ClinVar Miner

List of variants in gene DDX3X reported as uncertain significance for X-linked disease

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001356.5(DDX3X):c.1537G>A (p.Val513Ile) rs2063927856 0.00001
NM_001356.5(DDX3X):c.122C>A (p.Pro41His) rs1341824034
NM_001356.5(DDX3X):c.1261T>G (p.Trp421Gly) rs2147356713
NM_001356.5(DDX3X):c.1329G>T (p.Leu443=)
NM_001356.5(DDX3X):c.1421A>T (p.Asp474Val) rs2147358546
NM_001356.5(DDX3X):c.1460T>C (p.Phe487Ser)
NM_001356.5(DDX3X):c.1528G>A (p.Val510Met)
NM_001356.5(DDX3X):c.1769G>A (p.Ser590Asn)
NM_001356.5(DDX3X):c.1922G>A (p.Gly641Asp)
NM_001356.5(DDX3X):c.250TTC[1] (p.Phe85del)
NM_001356.5(DDX3X):c.58G>T (p.Asp20Tyr) rs1569233520
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
NM_001356.5(DDX3X):c.67_72dup (p.Ser24_Asp25insSerSer)
NM_001356.5(DDX3X):c.692C>G (p.Thr231Ser) rs2063884615
NM_001356.5(DDX3X):c.824C>T (p.Thr275Met) rs2063889558
NM_001356.5(DDX3X):c.846C>A (p.Ile282=) rs2063889864
NM_001356.5(DDX3X):c.857C>A (p.Ala286Asp) rs2063889955
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del) rs1555953527

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