ClinVar Miner

List of variants reported as likely pathogenic for Weaver syndrome

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Total variants: 8
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HGVS dbSNP
NM_004456.4(EZH2):c.1990G>T (p.Asp664Tyr) rs1060503430
NM_004456.4(EZH2):c.2000T>C (p.Met667Thr)
NM_004456.4(EZH2):c.2132A>T (p.His711Leu)
NM_004456.4(EZH2):c.2187T>G (p.Phe729Leu)
NM_004456.4(EZH2):c.2196-10_2197dup
NM_004456.4(EZH2):c.2213C>A (p.Ala738Asp) rs1131692184
NM_004456.4(EZH2):c.2218_2220dup (p.Lys740dup) rs1563181659
NM_004456.4(EZH2):c.2236A>G (p.Arg746Gly) rs587783627

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