List of variants in gene DDX3X reported as likely pathogenic for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001356.5(DDX3X):c.1415A>C (p.His472Pro)	rs2063923221
NM_001356.5(DDX3X):c.1415A>G (p.His472Arg)	rs2063923221
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys)	rs796052234
NM_001356.5(DDX3X):c.1538T>C (p.Val513Ala)	rs1569240261
NM_001356.5(DDX3X):c.1839del (p.Phe613fs)	rs2063940433
NM_001356.5(DDX3X):c.1859dup (p.Ser620fs)	rs2063941013
NM_001356.5(DDX3X):c.536_543+5inv
NM_001356.5(DDX3X):c.878C>T (p.Ser293Phe)
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys)	rs1555953548

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