ClinVar Miner

List of variants in gene EZH2 reported as not provided

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004456.5(EZH2):c.553G>C (p.Asp185His) rs2302427 0.05998
NM_004456.5(EZH2):c.1240+48G>A rs75046025 0.01183
NM_004456.5(EZH2):c.1240+9C>A rs114320893 0.00121
NM_004456.5(EZH2):c.965A>G (p.Asn322Ser) rs151023145 0.00032
NM_004456.5(EZH2):c.1459G>A (p.Ala487Thr) rs201135441 0.00002
NM_004456.5(EZH2):c.1181G>C (p.Gly394Ala) rs587778305
NM_004456.5(EZH2):c.1810G>A (p.Val604Met) rs587778302
NM_004456.5(EZH2):c.1844C>T (p.Ser615Phe) rs587778301
NM_004456.5(EZH2):c.1876G>A (p.Val626Met) rs587783625
NM_004456.5(EZH2):c.2044G>A (p.Ala682Thr) rs397515547
NM_004456.5(EZH2):c.2195+1G>A
NM_004456.5(EZH2):c.2233G>A (p.Glu745Lys) rs397515548
NM_004456.5(EZH2):c.395C>T (p.Pro132Leu)
NM_004456.5(EZH2):c.458A>G (p.Tyr153Cys) rs797044844
NM_004456.5(EZH2):c.557ATG[3] (p.Asp189del) rs587778303
NM_004456.5(EZH2):c.848C>T (p.Thr283Met) rs587778304

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