ClinVar Miner

List of variants in gene COL25A1 reported as pathogenic for Duane retraction syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
COL25A1, 12.4-KB DEL
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) rs780209390
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) rs886037741

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