ClinVar Miner

List of variants reported for Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_003070.5(SMARCA2):c.4731T>C (p.Asp1577=) rs143522467 0.00088
NM_003070.5(SMARCA2):c.246C>T (p.Asp82=) rs181403075 0.00029
NM_003070.5(SMARCA2):c.4595-7G>C rs199897032 0.00029
NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro) rs940521825 0.00009
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln) rs113070757
NM_003070.5(SMARCA2):c.887A>C (p.Gln296Pro) rs753868549

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