ClinVar Miner

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

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)	rs2230488	0.24795
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)	rs144984628	0.00128

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