List of variants reported as pathogenic for Okur-Chung neurodevelopmental syndrome

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_177559.3(CSNK2A1):c.127C>T (p.Arg43Ter)
NM_177559.3(CSNK2A1):c.139C>G (p.Arg47Gly)	rs886041956
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln)	rs869312845
NM_177559.3(CSNK2A1):c.149A>C (p.Tyr50Ser)	rs869312849
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys)	rs869312849
NM_177559.3(CSNK2A1):c.1A>G (p.Met1Val)	rs1568532361
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His)	rs1057518092
NM_177559.3(CSNK2A1):c.376del (p.Gln126fs)	rs2018375147
NM_177559.3(CSNK2A1):c.400C>T (p.Arg134Ter)	rs2122537652
NM_177559.3(CSNK2A1):c.466G>C (p.Asp156His)	rs1568512728
NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu)	rs1064795110
NM_177559.3(CSNK2A1):c.524A>G (p.Asp175Gly)	rs869312848
NM_177559.3(CSNK2A1):c.529G>A (p.Gly177Ser)	rs1555762734
NM_177559.3(CSNK2A1):c.572G>A (p.Arg191Gln)
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	rs869312840
NM_177559.3(CSNK2A1):c.824+2T>C	rs869312846
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp)	rs2018124491
NM_177559.3(CSNK2A1):c.96del (p.Glu32fs)	rs1600392059

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