List of variants reported as uncertain significance for Kabuki syndrome by Illumina Laboratory Services, Illumina

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.*1043del	rs886049464
NM_003482.4(KMT2D):c.*1982del	rs879897260
NM_003482.4(KMT2D):c.*296del	rs745739172
NM_003482.4(KMT2D):c.11162TGCAGC[3] (p.3721LQ[3])	rs771711980
NM_003482.4(KMT2D):c.11723AGCAAC[1] (p.Gln3910_Gln3911del)	rs398123709
NM_003482.4(KMT2D):c.11850GCA[1] (p.Gln3954del)	rs886049475
NM_003482.4(KMT2D):c.5251AAG[2] (p.Lys1753del)	rs886049482
NM_003482.4(KMT2D):c.8047-7dup	rs200754433

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