List of variants studied for Kabuki syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.14643+12G>A	rs186670730	0.00042
NM_001291415.2(KDM6A):c.1677A>C (p.Gln559His)	rs763587293	0.00003
NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu)	rs776242478	0.00001
NM_003482.4(KMT2D):c.10653_10654insT (p.Ala3552fs)	rs1943097701
NM_003482.4(KMT2D):c.14002A>T (p.Thr4668Ser)	rs946513897
NM_003482.4(KMT2D):c.14152G>A (p.Glu4718Lys)	rs1942759475
NM_003482.4(KMT2D):c.14575C>T (p.Gln4859Ter)	rs1942683224
NM_003482.4(KMT2D):c.1912C>G (p.Pro638Ala)	rs372919446
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu)	rs201623566
NM_003482.4(KMT2D):c.4590G>A (p.Met1530Ile)	rs781202455
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs)	rs886043506
NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser)	rs1943505364
NM_003482.4(KMT2D):c.8430dup (p.Gln2811fs)	rs1943354738
NM_003482.4(KMT2D):c.858dup (p.Lys287Ter)	rs1592159924

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