ClinVar Miner

List of variants reported as pathogenic for Coffin-Siris syndrome 1 by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001374828.1(ARID1B):c.2400del (p.Ser800fs)	rs1583280152
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)	rs1554236040
NM_001374828.1(ARID1B):c.6236C>G (p.Ser2079Ter)	rs2128395778

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