ClinVar Miner

List of variants in gene DDX59 reported as pathogenic for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001031725.6(DDX59):c.1859G>T (p.Ter620Leu) rs769198531 0.00001
NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly) rs587777067
NM_001031725.6(DDX59):c.1600G>A (p.Gly534Arg) rs886037652
NM_001031725.6(DDX59):c.185del (p.Phe62fs) rs773114666

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