ClinVar Miner

List of variants in gene RPS6KA3 reported as pathogenic for Coffin-Lowry syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 30
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NM_004586.3(RPS6KA3):c.1845del (p.Gly614_Tyr615insTer) rs1569190602
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter)
NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter) rs122454128
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004586.3(RPS6KA3):c.2196del (p.Ile735fs)
NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val) rs122454124
NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe) rs122454126
NM_004586.3(RPS6KA3):c.326-1G>C rs587776755
NM_004586.3(RPS6KA3):c.327del (p.Arg110fs) rs1555943492
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.340C>T (p.Arg114Trp) rs122454127
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys) rs122454130
NM_004586.3(RPS6KA3):c.632-1G>C rs398124177
NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala) rs122454125
NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter)
NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser) rs122454131
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter) rs869320705
NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter)
RPS6KA3, 1-BP DEL, 2144C
RPS6KA3, 187-BP DEL, NT406
RPS6KA3, 2-BP DEL, 451AG
RPS6KA3, 3-BP DEL, 1428TAT
RPS6KA3, DUP EXONS 17-20, NT1959
RPS6KA3, IVS12, A-G, -2
RPS6KA3, IVS3, L1 INS, -8
RPS6KA3, IVS5, A-G, -11
RPS6KA3, IVS6, A-G, +3

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