ClinVar Miner

List of variants in gene FGFR2 reported as likely pathogenic for Hypertelorism; High palate; Low-set ears; Cranial asymmetry; Abnormality of the pinna; Downslanted palpebral fissures; Flat occiput; Narrow forehead; Short neck; Hydrocephalus; Brachyturricephaly; Wide anterior fontanel; Facial asymmetry; High forehead; Choanal stenosis; Shallow orbits; Abnormality of the posterior cranial fossa; Deviated nasal septum; Dilation of lateral ventricles; Hypointensity of cerebral white matter on MRI; Abnormality of the zygomatic bone; Mild fetal ventriculomegaly

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Total variants: 1
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HGVS dbSNP
NM_022970.3(FGFR2):c.1087+1319C>G rs121918494

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