List of variants reported as pathogenic for Kabuki syndrome by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001291415.2(KDM6A):c.3172C>T (p.Gln1058Ter)	rs1556341546
NM_001291415.2(KDM6A):c.3198del (p.Thr1067fs)	rs1602928108
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter)	rs912069418
NM_003482.4(KMT2D):c.1336del (p.Glu446fs)
NM_003482.4(KMT2D):c.14753del (p.Pro4918fs)	rs1592106879
NM_003482.4(KMT2D):c.16522-5_16522-2del	rs2137703007
NM_003482.4(KMT2D):c.2871dup (p.Glu958fs)
NM_003482.4(KMT2D):c.3968dup (p.Gly1323_Arg1324insTer)	rs1592150075
NM_003482.4(KMT2D):c.6010C>T (p.Gln2004Ter)	rs1592139221

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