ClinVar Miner

List of variants reported as likely pathogenic for Coffin-Lowry syndrome

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Total variants: 14
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NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter) rs1160828151
NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val)
NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His)
NM_004586.3(RPS6KA3):c.1762G>C (p.Glu588Gln) rs1555927532
NM_004586.3(RPS6KA3):c.1823T>G (p.Leu608Arg)
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs) rs1555924704
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_004586.3(RPS6KA3):c.443A>T (p.Asp148Val)
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile) rs1325953089
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu) rs1555939456
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn) rs1603425338
NM_004586.3(RPS6KA3):c.774+1G>C rs1555939331

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