ClinVar Miner

List of variants studied for Coffin-Siris syndrome 8 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001330288.2(SMARCC2):c.3575C>T (p.Pro1192Leu) rs201954161 0.00023
NM_001330288.2(SMARCC2):c.2353A>T (p.Ser785Cys) rs111975931 0.00013
NM_001330288.2(SMARCC2):c.8T>C (p.Val3Ala) rs141878487 0.00013
NM_001330288.2(SMARCC2):c.3488C>A (p.Pro1163Gln)

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