ClinVar Miner

Variants in gene FBN2 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 85
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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.203C>T (p.Ala68Val) rs62390671 0.03303
NM_001999.4(FBN2):c.6637+39A>G rs17608435 0.02889
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_001999.4(FBN2):c.2555-184T>G rs62375019 0.02297
NM_001999.4(FBN2):c.2813-37C>A rs28763947 0.02197
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
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.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
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.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_001999.4(FBN2):c.-17C>G rs372089451 0.00199
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923 0.00175
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
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.5675-12_5675-11insG rs150372632 0.00133
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906 0.00115
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531 0.00102
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039 0.00102
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00100
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
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.4246A>G (p.Thr1416Ala) rs200837433 0.00040
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.339G>A (p.Pro113=) rs144540627 0.00032
NM_001999.4(FBN2):c.7012+6C>T rs749376421 0.00032
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977 0.00024
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_001999.4(FBN2):c.7013-7T>A rs191729449 0.00022
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843 0.00018
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=) rs375141964 0.00015
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931 0.00009
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757 0.00008
NM_001999.4(FBN2):c.6063C>T (p.Val2021=) rs149380208 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_001999.4(FBN2):c.2249-12T>C rs776314725 0.00003
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=) rs771507975 0.00003
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr) rs750949734 0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398 0.00001
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=) rs886038504 0.00001
NM_001999.4(FBN2):c.522T>C (p.Tyr174=) rs573915338 0.00001
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629 0.00001
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala) rs191065419
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642

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