ClinVar Miner

List of variants reported as pathogenic for Warsaw breakage syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_030653.4(DDX11):c.1133G>C (p.Arg378Pro) rs368266910
NM_030653.4(DDX11):c.2271+2T>C rs730880279
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) rs1565941025
NM_030653.4(DDX11):c.2689_2691del (p.Lys897del) rs730880280
NM_030653.4(DDX11):c.788G>A (p.Arg263Gln) rs201968272

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