List of variants reported as uncertain significance for Coffin-Lowry syndrome

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_004586.3(RPS6KA3):c.1166C>A (p.Ala389Asp)	rs2519675851
NM_004586.3(RPS6KA3):c.1443+6T>C	rs2067519822
NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met)	rs2148650076
NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile)	rs937495958
NM_004586.3(RPS6KA3):c.2021T>G (p.Leu674Arg)
NM_004586.3(RPS6KA3):c.2204T>A (p.Ile735Asn)	rs2519567556
NM_004586.3(RPS6KA3):c.341G>A (p.Arg114Gln)	rs2519763145
NM_004586.3(RPS6KA3):c.512A>G (p.Lys171Arg)	rs2148700476
NM_004586.3(RPS6KA3):c.578A>G (p.Asp193Gly)
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp)	rs1555939335
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del)	rs1555933769
NM_004586.3(RPS6KA3):c.967A>G (p.Arg323Gly)

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