List of variants reported as likely pathogenic for Kabuki syndrome 1 by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.11800C>T (p.Gln3934Ter)	rs1555188469
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter)	rs1555188155
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs)	rs587783689
NM_003482.4(KMT2D):c.14515+1G>T	rs1555186232
NM_003482.4(KMT2D):c.15920_15921insT (p.Leu5308fs)	rs1555185301
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs)	rs886043506

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