ClinVar Miner

List of variants reported as pathogenic for Marfan syndrome by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1659del (p.His554fs) rs1566915277
NM_000138.5(FBN1):c.2269del (p.Asp757fs) rs1064793636
NM_000138.5(FBN1):c.3081del (p.Asp1028fs) rs1555398774
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp) rs775417975
NM_000138.5(FBN1):c.4088-2A>C rs1555397671
NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr) rs1555394196
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs) rs2042873946

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