*1359C>T
NM_001159773.2(CANT1):c.*1412A>G
NM_001159773.2(CANT1):c.*1424_*1427GAAG[1] rs567566510
NM_001159773.2(CANT1):c.*1479C>A rs886053520
NM_001159773.2(CANT1):c.*1484C>A rs886053519
NM_001159773.2(CANT1):c.*163C>G
NM_001159773.2(CANT1):c.*1731C>T
NM_001159773.2(CANT1):c.*174G>A rs544997912
NM_001159773.2(CANT1):c.*223C>T rs886053524
NM_001159773.2(CANT1):c.*24G>A
NM_001159773.2(CANT1):c.*301C>T rs576222698
NM_001159773.2(CANT1):c.*352G>A
NM_001159773.2(CANT1):c.*374C>T
NM_001159773.2(CANT1):c.*445G>A rs149131650
NM_001159773.2(CANT1):c.*450A>G rs886053523
NM_001159773.2(CANT1):c.*550A>C rs886053522
NM_001159773.2(CANT1):c.*569C>T
NM_001159773.2(CANT1):c.*57G>A rs886053525
NM_001159773.2(CANT1):c.*748T>A
NM_001159773.2(CANT1):c.*753C>A rs745568057
NM_001159773.2(CANT1):c.*781C>A
NM_001159773.2(CANT1):c.*813G>C rs535754990
NM_001159773.2(CANT1):c.*837C>T
NM_001159773.2(CANT1):c.*876G>A rs551101097
NM_001159773.2(CANT1):c.*89G>A rs146866436
NM_001159773.2(CANT1):c.*919C>G rs777105575
NM_001159773.2(CANT1):c.*998G>C rs78037898
NM_001159773.2(CANT1):c.-127C>A rs868277630
NM_001159773.2(CANT1):c.-146-15C>T rs886053531
NM_001159773.2(CANT1):c.-164G>A rs886053532
NM_001159773.2(CANT1):c.-202A>C rs377716176
NM_001159773.2(CANT1):c.-22-34C>G rs886053528
NM_001159773.2(CANT1):c.-23+39G>A rs886053529
NM_001159773.2(CANT1):c.-23+60A>G
NM_001159773.2(CANT1):c.-23+79T>C rs548338706
NM_001159773.2(CANT1):c.-23+7A>G
NM_001159773.2(CANT1):c.-23+94T>G rs867691817
NM_001159773.2(CANT1):c.-233C>T rs886053533
NM_001159773.2(CANT1):c.-81G>A rs886053530
NM_001159773.2(CANT1):c.119G>A (p.Arg40His)
NM_001159773.2(CANT1):c.125G>A (p.Arg42His) rs886053526
NM_001159773.2(CANT1):c.147C>T (p.Phe49=) rs371500993
NM_001159773.2(CANT1):c.187C>A (p.Arg63Ser)
NM_001159773.2(CANT1):c.246G>A (p.Ala82=)
NM_001159773.2(CANT1):c.250G>C (p.Ala84Pro) rs767659113
NM_001159773.2(CANT1):c.266A>T (p.Asp89Val)
NM_001159773.2(CANT1):c.287C>T (p.Pro96Leu) rs375718883
NM_001159773.2(CANT1):c.433G>T (p.Val145Leu) rs140112462
NM_001159773.2(CANT1):c.513T>G (p.Ile171Met)
NM_001159773.2(CANT1):c.54C>T (p.Leu18=)
NM_001159773.2(CANT1):c.552G>A (p.Thr184=)
NM_001159773.2(CANT1):c.556G>A (p.Val186Ile) rs199516699
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377
NM_001159773.2(CANT1):c.570C>T (p.Ile190=)
NM_001159773.2(CANT1):c.61A>G (p.Ser21Gly) rs886053527
NM_001159773.2(CANT1):c.643G>T (p.Glu215Ter) rs773215035
NM_001159773.2(CANT1):c.702G>A (p.Thr234=)
NM_001159773.2(CANT1):c.735G>A (p.Pro245=) rs138754148
NM_001159773.2(CANT1):c.809G>A (p.Arg270Gln) rs764240311
NM_001159773.2(CANT1):c.819C>T (p.Ala273=) rs571979064
NM_001159773.2(CANT1):c.830C>T (p.Pro277Leu) rs774920895
NM_001159773.2(CANT1):c.835+10G>C rs779296231
NM_001159773.2(CANT1):c.835+6A>G
NM_001159773.2(CANT1):c.916C>T (p.Arg306Cys) rs569632479
NM_001159773.2(CANT1):c.948C>T (p.Gly316=)
NM_001159773.2(CANT1):c.969C>T (p.Ala323=) rs751735028

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