ClinVar Miner

List of variants in gene RPS6KA3 reported as uncertain significance by Ambry Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004586.3(RPS6KA3):c.137G>A (p.Ser46Asn) rs1187541060 0.00002
NM_004586.3(RPS6KA3):c.-6G>A
NM_004586.3(RPS6KA3):c.1034A>C (p.Lys345Thr)
NM_004586.3(RPS6KA3):c.1269A>T (p.Glu423Asp) rs2067605278
NM_004586.3(RPS6KA3):c.1594G>A (p.Ala532Thr)
NM_004586.3(RPS6KA3):c.1633A>G (p.Ile545Val) rs1555927575
NM_004586.3(RPS6KA3):c.2012C>T (p.Ala671Val)
NM_004586.3(RPS6KA3):c.2203dup (p.Ile735fs)
NM_004586.3(RPS6KA3):c.296T>C (p.Met99Thr)
NM_004586.3(RPS6KA3):c.594-10dup rs755566588
NM_004586.3(RPS6KA3):c.736A>G (p.Thr246Ala)
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn) rs1603425338
NM_004586.3(RPS6KA3):c.890G>A (p.Ser297Asn) rs2067717120

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