ClinVar Miner

List of variants in gene FBN2 reported as uncertain significance for not specified

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226 0.00178
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327 0.00041
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00040
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) rs148014419 0.00033
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460 0.00014
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp) rs375093230 0.00010
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.3690A>G (p.Gly1230=) rs774807410 0.00005
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=) rs532983875 0.00004
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn) rs537477883 0.00002
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His) rs368384428 0.00002
NM_001999.4(FBN2):c.6881-5T>G rs772186151 0.00002
NM_001999.4(FBN2):c.1938A>G (p.Gly646=) rs1057518608 0.00001
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979 0.00001
NM_001999.4(FBN2):c.827-19A>G rs199559284 0.00001
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His) rs1262933234 0.00001
NM_001999.4(FBN2):c.1105G>T (p.Gly369Cys)
NM_001999.4(FBN2):c.1763dup (p.Asn588fs) rs863223595
NM_001999.4(FBN2):c.1789A>C (p.Ser597Arg) rs1033872078
NM_001999.4(FBN2):c.2675-20C>T
NM_001999.4(FBN2):c.3815A>G (p.Tyr1272Cys)
NM_001999.4(FBN2):c.4098_4099delinsCA (p.Asp1367Asn)
NM_001999.4(FBN2):c.4099+12G>A
NM_001999.4(FBN2):c.4222+5G>C rs1554122550
NM_001999.4(FBN2):c.4461A>T (p.Arg1487Ser) rs797045573
NM_001999.4(FBN2):c.4472-18_4472-17delinsA rs863223596
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.6173A>G (p.Asn2058Ser)
NM_001999.4(FBN2):c.7547C>T (p.Ser2516Leu) rs797045574
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala) rs764514988
NM_001999.4(FBN2):c.809G>A (p.Arg270His) rs148971572
NM_001999.4(FBN2):c.8470G>T (p.Ala2824Ser) rs868262960

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