List of variants reported as pathogenic for intellectual disability, autosomal dominant 40 by OMIM

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_032436.4(CHAMP1):c.1002G>A (p.Trp334Ter)	rs879255261
NM_032436.4(CHAMP1):c.1043G>A (p.Trp348Ter)	rs2139420056
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)	rs797044962
NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter)	rs782397980
NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter)	rs200070245
NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs)	rs797044963
NM_032436.4(CHAMP1):c.1876_1877del (p.Ser626fs)	rs2139422092
NM_032436.4(CHAMP1):c.635del (p.Pro212fs)	rs797044961

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