ClinVar Miner

List of variants studied for Desbuquois dysplasia 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP
5'UTR-exon 1 deletion (2703 bp)
NC_000016.9:g.(?_17202532)_(17564673_?)del
NM_001159773.2(CANT1):c.-147+1G>A rs587776951
NM_001159773.2(CANT1):c.1079C>A (p.Ala360Asp) rs387907081
NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val) rs372631124
NM_001159773.2(CANT1):c.228dup (p.Trp77fs) rs587776896
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs) rs587776897
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.551C>T (p.Thr184Met) rs770371904
NM_001159773.2(CANT1):c.643G>T (p.Glu215Ter) rs773215035
NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro) rs150181226
NM_001159773.2(CANT1):c.676G>A (p.Val226Met) rs377546036
NM_001159773.2(CANT1):c.734del (p.Pro245fs) rs587776509
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu) rs267606700
NM_001159773.2(CANT1):c.897_901GCGCC[3] (p.Ser303fs) rs587776895
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys) rs267606701
NM_001159773.2(CANT1):c.899G>A (p.Arg300His) rs267606699
NM_001159773.2(CANT1):c.909_910insGCCGC (p.Gln304fs) rs587776510
NM_022166.4(XYLT1):c.1217G>A (p.Arg406Gln) rs1457612277
NM_022166.4(XYLT1):c.139G>C (p.Gly47Arg)
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys) rs139179946
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.343G>T (p.Ala115Ser) rs61758388
NM_022166.4(XYLT1):c.830G>T (p.Arg277Leu) rs751753807

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.