List of variants reported as uncertain significance for Kabuki syndrome 1 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.15332A>G (p.Asn5111Ser)	rs943690439	0.00001
NM_003482.4(KMT2D):c.11733_11756dup (p.Gln3925_Leu3926insGlnGlnLeuGlnGlnGlnGlnGln)	rs2498361184
NM_003482.4(KMT2D):c.4352G>C (p.Ser1451Thr)	rs2120610885
NM_003482.4(KMT2D):c.5812AGC[1] (p.Ser1939del)
NM_003482.4(KMT2D):c.6894C>G (p.Ser2298Arg)	rs2120536972
NM_003482.4(KMT2D):c.8183C>T (p.Ala2728Val)	rs2120511801

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