ClinVar Miner

List of variants reported as pathogenic for Duane retraction syndrome by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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COL25A1, 12.4-KB DEL
NM_001822.7(CHN1):c.378T>G (p.Ile126Met) rs121912793
NM_001822.7(CHN1):c.422C>T (p.Pro141Leu) rs387906599
NM_001822.7(CHN1):c.427T>C (p.Tyr143His) rs121912794
NM_001822.7(CHN1):c.60A>T (p.Leu20Phe) rs121912792
NM_001822.7(CHN1):c.668C>T (p.Ala223Val) rs121912795
NM_001822.7(CHN1):c.682G>A (p.Gly228Ser) rs121912796
NM_001822.7(CHN1):c.754C>T (p.Pro252Ser) rs387906600
NM_001822.7(CHN1):c.755C>A (p.Pro252Gln) rs121912797
NM_001822.7(CHN1):c.937G>A (p.Glu313Lys) rs121912798
NM_005461.5(MAFB):c.803del (p.Asn268fs) rs879255275
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) rs780209390
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) rs886037741

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