List of variants reported as benign for blepharophimosis-impaired intellectual development syndrome

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003070.5(SMARCA2):c.4360-79A>G	rs2281786	0.68018
NM_003070.5(SMARCA2):c.4253+40G>C	rs3793511	0.45181
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu)	rs2296212	0.17040
NM_003070.5(SMARCA2):c.1347+16_1347+17insT	rs150124430	0.12134
NM_003070.5(SMARCA2):c.3079-25T>A	rs10738570
NM_003070.5(SMARCA2):c.4199+46C>T	rs2274095
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del)	rs113070757

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