ClinVar Miner

List of variants in gene COL11A1 reported as likely pathogenic for Hypertelorism; Telecanthus; Megalocornea; Abnormal facial shape; Myopia; Short nose; Hypoplasia of the maxilla; Cleft palate

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)	rs1553200431

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