ClinVar Miner

List of variants reported as likely pathogenic for Coffin-Siris syndrome by Laboratory of Molecular Genetics, CHU Rennes

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001374828.1(ARID1B):c.3655_3656dup (p.Pro1220fs)	rs1057519009
NM_001374828.1(ARID1B):c.5394+1G>A	rs1057518984

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