ClinVar Miner

List of variants reported as pathogenic for Coffin-Lowry syndrome by Center for Human Genetics, Inc,Center for Human Genetics, Inc

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Total variants: 3

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HGVS	dbSNP
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)	rs1555924331
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter)	rs1555943484
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter)	rs1555943479

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