ClinVar Miner

List of variants in gene FBN2 reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_001999.4(FBN2):c.6292+12C>A rs10042349 0.04495
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484 0.00042
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564 0.00002
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=) rs941219425 0.00001
NM_001999.4(FBN2):c.1826C>G (p.Thr609Ser) rs2126958666
NM_001999.4(FBN2):c.4472-12del rs758812755
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118

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