ClinVar Miner

List of variants in gene DDX11 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_030653.4(DDX11):c.254A>G (p.His85Arg) rs138980593 0.00578
NM_030653.4(DDX11):c.419G>A (p.Arg140Gln) rs149257160 0.00438
NM_030653.4(DDX11):c.147G>A (p.Gly49=) rs149147901 0.00225
NM_030653.4(DDX11):c.2271+4C>T rs146923888 0.00130
NM_030653.4(DDX11):c.*69G>A rs563857266 0.00076
NM_030653.4(DDX11):c.545C>T (p.Pro182Leu) rs140186422 0.00057
NM_030653.4(DDX11):c.639-6A>T rs555397858 0.00025
NM_030653.4(DDX11):c.2466C>G (p.Ala822=) rs142205480 0.00003
NC_000012.12:g.31125562_31125567dup
NM_030653.4(DDX11):c.*17T>G
NM_030653.4(DDX11):c.1221C>T (p.Ser407=)
NM_030653.4(DDX11):c.1437C>T (p.Asn479=)
NM_030653.4(DDX11):c.1522-16C>A
NM_030653.4(DDX11):c.1641C>T (p.Ala547=)
NM_030653.4(DDX11):c.1840C>T (p.Arg614Trp)
NM_030653.4(DDX11):c.294C>T (p.Cys98=)
NM_030653.4(DDX11):c.499A>G (p.Arg167Gly)
NM_030653.4(DDX11):c.546G>A (p.Pro182=)
NM_030653.4(DDX11):c.633G>A (p.Ala211=)
NM_030653.4(DDX11):c.638+1040C>T
NM_030653.4(DDX11):c.639-11CA[3] rs540967416
NM_030653.4(DDX11):c.856G>A (p.Val286Met)
NM_030653.4(DDX11):c.906G>A (p.Glu302=)
NM_030653.4(DDX11):c.963G>A (p.Glu321=)

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