ClinVar Miner

List of variants in gene combination FBN1, LOC113939944 reported as uncertain significance for Marfan syndrome

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser) rs363855 0.00004
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys) rs752010116 0.00001
NM_000138.5(FBN1):c.1031G>A (p.Arg344His) rs200388305 0.00001
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val) rs762598979 0.00001
NM_000138.5(FBN1):c.1146C>T (p.Thr382=) rs889875676 0.00001
NM_000138.5(FBN1):c.995G>A (p.Arg332His) rs748929044 0.00001
NM_000138.5(FBN1):c.1015G>A (p.Ala339Thr) rs2141336224
NM_000138.5(FBN1):c.1015G>T (p.Ala339Ser) rs2141336224
NM_000138.5(FBN1):c.1048C>T (p.Pro350Ser)
NM_000138.5(FBN1):c.1057A>T (p.Ile353Leu) rs750653834
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr) rs1555400606
NM_000138.5(FBN1):c.1082A>T (p.Asp361Val) rs2043845991
NM_000138.5(FBN1):c.1099T>C (p.Ser367Pro) rs2043845566
NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe)
NM_000138.5(FBN1):c.1106G>C (p.Gly369Ala)
NM_000138.5(FBN1):c.1118C>A (p.Ala373Asp)
NM_000138.5(FBN1):c.1125G>T (p.Glu375Asp)
NM_000138.5(FBN1):c.1128_1147+2dup
NM_000138.5(FBN1):c.1133C>G (p.Pro378Arg) rs1274000764
NM_000138.5(FBN1):c.1144A>G (p.Thr382Ala)
NM_000138.5(FBN1):c.1145C>T (p.Thr382Ile)
NM_000138.5(FBN1):c.1147+3A>C rs1597583956
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.5(FBN1):c.991G>A (p.Val331Ile)
NM_000138.5(FBN1):c.992T>A (p.Val331Asp)
NM_000138.5(FBN1):c.995G>T (p.Arg332Leu) rs748929044

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.