ClinVar Miner

List of variants reported as likely benign for Coffin-Lowry syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_004586.3(RPS6KA3):c.1362T>G (p.Asp454Glu) rs762253691 0.00002
NM_004586.3(RPS6KA3):c.1467G>A (p.Val489=) rs1277225078 0.00002
NM_004586.3(RPS6KA3):c.20C>G (p.Ala7Gly) rs1365070717 0.00001
NM_004586.3(RPS6KA3):c.407-4T>G rs1040089025 0.00001
NM_004586.3(RPS6KA3):c.631+9A>C rs747820943 0.00001
NM_004586.3(RPS6KA3):c.1000-10T>C
NM_004586.3(RPS6KA3):c.1000-18T>C
NM_004586.3(RPS6KA3):c.1000-7C>T rs1555933444
NM_004586.3(RPS6KA3):c.1000-8C>T
NM_004586.3(RPS6KA3):c.1038T>C (p.Pro346=)
NM_004586.3(RPS6KA3):c.1062A>G (p.Thr354=)
NM_004586.3(RPS6KA3):c.1227+14T>C
NM_004586.3(RPS6KA3):c.1227+18T>C
NM_004586.3(RPS6KA3):c.1227+7G>A
NM_004586.3(RPS6KA3):c.126+19C>T
NM_004586.3(RPS6KA3):c.127-19C>G
NM_004586.3(RPS6KA3):c.1354-15A>G
NM_004586.3(RPS6KA3):c.1354-17A>C
NM_004586.3(RPS6KA3):c.1377C>T (p.Asp459=)
NM_004586.3(RPS6KA3):c.1413A>G (p.Gly471=)
NM_004586.3(RPS6KA3):c.1422A>G (p.Pro474=)
NM_004586.3(RPS6KA3):c.1602+13A>C
NM_004586.3(RPS6KA3):c.1602+17C>T
NM_004586.3(RPS6KA3):c.1603-19T>G
NM_004586.3(RPS6KA3):c.17T>C (p.Leu6Pro) rs1429116502
NM_004586.3(RPS6KA3):c.1842-20T>C
NM_004586.3(RPS6KA3):c.1851A>G (p.Pro617=)
NM_004586.3(RPS6KA3):c.1920C>T (p.Leu640=)
NM_004586.3(RPS6KA3):c.1959+17A>C
NM_004586.3(RPS6KA3):c.1960-16A>T
NM_004586.3(RPS6KA3):c.2037C>T (p.Ile679=)
NM_004586.3(RPS6KA3):c.2100+15A>G
NM_004586.3(RPS6KA3):c.2101-19C>A
NM_004586.3(RPS6KA3):c.2118A>G (p.Thr706=)
NM_004586.3(RPS6KA3):c.2205C>T (p.Ile735=)
NM_004586.3(RPS6KA3):c.225G>T (p.Gly75=) rs1555950495
NM_004586.3(RPS6KA3):c.243+19C>T
NM_004586.3(RPS6KA3):c.244-17C>T
NM_004586.3(RPS6KA3):c.244-20T>C
NM_004586.3(RPS6KA3):c.244-4G>T
NM_004586.3(RPS6KA3):c.244-7A>C
NM_004586.3(RPS6KA3):c.318A>G (p.Thr106=)
NM_004586.3(RPS6KA3):c.325+16A>G
NM_004586.3(RPS6KA3):c.326-20A>C
NM_004586.3(RPS6KA3):c.387T>C (p.Phe129=)
NM_004586.3(RPS6KA3):c.406+11G>A rs2148703536
NM_004586.3(RPS6KA3):c.406+14G>A
NM_004586.3(RPS6KA3):c.486+20T>G
NM_004586.3(RPS6KA3):c.51C>T (p.Ser17=)
NM_004586.3(RPS6KA3):c.593+7A>C
NM_004586.3(RPS6KA3):c.594-18T>C
NM_004586.3(RPS6KA3):c.631+17C>T
NM_004586.3(RPS6KA3):c.70-15C>T
NM_004586.3(RPS6KA3):c.70-19C>A
NM_004586.3(RPS6KA3):c.765T>A (p.Gly255=)
NM_004586.3(RPS6KA3):c.771A>G (p.Leu257=)
NM_004586.3(RPS6KA3):c.775-17A>G
NM_004586.3(RPS6KA3):c.83T>C (p.Ile28Thr)
NM_004586.3(RPS6KA3):c.846-13A>G
NM_004586.3(RPS6KA3):c.877C>G (p.Pro293Ala)
NM_004586.3(RPS6KA3):c.934+14_934+17del

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