ClinVar Miner

List of variants studied for Hypertelorism; Congenital cleft nose; Low-set ears; Tessier cleft; Facial asymmetry; Upper eyelid coloboma; Limbal dermoid; Pericallosal lipoma; Skin tags; Abnormal frontal bone morphology by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)	rs794727100

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