ClinVar Miner

List of variants reported as likely pathogenic for Marfan syndrome by Blueprint Genetics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys) rs587782946 0.00003
NM_000138.5(FBN1):c.1744_1745del (p.Cys582fs) rs869025420
NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg) rs869025404
NM_000138.5(FBN1):c.1A>G (p.Met1Val) rs730880097
NM_000138.5(FBN1):c.2113+2T>C rs730880105
NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg) rs869025405
NM_000138.5(FBN1):c.281G>T (p.Cys94Phe) rs730880098
NM_000138.5(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr) rs730880100
NM_000138.5(FBN1):c.320_321del (p.Ile107fs) rs730880108
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys) rs869025403
NM_000138.5(FBN1):c.3893dup (p.Asn1298fs) rs869025425
NM_000138.5(FBN1):c.4197del (p.Phe1400fs) rs869025421
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.4337-1G>T rs1555397424
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg) rs730880101
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=) rs869025408
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs) rs869025426
NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter) rs730880103
NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys) rs730880104
NM_000138.5(FBN1):c.5918-2A>G rs869025418
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg) rs869025411
NM_000138.5(FBN1):c.6739+1G>A rs869025419
NM_000138.5(FBN1):c.6739+2T>A rs730880107
NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg) rs869025412
NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg) rs869025413
NM_000138.5(FBN1):c.7109del (p.Gly2370fs) rs869025422
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs) rs869025423
NM_000138.5(FBN1):c.7259del (p.Asn2420fs) rs869025424
NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys) rs869025415
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr) rs869025416
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro) rs869025417

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