ClinVar Miner

List of variants reported as pathogenic for Severe intellectual disability-progressive spastic diplegia syndrome by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001904.4(CTNNB1):c.133del (p.Ser45fs)	rs2125617589
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)	rs886039332
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)	rs748294403

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