ClinVar Miner

List of variants in gene FBN2 studied for Global developmental delay; Short stature; Single transverse palmar crease; Facial asymmetry; Strabismus; Decreased body weight; Ventricular septal defect

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala)

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