ClinVar Miner

List of variants studied for Desbuquois dysplasia by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
5'UTR-exon 1 deletion (2703 bp)
NM_001159772.2(CANT1):c.1079C>A (p.Ala360Asp) rs387907081
NM_001159772.2(CANT1):c.676G>A (p.Val226Met) rs377546036
NM_001159773.2(CANT1):c.-147+1G>A rs587776951
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.671T>C (p.Leu224Pro) rs150181226
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.1290-1G>A rs1567300982
NM_022166.4(XYLT1):c.1290-2A>C rs587777370
NM_022166.4(XYLT1):c.1441C>T (p.Arg481Trp) rs587777366
NM_022166.4(XYLT1):c.1588-3C>T rs201818754
NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer) rs1085307563
NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys) rs587777367
NM_022166.4(XYLT1):c.276dup (p.Pro93fs) rs587777369
NM_022166.4(XYLT1):c.281_306del (p.Gln94fs) rs1567215615
NM_022166.4(XYLT1):c.319G>T (p.Gly107Ter) rs1567215600
NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter) rs587777368
NW_019805500.1:g.472169CCG[(100-833)]

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