ClinVar Miner

List of variants in gene FGFR2 reported as likely pathogenic for Acrocephalosyndactyly type I; Cutis Gyrata syndrome of Beare and Stevenson; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Scaphocephaly, maxillary retrusion, and mental retardation; Neoplasm of stomach; Bent bone dysplasia syndrome

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Total variants: 1
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HGVS dbSNP
NM_022970.3(FGFR2):c.1087+1292G>A rs1057519044

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