ClinVar Miner

List of variants studied for Marfan syndrome by Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000015.10:g.(48494255_48495122)_(48499039_48503786)del
NM_000138.5(FBN1):c.1378T>A (p.Cys460Ser) rs1597581005
NM_000138.5(FBN1):c.1634G>C (p.Arg545Pro) rs193922179
NM_000138.5(FBN1):c.1646_1649delinsGT (p.Thr549fs) rs1597577975
NM_000138.5(FBN1):c.176del (p.Cys59fs) rs1597633219
NM_000138.5(FBN1):c.1782del (p.Phe594fs) rs1597577114
NM_000138.5(FBN1):c.1881_1883inv (p.Cys628Asn)
NM_000138.5(FBN1):c.1888A>C (p.Asn630His) rs1555399821
NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter) rs1597633183
NM_000138.5(FBN1):c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly) rs1597574308
NM_000138.5(FBN1):c.202T>C (p.Cys68Arg) rs113604459
NM_000138.5(FBN1):c.2053T>C (p.Cys685Arg) rs1597574236
NM_000138.5(FBN1):c.2113+1G>C rs1566913670
NM_000138.5(FBN1):c.2419+2T>G rs1597569536
NM_000138.5(FBN1):c.2539+2T>G rs1597569159
NM_000138.5(FBN1):c.2561G>A (p.Trp854Ter) rs1597568968
NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys) rs794728194
NM_000138.5(FBN1):c.2886C>A (p.Tyr962Ter) rs772108557
NM_000138.5(FBN1):c.298T>C (p.Cys100Arg) rs1597631662
NM_000138.5(FBN1):c.3065G>A (p.Gly1022Glu) rs1597565278
NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter) rs1597564359
NM_000138.5(FBN1):c.3372_3376del (p.Cys1124fs) rs1597563280
NM_000138.5(FBN1):c.3398_3399del (p.Glu1133fs) rs1597563234
NM_000138.5(FBN1):c.376G>T (p.Gly126Ter) rs1597625734
NM_000138.5(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.5(FBN1):c.5057del (p.Asn1686fs) rs1597545836
NM_000138.5(FBN1):c.5093del (p.Asn1698fs) rs1597545309
NM_000138.5(FBN1):c.510del (p.Thr169_Tyr170insTer) rs1597623670
NM_000138.5(FBN1):c.5416T>G (p.Cys1806Gly) rs1555396419
NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr) rs1597537815
NM_000138.5(FBN1):c.5678A>G (p.Asn1893Ser) rs1597533707
NM_000138.5(FBN1):c.6118T>C (p.Cys2040Arg) rs1597529748
NM_000138.5(FBN1):c.634A>C (p.Thr212Pro) rs1597593736
NM_000138.5(FBN1):c.6380-1G>T rs1597526073
NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly) rs1566896114
NM_000138.5(FBN1):c.6496+1del rs1597525871
NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter) rs1597522553
NM_000138.5(FBN1):c.6701dup (p.Tyr2236fs) rs1597522390
NM_000138.5(FBN1):c.6740-1G>T rs1555394781
NM_000138.5(FBN1):c.6804del (p.Ile2269fs) rs1597520683
NM_000138.5(FBN1):c.6828T>G (p.Cys2276Trp) rs1597520625
NM_000138.5(FBN1):c.6872-1G>T rs1597518951
NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp) rs1480832655
NM_000138.5(FBN1):c.7099G>T (p.Gly2367Ter) rs368978109
NM_000138.5(FBN1):c.7559del (p.Thr2520fs) rs1597513708
NM_000138.5(FBN1):c.7951G>T (p.Glu2651Ter) rs1555393859
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly) rs1597587453

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.