ClinVar Miner

List of variants studied for Marfan syndrome by OMIM

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg) rs137854472 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NC_000015.9:g.48793164_49095744del
NG_008805.2:g.(135403_137120)_(206249_208942)del
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile) rs137854462
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.3037G>C (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr) rs137854481
NM_000138.5(FBN1):c.3192del (p.Glu1065fs) rs1131692050
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3220T>C (p.Cys1074Arg) rs137854465
NM_000138.5(FBN1):c.3257G>A (p.Cys1086Tyr) rs137854484
NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr) rs137854470
NM_000138.5(FBN1):c.3386G>A (p.Cys1129Tyr) rs137854482
NM_000138.5(FBN1):c.3391A>T (p.Asn1131Tyr) rs137854473
NM_000138.5(FBN1):c.3662G>A (p.Cys1221Tyr) rs137854483
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr) rs137854469
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser) rs137854458
NM_000138.5(FBN1):c.3793T>C (p.Cys1265Arg) rs137854474
NM_000138.5(FBN1):c.3965-2A>T rs387906547
NM_000138.5(FBN1):c.4087+1G>A rs387906548
NM_000138.5(FBN1):c.4253_4259del (p.Gly1418fs) rs398122934
NM_000138.5(FBN1):c.4987T>C (p.Cys1663Arg) rs137854459
NM_000138.5(FBN1):c.5788+1G>A rs1555395819
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter) rs267606797
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser) rs137854460
NM_000138.5(FBN1):c.6739+1G>C rs869025419
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7455_7821del
NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter) rs267606796
NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn) rs104893812
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813
NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp) rs104893814
NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val) rs104893817
NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu) rs104893818
NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe) rs104893807
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003242.6(TGFBR2):c.1397-2A>G rs587776770
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=) rs121918715
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro) rs28934568

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.