List of variants reported as pathogenic for intellectual developmental disorder, autosomal dominant 63, with macrocephaly by SIB Swiss Institute of Bioinformatics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_007118.4(TRIO):c.3232C>G (p.Arg1078Gly)	rs1554065887
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln)	rs1745369142
NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile)	rs879255628
NM_007118.4(TRIO):c.4382C>T (p.Pro1461Leu)	rs1747667518

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