ClinVar Miner

List of variants reported as benign for Nicolaides-Baraitser syndrome by Genome-Nilou Lab

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Total variants: 5
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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.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

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