List of variants reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004985.5(KRAS):c.194_195insGGCAATGAGGGACCAGTACAG (p.Tyr64_Ser65insArgAlaMetArgAspGlnTyr)	rs2141509973
NM_004985.5(KRAS):c.53C>T (p.Ala18Val)	rs2135806030
NM_006912.6(RIT1):c.67A>G (p.Lys23Glu)	rs869312687

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