List of variants studied for Kleefstra syndrome 1 by Baylor Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu)	rs146814571	0.00002
NM_024757.5(EHMT1):c.1061_1062del (p.Glu354fs)	rs1064796085
NM_024757.5(EHMT1):c.110G>A (p.Gly37Asp)	rs1300327079
NM_024757.5(EHMT1):c.1679A>G (p.Tyr560Cys)	rs1950867310
NM_024757.5(EHMT1):c.2224del (p.Leu742fs)	rs1564744631
NM_024757.5(EHMT1):c.2335G>A (p.Ala779Thr)	rs1951621210
NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val)	rs1554888939
NM_024757.5(EHMT1):c.3000del (p.Asp1001fs)	rs1954627505
NM_024757.5(EHMT1):c.3853G>C (p.Gly1285Arg)
NM_024757.5(EHMT1):c.391del (p.Ala131fs)	rs797045043
NM_024757.5(EHMT1):c.756dup (p.Phe253fs)	rs1554852664
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter)	rs137852714
NM_170606.3(KMT2C):c.8543del (p.Asn2848fs)	rs2093235396

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