List of variants reported as pathogenic for Kleefstra syndrome 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_170606.3(KMT2C):c.10724_10725dup (p.Ile3576fs)	rs2487689029
NM_170606.3(KMT2C):c.4123del (p.Thr1375fs)
NM_170606.3(KMT2C):c.5419C>T (p.Gln1807Ter)	rs2129121010
NM_170606.3(KMT2C):c.7825C>T (p.Arg2609Ter)	rs2129115127

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