ClinVar Miner

List of variants in gene DDX3X reported as uncertain significance by Ambry Genetics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001356.5(DDX3X):c.1170+4C>T rs745429365 0.00001
NM_001356.5(DDX3X):c.1180C>T (p.Arg394Cys)
NM_001356.5(DDX3X):c.1226G>A (p.Gly409Asp) rs1057523822
NM_001356.5(DDX3X):c.1625C>T (p.Thr542Ile)
NM_001356.5(DDX3X):c.1770-2A>G rs2063939522
NM_001356.5(DDX3X):c.194A>G (p.Asp65Gly) rs2063850443
NM_001356.5(DDX3X):c.346T>A (p.Phe116Ile)
NM_001356.5(DDX3X):c.472A>G (p.Ile158Val) rs2147350838
NM_001356.5(DDX3X):c.527C>G (p.Pro176Arg) rs2063868825
NM_001356.5(DDX3X):c.569T>G (p.Ile190Ser) rs1555953152
NM_001356.5(DDX3X):c.704T>C (p.Leu235Pro) rs796052224
NM_001356.5(DDX3X):c.773G>T (p.Gly258Val)
NM_001356.5(DDX3X):c.784C>T (p.Arg262Cys) rs1555953406
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del) rs1555953527

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