ClinVar Miner

List of variants in gene CANT1 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
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.511A>T (p.Ile171Phe) rs1014317450 0.00001
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu) rs761853610 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
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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