List of variants reported as pathogenic for Kleefstra syndrome by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024757.5(EHMT1):c.1413_1425del (p.Pro473fs)	rs137852715
NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr)	rs137852726
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter)	rs121918301
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter)	rs137852714
NM_170606.3(KMT2C):c.10812_10815del (p.Lys3605fs)	rs1554477105
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter)	rs1554580083
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter)	rs587777073
NM_170606.3(KMT2C):c.5216del (p.Pro1739fs)	rs1554505381
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter)	rs779659766

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