List of variants studied for Kleefstra syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser)	rs34704821	0.00856
NM_024757.5(EHMT1):c.1249-9G>T	rs73669157	0.00552
NM_024757.5(EHMT1):c.204T>C (p.Asn68=)	rs3812496	0.00043
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=)	rs367662089	0.00014
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp)	rs368995503	0.00013
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser)	rs143891279	0.00010
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu)	rs376787713	0.00006
NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile)	rs797045554	0.00003
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr)	rs199780189	0.00003
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala)	rs773281152	0.00001
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu)	rs373640528	0.00001
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val)	rs375391530	0.00001
NM_024757.5(EHMT1):c.3838G>C (p.Glu1280Gln)	rs1215972773	0.00001
NM_024757.5(EHMT1):c.510G>T (p.Gln170His)	rs1308431693	0.00001
NM_024757.5(EHMT1):c.3541-13TC[3]	rs10667884

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