ClinVar Miner

List of variants in gene FBN1 reported as benign for Weill-Marchesani syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
NM_000138.4(FBN1):c.*1084T>C rs3803350
NM_000138.4(FBN1):c.*1368A>G rs77212138
NM_000138.4(FBN1):c.*1562G>T rs78442438
NM_000138.4(FBN1):c.*1575T>G rs4775760
NM_000138.4(FBN1):c.*1959G>A rs12050562
NM_000138.4(FBN1):c.*2040T>C rs73390272
NM_000138.4(FBN1):c.*2158G>A rs11070641
NM_000138.4(FBN1):c.*314C>T rs1042078
NM_000138.4(FBN1):c.*730G>T rs13598
NM_000138.4(FBN1):c.-388C>T rs3825792
NM_000138.4(FBN1):c.156G>T (p.Ala52=) rs25398
NM_000138.4(FBN1):c.1875T>C (p.Asn625=) rs25458
NM_000138.4(FBN1):c.3082+6A>G rs79321504
NM_000138.4(FBN1):c.3464-5G>A rs11853943
NM_000138.4(FBN1):c.5066-14dupT rs3833018
NM_000138.4(FBN1):c.6855T>C (p.Asp2285=) rs363836
NM_000138.4(FBN1):c.6888G>A (p.Gln2296=) rs363830
NM_000138.4(FBN1):c.7819+8A>C rs363838

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.