ClinVar Miner

List of variants studied for Coffin-Lowry syndrome by Mendelics

Included ClinVar conditions (2):

Coffin-Lowry syndrome
Coffin-Lowry syndrome; Intellectual disability, X-linked 19

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)	rs144984628	0.00133
NM_004586.3(RPS6KA3):c.243+1G>A	rs1603428228
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn)	rs1603425338

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