ClinVar Miner

List of variants in gene combination FBN1, LOC130057019 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)	rs25397	0.00019
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)	rs201309310	0.00016

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