List of variants studied for Kleefstra syndrome 1 by Mendelics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln)	rs144871446	0.00092
NM_024757.5(EHMT1):c.1292_1296del (p.Gly431fs)	rs2136218711
NM_024757.5(EHMT1):c.1553C>G (p.Pro518Arg)	rs1287556019
NM_024757.5(EHMT1):c.2018+1G>A	rs1950997931
NM_024757.5(EHMT1):c.2976del (p.Ser992fs)	rs1588854011
NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter)	rs368087892
NM_024757.5(EHMT1):c.3310G>T (p.Glu1104Ter)	rs886041093
NM_024757.5(EHMT1):c.3709C>T (p.Gln1237Ter)	rs1325669112
NM_024757.5(EHMT1):c.389_397del (p.Pro130_Leu132del)	rs1588328189
NM_024757.5(EHMT1):c.824-2A>T	rs866090137

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