List of variants reported as likely pathogenic for Weaver syndrome by Invitae

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004456.5(EZH2):c.1990G>T (p.Asp664Tyr)	rs1060503430
NM_004456.5(EZH2):c.2000T>C (p.Met667Thr)	rs1584875099
NM_004456.5(EZH2):c.2048C>A (p.Thr683Asn)	rs1802412684
NM_004456.5(EZH2):c.2132A>T (p.His711Leu)	rs1584862929
NM_004456.5(EZH2):c.2187T>G (p.Phe729Leu)	rs1584862620
NM_004456.5(EZH2):c.2196-10_2197dup	rs1584844589
NM_004456.5(EZH2):c.2218_2220dup (p.Lys740dup)	rs1563181659

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