ClinVar Miner

List of variants in gene LOC130068032, RPS6KA3 studied for Coffin-Lowry syndrome

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004586.3(RPS6KA3):c.20C>G (p.Ala7Gly) rs1365070717 0.00001
NM_004586.3(RPS6KA3):c.48G>C (p.Glu16Asp) rs1327104134 0.00001
NM_004586.3(RPS6KA3):c.17T>C (p.Leu6Pro) rs1429116502
NM_004586.3(RPS6KA3):c.51C>T (p.Ser17=)
NM_004586.3(RPS6KA3):c.53C>G (p.Pro18Arg)
NM_004586.3(RPS6KA3):c.5_13del (p.Pro2_Ala4del)
NM_004586.3(RPS6KA3):c.62G>T (p.Ser21Ile) rs996264009

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