ClinVar Miner

List of variants in gene FBN2 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_001999.4(FBN2):c.1431G>A (p.Gly477=) rs759633050
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.1604-5C>T rs530806742
NM_001999.4(FBN2):c.195G>A (p.Glu65=) rs750055830
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398
NM_001999.4(FBN2):c.209T>C (p.Val70Ala) rs144149249
NM_001999.4(FBN2):c.2249-19A>G rs193091226
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2428+9T>C
NM_001999.4(FBN2):c.255-18C>A rs200300875
NM_001999.4(FBN2):c.2554+18C>T
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=) rs775405425
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.4(FBN2):c.4472-12del
NM_001999.4(FBN2):c.4472-18T>A
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=) rs780191346
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=) rs147452231
NM_001999.4(FBN2):c.5353+10C>T rs113589974
NM_001999.4(FBN2):c.5675-13_5675-12insG rs1581202879
NM_001999.4(FBN2):c.573C>T (p.Ile191=) rs370698125
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340
NM_001999.4(FBN2):c.7012+7G>A rs199735209
NM_001999.4(FBN2):c.7471+6G>A rs200998513
NM_001999.4(FBN2):c.7594+10G>A
NM_001999.4(FBN2):c.7A>C (p.Arg3=) rs1466844222

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