ClinVar Miner

List of variants studied for Coffin-Lowry syndrome by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter) rs1603422403

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