List of variants reported as uncertain significance for Kleefstra syndrome 1 by Baylor Genetics

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Total variants: 5

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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.110G>A (p.Gly37Asp)	rs1300327079
NM_024757.5(EHMT1):c.1679A>G (p.Tyr560Cys)	rs1950867310
NM_024757.5(EHMT1):c.2335G>A (p.Ala779Thr)	rs1951621210
NM_024757.5(EHMT1):c.3853G>C (p.Gly1285Arg)

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