ClinVar Miner

List of variants reported as uncertain significance for Desbuquois dysplasia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP
NM_001159773.2(CANT1):c.*1032G>T rs139951975
NM_001159773.2(CANT1):c.*1093C>T rs8078860
NM_001159773.2(CANT1):c.*1167G>A rs186436891
NM_001159773.2(CANT1):c.*1264_*1265dup rs886053521
NM_001159773.2(CANT1):c.*1376C>G rs139673784
NM_001159773.2(CANT1):c.*1424_*1427GAAG[1] rs567566510
NM_001159773.2(CANT1):c.*1476G>A rs73999357
NM_001159773.2(CANT1):c.*1479C>A rs886053520
NM_001159773.2(CANT1):c.*1484C>A rs886053519
NM_001159773.2(CANT1):c.*174G>A rs544997912
NM_001159773.2(CANT1):c.*1794T>G rs192546263
NM_001159773.2(CANT1):c.*223C>T rs886053524
NM_001159773.2(CANT1):c.*301C>T rs576222698
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.*57G>A rs886053525
NM_001159773.2(CANT1):c.*753C>A rs745568057
NM_001159773.2(CANT1):c.*813G>C rs535754990
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.-153G>T rs531435158
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+79T>C rs548338706
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.-96C>T rs143084065
NM_001159773.2(CANT1):c.125G>A (p.Arg42His) rs886053526
NM_001159773.2(CANT1):c.250G>C (p.Ala84Pro) rs767659113
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.556G>A (p.Val186Ile) rs199516699
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377
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.809G>A (p.Arg270Gln) rs764240311
NM_001159773.2(CANT1):c.830C>T (p.Pro277Leu) rs774920895
NM_001159773.2(CANT1):c.835+10G>C rs779296231
NM_001159773.2(CANT1):c.916C>T (p.Arg306Cys) rs569632479
NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln) rs1457612277
NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg)
NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser)
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys)
NM_022166.4(XYLT1):c.1813A>T (p.Asn605Tyr)
NM_022166.4(XYLT1):c.1982G>A (p.Arg661Gln)
NM_022166.4(XYLT1):c.1990G>A (p.Glu664Lys)
NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.