ClinVar Miner

List of variants in gene EZH2 reported as benign for Weaver syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004456.5(EZH2):c.246+37T>C rs10274535 0.75951
NM_004456.5(EZH2):c.1852-21T>C rs2072407 0.67669
NM_004456.5(EZH2):c.553G>C (p.Asp185His) rs2302427 0.05998
NM_004456.5(EZH2):c.2110+6T>G rs41277434 0.04917
NM_004456.5(EZH2):c.1017T>C (p.Phe339=) rs77051363 0.01331
NM_004456.5(EZH2):c.1731G>A (p.Pro577=) rs41277437 0.01093
NM_004456.5(EZH2):c.485-7G>A rs112932272 0.00984
NM_004456.5(EZH2):c.728+19G>C rs114692729 0.00566
NM_004456.5(EZH2):c.2028T>C (p.Asn676=) rs115842196 0.00457
NM_004456.5(EZH2):c.396T>C (p.Pro132=) rs61732845 0.00454
NM_004456.5(EZH2):c.484+13C>T rs140616632 0.00261
NM_004456.5(EZH2):c.1852-6C>T rs78589034 0.00208
NM_004456.5(EZH2):c.1852-9A>G rs199654408 0.00166
NM_004456.5(EZH2):c.1240+9C>A rs114320893 0.00121
NM_004456.5(EZH2):c.1505+12A>G rs192767078 0.00112
NM_004456.5(EZH2):c.1506-19T>G rs199970231 0.00079
NM_004456.5(EZH2):c.1452A>G (p.Pro484=) rs148524884 0.00048
NM_004456.5(EZH2):c.657T>C (p.Pro219=) rs148843424 0.00034
NM_004456.5(EZH2):c.1392G>A (p.Gly464=) rs202179686 0.00024
NM_004456.5(EZH2):c.1547-10C>T rs202184941 0.00023
NM_004456.5(EZH2):c.1281A>G (p.Pro427=) rs530239078 0.00022
NM_004456.5(EZH2):c.1506-13T>C rs778651288 0.00015
NM_004456.5(EZH2):c.1884C>G (p.Gly628=) rs61732846 0.00012
NM_004456.5(EZH2):c.1416T>C (p.Tyr472=) rs369851191 0.00008
NM_004456.5(EZH2):c.1719C>A (p.Thr573=) rs186989444 0.00006
NM_004456.5(EZH2):c.972T>G (p.Pro324=) rs574201179 0.00006
NM_004456.5(EZH2):c.232C>T (p.Arg78Cys) rs141583753 0.00003
NM_004456.5(EZH2):c.1459G>A (p.Ala487Thr) rs201135441 0.00002
NM_004456.5(EZH2):c.545A>G (p.Asn182Ser) rs746465165 0.00001
NM_004456.5(EZH2):c.557A>G (p.Asp186Gly) rs1346782884 0.00001
NM_004456.5(EZH2):c.*21del rs3217095
NM_004456.5(EZH2):c.118-4del rs3214332
NM_004456.5(EZH2):c.118-4dup
NM_004456.5(EZH2):c.118-5_118-4del rs3214332
NM_004456.5(EZH2):c.1505+20C>G rs79268614
NM_004456.5(EZH2):c.1506-17del
NM_004456.5(EZH2):c.1890G>A (p.Gly630=)
NM_004456.5(EZH2):c.1948-3del
NM_004456.5(EZH2):c.2030-20_2030-19dup
NM_004456.5(EZH2):c.233G>A (p.Arg78His)
NM_004456.5(EZH2):c.247-15dup rs557474218
NM_004456.5(EZH2):c.364-14dup rs750852762
NM_004456.5(EZH2):c.364-9_364-8del
NM_004456.5(EZH2):c.559G>A (p.Asp187Asn) rs1322202663
NM_004456.5(EZH2):c.563A>C (p.Asp188Ala)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.