ClinVar Miner

List of variants in gene FBN1 studied for Inborn genetic diseases

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.1238_1239insAG (p.Pro414fs)	rs2043800325
NM_000138.5(FBN1):c.659C>T (p.Pro220Leu)	rs1555401681
NM_000138.5(FBN1):c.7006G>T (p.Glu2336Ter)	rs1199524458

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