List of variants in gene EZH2 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_004456.5(EZH2):c.1512G>A (p.Trp504Ter)	rs1563205364
NM_004456.5(EZH2):c.1730C>T (p.Pro577Leu)	rs1554486390
NM_004456.5(EZH2):c.2007C>G (p.Ser669Arg)	rs886039601
NM_004456.5(EZH2):c.2069G>A (p.Arg690His)	rs1554481435
NM_004456.5(EZH2):c.2084C>T (p.Ser695Leu)	rs2129467664
NM_004456.5(EZH2):c.2187dup (p.Asp730Ter)	rs797045568
NM_004456.5(EZH2):c.2191T>C (p.Tyr731His)	rs1554481113
NM_004456.5(EZH2):c.2221T>C (p.Tyr741His)	rs1064795225
NM_004456.5(EZH2):c.394C>A (p.Pro132Thr)
NM_004456.5(EZH2):c.398A>G (p.Tyr133Cys)	rs1808822115
NM_004456.5(EZH2):c.434T>G (p.Phe145Cys)
NM_004456.5(EZH2):c.550G>C (p.Asp184His)	rs1064796617

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