List of variants reported for Kabuki syndrome 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.7610C>T (p.Thr2537Ile)	rs371489510	0.00004
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val)	rs1943073751	0.00001
NM_003482.4(KMT2D):c.11537G>C (p.Gly3846Ala)	rs1565777980
NM_003482.4(KMT2D):c.12700_12701del (p.Gln4235fs)	rs1942942020
NM_003482.4(KMT2D):c.14075+1G>A	rs1057516039
NM_003482.4(KMT2D):c.15832G>A (p.Ala5278Thr)
NM_003482.4(KMT2D):c.1753C>T (p.Pro585Ser)	rs1938074018
NM_003482.4(KMT2D):c.1817C>G (p.Ser606Cys)
NM_003482.4(KMT2D):c.1940C>T (p.Pro647Leu)	rs200088180
NM_003482.4(KMT2D):c.2399A>G (p.Gln800Arg)	rs2120667270
NM_003482.4(KMT2D):c.3064C>A (p.Pro1022Thr)
NM_003482.4(KMT2D):c.3220G>T (p.Glu1074Ter)	rs2120649411
NM_003482.4(KMT2D):c.3919A>G (p.Ser1307Gly)
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs)	rs398123744
NM_003482.4(KMT2D):c.4995del (p.Lys1665fs)
NM_003482.4(KMT2D):c.8486T>C (p.Met2829Thr)	rs2120505152

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