ClinVar Miner

List of variants studied for Intellectual disability, X-linked 102 by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001356.5(DDX3X):c.1171-1G>C rs1602134459
NM_001356.5(DDX3X):c.1354A>T (p.Lys452Ter) rs2519522876
NM_001356.5(DDX3X):c.1463G>C (p.Arg488Pro) rs796052235
NM_001356.5(DDX3X):c.1547T>C (p.Phe516Ser)
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.250TTC[1] (p.Phe85del) rs761693623
NM_001356.5(DDX3X):c.828dup (p.Glu277fs) rs2519514409

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