ClinVar Miner

List of variants reported as pathogenic for Weaver syndrome

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004456.5(EZH2):c.149T>C (p.Leu50Ser) rs775407864 0.00008
NM_004456.5(EZH2):c.1876G>A (p.Val626Met) rs587783625
NM_004456.5(EZH2):c.2006G>A (p.Ser669Asn) rs2129468233
NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys) rs587783626
NM_004456.5(EZH2):c.2080C>T (p.His694Tyr) rs193921147
NM_004456.5(EZH2):c.2084C>T (p.Ser695Leu) rs2129467664
NM_004456.5(EZH2):c.2185T>C (p.Phe729Leu) rs2129467486
NM_004456.5(EZH2):c.2187dup (p.Asp730Ter) rs797045568
NM_004456.5(EZH2):c.2199C>G (p.Tyr733Ter) rs776312600
NM_004456.5(EZH2):c.2204_2211dup (p.Ala738fs) rs2129465354
NM_004456.5(EZH2):c.2233G>A (p.Glu745Lys) rs397515548
NM_004456.5(EZH2):c.2234A>G (p.Glu745Gly) rs1584844048
NM_004456.5(EZH2):c.2235A>T (p.Glu745Asp) rs1563181538
NM_004456.5(EZH2):c.394C>T (p.Pro132Ser) rs193921148
NM_004456.5(EZH2):c.398A>G (p.Tyr133Cys) rs1808822115
NM_004456.5(EZH2):c.457_459del (p.Tyr153del) rs193921146

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