ClinVar Miner

List of variants studied for Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome

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Total variants: 15
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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 0.00084
NM_003070.5(SMARCA2):c.4595-7G>C rs199897032 0.00033
NM_003070.5(SMARCA2):c.246C>T (p.Asp82=) rs181403075 0.00029
NM_003070.5(SMARCA2):c.31C>T (p.Pro11Ser) rs145516397 0.00019
NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro) rs940521825 0.00008
NM_003070.5(SMARCA2):c.887A>C (p.Gln296Pro) rs753868549 0.00006
NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met) rs146164750 0.00003
NC_000023.11:g.1920922_1920924del
NM_003070.5(SMARCA2):c.221A>G (p.His74Arg) rs2537193288
NM_003070.5(SMARCA2):c.3458A>T (p.Asp1153Val) rs2537404195
NM_003070.5(SMARCA2):c.3887G>A (p.Cys1296Tyr) rs909061146
NM_003070.5(SMARCA2):c.4295_4296insCAAGGAAAGAATTAC (p.Ser1432_Arg1433insLysGluArgIleThr) rs2534749358
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln) rs113070757

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