ClinVar Miner

List of variants in gene RPS6KA3 studied for Hypertelorism; Micrognathia; Low-set ears; Deep philtrum; Specific learning disability; Triangular face; Low anterior hairline; Mitral valve prolapse; Gastroesophageal reflux; Low posterior hairline; Abnormality of the lower limb; Thoracolumbar scoliosis; Clinodactyly; Ventricular septal defect

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)	rs1057518914

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