List of variants reported as pathogenic for autosomal recessive non-syndromic intellectual disability by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)	rs200667343	0.00007
NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter)	rs1400164869	0.00003
NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter)	rs779620838	0.00001
NM_001040616.3(LINS1):c.304del (p.Arg102fs)	rs760477654
NM_001080510.5(METTL23):c.169_172del (p.His57fs)	rs587777644
NM_001080510.5(METTL23):c.322+2dup
NM_001160372.4(TRAPPC9):c.175del (p.His59fs)
NM_006618.5(KDM5B):c.2117del (p.Cys706fs)
NM_006618.5(KDM5B):c.326_327del (p.Lys109fs)
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)	rs749829859
NM_020374.4(C12orf4):c.187G>T (p.Glu63Ter)
NM_020374.4(FERRY3):c.1043_1044del (p.Thr348fs)
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)	rs1264222654
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del)	rs750035706

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