List of variants reported as pathogenic for autosomal recessive non-syndromic intellectual disability by MGZ Medical Genetics Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_001160372.4(TRAPPC9):c.1840C>T (p.Arg614Ter)

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