ClinVar Miner

List of variants studied for Marfan syndrome by Institute of Human Genetics, Cologne University

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser) rs112566465 0.00001
NM_000138.5(FBN1):c.1589-1217G>T
NM_000138.5(FBN1):c.1883G>T (p.Cys628Phe) rs1555399825
NM_000138.5(FBN1):c.3209-7T>A rs1459153455
NM_000138.5(FBN1):c.3508del (p.Arg1170fs) rs2141293265
NM_000138.5(FBN1):c.4111A>G (p.Thr1371Ala)
NM_000138.5(FBN1):c.4319del (p.Asp1440fs) rs1597552388
NM_000138.5(FBN1):c.4489T>A (p.Cys1497Ser) rs1555397213
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe) rs1597531796
NM_000138.5(FBN1):c.6067del (p.Ile2023fs) rs1597529841
NM_000138.5(FBN1):c.6070dup (p.Cys2024fs) rs1597529829
NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg) rs794728246
NM_000138.5(FBN1):c.7286G>A (p.Cys2429Tyr) rs2141226916
NM_000138.5(FBN1):c.7735del (p.His2579fs) rs1566891454

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