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:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327 0.00041
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608 0.00007
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535 0.00006
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00006
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser) rs772994944 0.00004
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268 0.00004
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn) rs370650204 0.00003
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln) rs370804151 0.00003
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120 0.00003
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.5815G>A (p.Glu1939Lys) rs779671043 0.00002
NM_001999.4(FBN2):c.6881-5T>G rs772186151 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln) rs755437836 0.00002
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367 0.00001
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp) rs1437992406 0.00001
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser) rs143054385 0.00001
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979 0.00001
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu) rs755134019 0.00001
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val) rs863223546 0.00001
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu) rs776761421 0.00001
NM_001999.4(FBN2):c.827-19A>G rs199559284 0.00001
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly) rs768293070 0.00001
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg) rs759733025
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln) rs747084358
NM_001999.4(FBN2):c.3236C>T (p.Ala1079Val) rs1561781258
NM_001999.4(FBN2):c.4222+5G>C rs1554122550
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.4(FBN2):c.6173A>G (p.Asn2058Ser)
NM_001999.4(FBN2):c.6868A>C (p.Lys2290Gln) rs2126817406
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.879C>G (p.Ile293Met) rs1180679857

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