ClinVar Miner

List of variants studied for Hypertelorism; Telecanthus; Megalocornea; Abnormal facial shape; Myopia (disease); Short nose; Hypoplasia of the maxilla; Cleft palate

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Total variants: 1
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NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) rs1553200431

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