ClinVar Miner

List of variants studied for Coffin-Lowry syndrome by Center for Human Genetics, Inc,Center for Human Genetics, Inc

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Total variants: 8
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NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter) rs1160828151
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs) rs1555924704
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
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp) rs1555939335
NM_004586.3(RPS6KA3):c.774+1G>C rs1555939331
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del) rs1555933769

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