ClinVar Miner

List of variants reported as likely pathogenic for Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Neoplasm of stomach; Bent bone dysplasia syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)	rs1057519044

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