List of variants studied for CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys)	rs748653573	0.00002
NM_001904.4(CTNNB1):c.1272_1275del (p.Ser425fs)	rs398122907
NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs)	rs1057519379
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)	rs397514554
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)	rs886039332
NM_001904.4(CTNNB1):c.1672C>T (p.Gln558Ter)	rs1131692181
NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter)	rs1057519380
NM_001904.4(CTNNB1):c.705dup (p.Gly236fs)	rs587777412
NM_001904.4(CTNNB1):c.925C>T (p.Gln309Ter)	rs376393123

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