ClinVar Miner

List of variants in gene MAFB reported as pathogenic for Duane retraction syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_005461.4(MAFB):c.(?_391)_*(390_?)del
NM_005461.5(MAFB):c.440del (p.Gly147fs) rs879255276
NM_005461.5(MAFB):c.644del (p.Gln215fs) rs879255277
NM_005461.5(MAFB):c.803del (p.Asn268fs) rs879255275

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