List of variants reported as pathogenic for Warsaw breakage syndrome

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_030653.4(DDX11):c.1763-1G>C	rs148856317	0.00023
NM_030653.4(DDX11):c.1403dup (p.Ser469fs)	rs778363138	0.00013
NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter)	rs201180239	0.00005
NC_000012.12:g.31073186_31074821del
NM_030653.4(DDX11):c.1133G>C (p.Arg378Pro)	rs368266910
NM_030653.4(DDX11):c.1482+2T>C	rs1944933634
NM_030653.4(DDX11):c.1862dup (p.Thr622fs)	rs766120336
NM_030653.4(DDX11):c.2017G>T (p.Glu673Ter)	rs1946297931
NM_030653.4(DDX11):c.2209C>T (p.Gln737Ter)
NM_030653.4(DDX11):c.2230C>T (p.Gln744Ter)	rs776627170
NM_030653.4(DDX11):c.2271+2T>C	rs730880279
NM_030653.4(DDX11):c.2373-2A>G	rs1946656233
NM_030653.4(DDX11):c.2457+1G>A
NM_030653.4(DDX11):c.2457+1G>T	rs745501673
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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