List of variants reported as pathogenic for Desbuquois dysplasia 1 by OMIM

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001159773.2(CANT1):c.228dup (p.Trp77fs)	rs587776896	0.00006
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs)	rs587776897	0.00006
NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro)	rs150181226	0.00004
NM_001159773.2(CANT1):c.676G>A (p.Val226Met)	rs377546036	0.00004
NM_001159773.2(CANT1):c.-147+1G>A	rs587776951	0.00001
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu)	rs267606700	0.00001
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys)	rs267606701	0.00001
NM_001159773.2(CANT1):c.899G>A (p.Arg300His)	rs267606699	0.00001
5'UTR-exon 1 deletion (2703 bp)
NM_001159773.2(CANT1):c.1079C>A (p.Ala360Asp)	rs387907081
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.643G>A (p.Glu215Lys)	rs773215035
NM_001159773.2(CANT1):c.734del (p.Pro245fs)	rs587776509
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs)	rs587776895
NM_001159773.2(CANT1):c.909_910insGCCGC (p.Gln304fs)	rs587776510

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