List of variants reported as pathogenic for Kabuki syndrome 1 by Bodamer Research Lab, Boston Children's Hospital

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.10394dup (p.Pro3466fs)	rs1284500089
NM_003482.4(KMT2D):c.12395del (p.His4132fs)	rs2498357112
NM_003482.4(KMT2D):c.13090C>T (p.Gln4364Ter)	rs1399037623
NM_003482.4(KMT2D):c.13999_13999+12del	rs2498342449
NM_003482.4(KMT2D):c.14216_14217del (p.Pro4739fs)	rs2498337036
NM_003482.4(KMT2D):c.14251+1G>C	rs2120390748
NM_003482.4(KMT2D):c.14868del (p.Glu4957fs)	rs2499039220
NM_003482.4(KMT2D):c.15194G>C (p.Trp5065Ser)	rs2120362721
NM_003482.4(KMT2D):c.2007dup (p.Pro670fs)	rs2498456323
NM_003482.4(KMT2D):c.349C>T (p.Gln117Ter)	rs2120711101
NM_003482.4(KMT2D):c.4379dup (p.Leu1461fs)	rs1240601136
NM_003482.4(KMT2D):c.4870del (p.Ala1624fs)	rs2498421685
NM_003482.4(KMT2D):c.5783-1G>A	rs2120558174
NM_003482.4(KMT2D):c.6183+3G>T	rs2120551363
NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs)	rs35584294
NM_003482.4(KMT2D):c.839+1del	rs2498465255
NM_003482.4(KMT2D):c.9787_9791dup (p.Gln3265fs)	rs1943282614

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