List of variants in gene RPS6KA3 reported as likely pathogenic for Intellectual disability, X-linked 19

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)	rs1555924331
NM_004586.3(RPS6KA3):c.307AAG[1] (p.Lys104del)	rs2148721833
NM_004586.3(RPS6KA3):c.460G>C (p.Asp154His)	rs2148701796
NM_004586.3(RPS6KA3):c.646A>T (p.Lys216Ter)	rs1555939456
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)	rs2519686958
NM_004586.3(RPS6KA3):c.958G>T (p.Glu320Ter)	rs2067702700

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