List of variants studied for intellectual developmental disorder with autism and macrocephaly by Baylor Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001170629.2(CHD8):c.4921+5G>A	rs377595194	0.00020
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)	rs553367989	0.00019
NM_001170629.2(CHD8):c.412G>C (p.Val138Leu)	rs767023297	0.00001
NM_001170629.2(CHD8):c.7079G>A (p.Arg2360His)	rs1887513652	0.00001
NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu)	rs967570036	0.00001
NM_001170629.2(CHD8):c.2434C>T (p.Arg812Trp)	rs1057518651
NM_001170629.2(CHD8):c.2565del (p.Asn855fs)	rs1566427770
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter)	rs1555314211
NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter)	rs1555313934
NM_001170629.2(CHD8):c.596A>C (p.Lys199Thr)
NM_001170629.2(CHD8):c.6060G>C (p.Glu2020Asp)
NM_001170629.2(CHD8):c.6130C>T (p.Arg2044Ter)
NM_001170629.2(CHD8):c.6518C>A (p.Ser2173Ter)	rs781575717

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