List of variants studied for Severe intellectual disability-progressive spastic diplegia syndrome by GenomeConnect - Simons Searchlight

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)	rs886039332
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)	rs1064796453
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs)	rs1553632361
NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter)	rs886041553
NM_001904.4(CTNNB1):c.211dup (p.Ser71fs)	rs1575315766

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