List of variants studied for Coffin-Lowry syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004586.3(RPS6KA3):c.1540C>T (p.Arg514Ter)	rs2519640130
NM_004586.3(RPS6KA3):c.1686dup (p.Gly563fs)	rs2519625017
NM_004586.3(RPS6KA3):c.594T>G (p.Asn198Lys)
NM_004586.3(RPS6KA3):c.602T>C (p.Leu201Pro)	rs2519735957
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)	rs2519686958

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