List of variants studied for Kabuki syndrome 1 by Institute of Human Genetics, University of Goettingen

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.11815C>G (p.Gln3939Glu)	rs1326092141	0.00001
NM_003482.4(KMT2D):c.10810C>T (p.Gln3604Ter)	rs1060499552
NM_003482.4(KMT2D):c.11461C>T (p.Gln3821Ter)	rs2120441127
NM_003482.4(KMT2D):c.1395dup (p.Arg466fs)	rs1565820584
NM_003482.4(KMT2D):c.14826dup (p.Glu4943Ter)	rs1942639701
NM_003482.4(KMT2D):c.2515G>T (p.Glu839Ter)	rs781145102
NM_003482.4(KMT2D):c.466G>T (p.Glu156Ter)	rs1057519422
NM_003482.4(KMT2D):c.543dup (p.Ile182fs)	rs1938252967
NM_003482.4(KMT2D):c.9178G>A (p.Gly3060Arg)

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