List of variants reported as uncertain significance for Kabuki syndrome 1 by New York Genome Center

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn)	rs587778463	0.00009
NM_003482.4(KMT2D):c.1421T>C (p.Leu474Ser)	rs544407449	0.00005
NM_003482.4(KMT2D):c.2798-7C>T	rs1161537279	0.00005
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr)	rs767232021	0.00004
NM_003482.4(KMT2D):c.14519G>A (p.Gly4840Glu)	rs1054025123	0.00004
NM_003482.4(KMT2D):c.6628C>T (p.Pro2210Ser)	rs1324674144	0.00004
NM_003482.4(KMT2D):c.8366+6G>T	rs749728191	0.00003
NM_003482.4(KMT2D):c.12605A>C (p.Gln4202Pro)	rs1276517318	0.00001
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe)	rs750774484	0.00001
NM_003482.4(KMT2D):c.13346T>A (p.Leu4449His)	rs757710580	0.00001
NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe)	rs771209224	0.00001
NM_003482.4(KMT2D):c.15707A>G (p.Asn5236Ser)	rs1458393564	0.00001
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His)	rs745599611	0.00001
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser)	rs976882824	0.00001
NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His)	rs1266718915	0.00001
NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn)	rs779260688	0.00001
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg)	rs587778458	0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr)	rs587783724	0.00001
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)	rs758685548	0.00001
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val)	rs1943073751
NM_003482.4(KMT2D):c.12673C>G (p.Leu4225Val)	rs949941431
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala)	rs772169265
NM_003482.4(KMT2D):c.3734C>G (p.Ser1245Cys)	rs2120641688
NM_003482.4(KMT2D):c.3898A>G (p.Ile1300Val)	rs2120638267
NM_003482.4(KMT2D):c.4163G>A (p.Arg1388Gln)	rs202217665
NM_003482.4(KMT2D):c.7484C>T (p.Pro2495Leu)	rs2120525921
NM_003482.4(KMT2D):c.7777C>A (p.Pro2593Thr)	rs2120520690
NM_003482.4(KMT2D):c.8102G>A (p.Arg2701Gln)	rs1943386777
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser)	rs1291730464

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