List of variants in gene RPS6KA3 reported as pathogenic for Inborn genetic diseases

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter)	rs1555928716
NM_004586.3(RPS6KA3):c.1612del (p.Arg538fs)	rs2067399344
NM_004586.3(RPS6KA3):c.1672C>T (p.Arg558Ter)
NM_004586.3(RPS6KA3):c.1699C>T (p.Gln567Ter)	rs1555927554
NM_004586.3(RPS6KA3):c.1859del (p.Asn620fs)
NM_004586.3(RPS6KA3):c.1970C>G (p.Ser657Ter)	rs2067184984
NM_004586.3(RPS6KA3):c.486G>A (p.Glu162=)	rs2068213764
NM_004586.3(RPS6KA3):c.712G>T (p.Glu238Ter)	rs1555939377
NM_004586.3(RPS6KA3):c.774+1G>A	rs1555939331

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