ClinVar Miner

List of variants reported as likely benign for Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=) rs532737688 0.00009
NM_000138.5(FBN1):c.346+16C>T rs369090026 0.00005
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=) rs750331217 0.00002
NM_000138.5(FBN1):c.8227-10G>A rs765093559 0.00002
NM_000138.5(FBN1):c.164+12G>A rs571164659 0.00001
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=) rs397515813 0.00001
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=) rs140629 0.00001
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=) rs373887214 0.00001
NM_000138.5(FBN1):c.639C>T (p.Val213=) rs543984363 0.00001
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=) rs1597545860
NM_000138.5(FBN1):c.5066-12C>T rs531105331
NM_000138.5(FBN1):c.7236T>C (p.Val2412=) rs1306021418

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.