ClinVar Miner

List of variants in gene SMARCC2 reported as benign for Coffin-Siris syndrome 8

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001330288.2(SMARCC2):c.708+46A>C	rs773644	0.94014
NM_001330288.2(SMARCC2):c.2353A>T (p.Ser785Cys)	rs111975931	0.00013

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