ClinVar Miner

List of variants in gene combination FBN1, LOC113939944 reported by ClinGen FBN1 Variant Curation Expert Panel, ClinGen

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)	rs752010116	0.00001
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr)	rs1555400606
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)	rs794728325
NM_000138.5(FBN1):c.989-1G>C	rs1555400616

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