List of variants reported as uncertain significance for Kabuki syndrome 1 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu)	rs886043233
NM_003482.4(KMT2D):c.14110A>T (p.Ser4704Cys)	rs1592110663
NM_003482.4(KMT2D):c.15596_15597delinsGC (p.Phe5199Cys)
NM_003482.4(KMT2D):c.15989C>G (p.Pro5330Arg)	rs1942485576

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