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: 47
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HGVS dbSNP
NM_138793.3(CANT1):c.*1032G>T rs139951975
NM_138793.3(CANT1):c.*1093C>T rs8078860
NM_138793.3(CANT1):c.*1167G>A rs186436891
NM_138793.3(CANT1):c.*1264_*1265dupGG rs886053521
NM_138793.3(CANT1):c.*1376C>G rs139673784
NM_138793.3(CANT1):c.*1428_*1431delGAAG rs567566510
NM_138793.3(CANT1):c.*1476G>A rs73999357
NM_138793.3(CANT1):c.*1479C>A rs886053520
NM_138793.3(CANT1):c.*1484C>A rs886053519
NM_138793.3(CANT1):c.*174G>A rs544997912
NM_138793.3(CANT1):c.*1794T>G rs192546263
NM_138793.3(CANT1):c.*223C>T rs886053524
NM_138793.3(CANT1):c.*301C>T rs576222698
NM_138793.3(CANT1):c.*445G>A rs149131650
NM_138793.3(CANT1):c.*450A>G rs886053523
NM_138793.3(CANT1):c.*550A>C rs886053522
NM_138793.3(CANT1):c.*57G>A rs886053525
NM_138793.3(CANT1):c.*753C>A rs745568057
NM_138793.3(CANT1):c.*813G>C rs535754990
NM_138793.3(CANT1):c.*876G>A rs551101097
NM_138793.3(CANT1):c.*89G>A rs146866436
NM_138793.3(CANT1):c.*919C>G rs777105575
NM_138793.3(CANT1):c.*998G>C rs78037898
NM_138793.3(CANT1):c.-124T>G rs867691817
NM_138793.3(CANT1):c.-139T>C rs548338706
NM_138793.3(CANT1):c.-179G>A rs886053529
NM_138793.3(CANT1):c.-276G>A rs886053530
NM_138793.3(CANT1):c.-291C>T rs143084065
NM_138793.3(CANT1):c.-322C>A rs868277630
NM_138793.3(CANT1):c.-341-15C>T rs886053531
NM_138793.3(CANT1):c.-348G>T rs531435158
NM_138793.3(CANT1):c.-359G>A rs886053532
NM_138793.3(CANT1):c.-397A>C rs377716176
NM_138793.3(CANT1):c.-428C>T rs886053533
NM_138793.3(CANT1):c.-56C>G rs886053528
NM_138793.3(CANT1):c.125G>A (p.Arg42His) rs886053526
NM_138793.3(CANT1):c.250G>C (p.Ala84Pro) rs767659113
NM_138793.3(CANT1):c.287C>T (p.Pro96Leu) rs375718883
NM_138793.3(CANT1):c.433G>T (p.Val145Leu) rs140112462
NM_138793.3(CANT1):c.556G>A (p.Val186Ile) rs199516699
NM_138793.3(CANT1):c.56G>A (p.Arg19Gln) rs144060377
NM_138793.3(CANT1):c.61A>G (p.Ser21Gly) rs886053527
NM_138793.3(CANT1):c.643G>T (p.Glu215Ter)
NM_138793.3(CANT1):c.809G>A (p.Arg270Gln) rs764240311
NM_138793.3(CANT1):c.830C>T (p.Pro277Leu) rs774920895
NM_138793.3(CANT1):c.835+10G>C rs779296231
NM_138793.3(CANT1):c.916C>T (p.Arg306Cys) rs569632479

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