List of variants in gene FBN1 studied for bone development disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.794C>T (p.Thr265Ile)	rs762310407	0.00001
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)	rs1131691804
NM_000138.5:c.(?_1317)_(1837+1_1838-1)del

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