List of variants in gene DDX3X reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001356.5(DDX3X):c.1052G>C (p.Arg351Pro)
NM_001356.5(DDX3X):c.118C>T (p.Pro40Ser)	rs1602122138
NM_001356.5(DDX3X):c.1249C>A (p.Gln417Lys)	rs2147356661
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His)	rs796052235
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu)	rs2063927856
NM_001356.5(DDX3X):c.389_393del (p.Lys130fs)	rs2063866799
NM_001356.5(DDX3X):c.45+2T>A
NM_001356.5(DDX3X):c.744C>T (p.Gly248=)	rs1569238002
NM_001356.5(DDX3X):c.79C>T (p.Gln27Ter)	rs1602119250
NM_001356.5(DDX3X):c.822_824del (p.Thr275del)	rs1569238251
NM_001356.5(DDX3X):c.916A>G (p.Ile306Val)	rs2147353985

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