ClinVar Miner

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

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Gene type:
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Total variants: 25
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HGVS dbSNP
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421
NM_001999.4(FBN2):c.3236C>T (p.Ala1079Val) rs1561781258
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261
NM_001999.4(FBN2):c.4222+5G>C rs1554122550
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608
NM_001999.4(FBN2):c.5800+5G>A rs375487064
NM_001999.4(FBN2):c.5815G>A (p.Glu1939Lys)
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535
NM_001999.4(FBN2):c.5917+9T>G rs371439173
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843
NM_001999.4(FBN2):c.6881-5T>G rs772186151
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln) rs755437836
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.827-19A>G rs199559284
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)
NM_001999.4(FBN2):c.879C>G (p.Ile293Met) rs1180679857

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