ClinVar Miner

List of variants in gene CANT1 studied for Desbuquois dysplasia 1

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Total variants: 18
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5'UTR-exon 1 deletion (2703 bp)
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

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