List of variants in gene combination CTNNB1, LOC126806658 reported as pathogenic for Severe intellectual disability-progressive spastic diplegia syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001904.4(CTNNB1):c.133del (p.Ser45fs)	rs2125617589
NM_001904.4(CTNNB1):c.163G>T (p.Glu55Ter)	rs2125617859
NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter)	rs886041553
NM_001904.4(CTNNB1):c.211dup (p.Ser71fs)	rs1575315766
NM_001904.4(CTNNB1):c.242-3C>A
NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter)	rs1369821061
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)	rs775104326
NM_001904.4(CTNNB1):c.306del (p.Thr102_Leu103insTer)	rs2078141730
NM_001904.4(CTNNB1):c.337C>T (p.Gln113Ter)	rs1553630279
NM_001904.4(CTNNB1):c.427_470dup (p.Lys158_Leu159insMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys)	rs1553630304
NM_001904.4(CTNNB1):c.468dup (p.Thr157fs)	rs1575316657
NM_001904.4(CTNNB1):c.495+1G>C	rs1559468403
NM_001904.4(CTNNB1):c.564dup (p.Met189fs)	rs2125622579
NM_001904.4(CTNNB1):c.646G>A (p.Gly216Arg)	rs2125623075
NM_001904.4(CTNNB1):c.705dup (p.Gly236fs)	rs587777412
NM_001904.4(CTNNB1):c.81dup (p.Gln28fs)

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