List of variants studied for X-linked intellectual disability-hypotonia-movement disorder syndrome by Baylor Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)	rs1057518707
NM_001356.5(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup)	rs1602134468
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu)	rs2063927856
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)	rs1064795387
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)	rs1555954284
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)	rs1555954380
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu)	rs1057519430
NM_001356.5(DDX3X):c.544T>G (p.Phe182Val)	rs2063875155
NM_001356.5(DDX3X):c.589_590dup (p.Thr198fs)
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
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.931C>T (p.Arg311Ter)	rs1453153749

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