ClinVar Miner

List of variants reported as benign for Weaver syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 38
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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.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.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.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)

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