List of variants reported as uncertain significance for Kabuki syndrome 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu)	rs776242478	0.00001
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.3392C>T (p.Pro1131Leu)	rs201623566
NM_003482.4(KMT2D):c.4590G>A (p.Met1530Ile)	rs781202455

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