ClinVar Miner

List of variants in gene DDX11 studied for Warsaw breakage syndrome

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_030653.4(DDX11):c.2536+13G>A rs3925641 0.53836
NM_030653.4(DDX11):c.2271+18G>A rs10771803 0.53832
NM_030653.4(DDX11):c.2053-15C>T rs7966272 0.53829
NM_030653.4(DDX11):c.2572G>A (p.Val858Ile) rs1046457 0.53816
NM_030653.4(DDX11):c.684+8A>G rs7308773 0.53493
NM_030653.4(DDX11):c.855T>C (p.Cys285=) rs3881298 0.53406
NM_030653.4(DDX11):c.1983C>T (p.Leu661=) rs1046456 0.53295
NM_030653.4(DDX11):c.880+16A>G rs2075318 0.53242
NM_030653.4(DDX11):c.1699C>G (p.Gln567Glu) rs2075322 0.52892
NM_030653.4(DDX11):c.639-10A>T rs7308754 0.52325
NM_030653.4(DDX11):c.638+15G>A rs4931428 0.47740
NM_030653.4(DDX11):c.1819G>C (p.Ala607Pro) rs74912343 0.07203
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00024
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_030653.4(DDX11):c.2692-1G>A rs376819535 0.00007
NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter) rs201180239 0.00006
NM_030653.4(DDX11):c.2635C>T (p.Arg879Ter) rs780059558 0.00002
NM_030653.4(DDX11):c.2537-1G>A rs1946792293 0.00001
NM_030653.4(DDX11):c.1133G>C (p.Arg378Pro) rs368266910
NM_030653.4(DDX11):c.1180G>A (p.Glu394Lys)
NM_030653.4(DDX11):c.1234G>A (p.Gly412Ser)
NM_030653.4(DDX11):c.1466A>T (p.Asn489Ile) rs776193334
NM_030653.4(DDX11):c.1482+2T>C rs1944933634
NM_030653.4(DDX11):c.1630G>C (p.Ala544Pro)
NM_030653.4(DDX11):c.1862dup (p.Thr622fs) rs766120336
NM_030653.4(DDX11):c.1888del (p.Arg630fs) rs766936952
NM_030653.4(DDX11):c.2017G>T (p.Glu673Ter) rs1946297931
NM_030653.4(DDX11):c.2087G>A (p.Cys696Tyr)
NM_030653.4(DDX11):c.2096T>C (p.Val699Ala) rs2141024198
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>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
NM_030653.4(DDX11):c.792+1G>A
NM_030653.4(DDX11):c.877C>T (p.His293Tyr)

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