ClinVar Miner

List of variants in gene FBN1 reported as uncertain significance by Blueprint Genetics

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399 0.00002
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys) rs770257902 0.00002
NM_000138.5(FBN1):c.2127A>C (p.Ala709=) rs886038990 0.00001
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr) rs755375255 0.00001
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly) rs1597652333
NM_000138.5(FBN1):c.1390C>G (p.Arg464Gly) rs587782943
NM_000138.5(FBN1):c.1836A>T (p.Lys612Asn) rs1597577053
NM_000138.5(FBN1):c.1893T>C (p.Thr631=) rs1597574997
NM_000138.5(FBN1):c.2209G>A (p.Gly737Arg) rs1597570356
NM_000138.5(FBN1):c.2539+10T>A rs878853679
NM_000138.5(FBN1):c.4010C>T (p.Ala1337Val) rs866495806
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys) rs869025407
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys) rs730880102
NM_000138.5(FBN1):c.5806A>G (p.Ser1936Gly) rs869025409
NM_000138.5(FBN1):c.6038A>T (p.Asp2013Val) rs869025410
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met) rs876660976
NM_000138.5(FBN1):c.7050C>G (p.Ile2350Met) rs772287755
NM_000138.5(FBN1):c.7091G>A (p.Cys2364Tyr) rs1597517925
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg) rs1060501030

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