ClinVar Miner

List of variants in gene RPS6KA3 reported by Ambry Genetics

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) rs2230488 0.24795
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser) rs56218010 0.01619
NM_004586.3(RPS6KA3):c.1080G>A (p.Glu360=) rs114337467 0.00622
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=) rs139718656 0.00549
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_004586.3(RPS6KA3):c.1023T>C (p.His341=) rs150848826 0.00100
NM_004586.3(RPS6KA3):c.244-5T>C rs192189478 0.00083
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp) rs150107747 0.00073
NM_004586.3(RPS6KA3):c.2073C>T (p.Asn691=) rs766164918 0.00017
NM_004586.3(RPS6KA3):c.1242C>T (p.Asn414=) rs142680221 0.00005
NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=) rs773807871 0.00003
NM_004586.3(RPS6KA3):c.1086T>C (p.Thr362=) rs778140223 0.00002
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.1143T>C (p.Leu381=) rs1481912320
NM_004586.3(RPS6KA3):c.1219A>G (p.Ile407Val)
NM_004586.3(RPS6KA3):c.1269A>T (p.Glu423Asp) rs2067605278
NM_004586.3(RPS6KA3):c.1380A>G (p.Pro460=) rs1379311631
NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter) rs1555928716
NM_004586.3(RPS6KA3):c.1594G>A (p.Ala532Thr)
NM_004586.3(RPS6KA3):c.1612del (p.Arg538fs) rs2067399344
NM_004586.3(RPS6KA3):c.1633A>G (p.Ile545Val) rs1555927575
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.2012C>T (p.Ala671Val)
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004586.3(RPS6KA3):c.2203dup (p.Ile735fs)
NM_004586.3(RPS6KA3):c.296T>C (p.Met99Thr)
NM_004586.3(RPS6KA3):c.326-11A>G rs1555943503
NM_004586.3(RPS6KA3):c.486G>A (p.Glu162=) rs2068213764
NM_004586.3(RPS6KA3):c.582A>G (p.Leu194=)
NM_004586.3(RPS6KA3):c.594-10dup rs755566588
NM_004586.3(RPS6KA3):c.632-1G>C rs398124177
NM_004586.3(RPS6KA3):c.712G>T (p.Glu238Ter) rs1555939377
NM_004586.3(RPS6KA3):c.736A>G (p.Thr246Ala)
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn) rs1603425338
NM_004586.3(RPS6KA3):c.774+1G>A rs1555939331
NM_004586.3(RPS6KA3):c.890G>A (p.Ser297Asn) rs2067717120
NM_004586.3(RPS6KA3):c.894T>C (p.Leu298=)

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