List of variants in gene FBN1 reported as likely benign for Ectopia lentis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.2420-8T>C	rs140582	0.00163
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)	rs143007898	0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)	rs183306990	0.00030
NM_000138.5(FBN1):c.*2360C>G	rs144404153	0.00024
NM_000138.5(FBN1):c.5917+3A>G	rs202158568	0.00014
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)	rs144400069	0.00008
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)	rs397515822	0.00004
NM_000138.5(FBN1):c.*1437G>A	rs549498511	0.00001
NM_000138.5(FBN1):c.8227-3C>T	rs200822151	0.00001
NM_000138.5(FBN1):c.*1950dup	rs535798341
NM_000138.5(FBN1):c.*960del	rs527621676

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