ClinVar Miner

List of variants in gene FBN2 reported as benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_001999.4(FBN2):c.6880+17G>A rs2042327 0.45423
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_001999.4(FBN2):c.6511+15A>G rs56131649 0.14023
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209 0.11103
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288 0.09446
NM_001999.4(FBN2):c.4718-13T>C rs10044959 0.07765
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_001999.4(FBN2):c.7013-5T>C rs28763927 0.06995
NM_001999.4(FBN2):c.5675-9del rs112666443 0.05000
NM_001999.4(FBN2):c.6292+12C>A rs10042349 0.04495
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505 0.02500
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
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.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.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00434
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_001999.4(FBN2):c.6512-17G>C rs28763932 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.7824C>T (p.Thr2608=) rs28763922 0.00339
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
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.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.255-18C>A rs200300875 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030 0.00096
NM_001999.4(FBN2):c.3974-19T>C rs112950479 0.00083
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.436+16G>A rs372098570 0.00068
NM_001999.4(FBN2):c.7841-16G>T rs201231807 0.00063
NM_001999.4(FBN2):c.4472-12T>A rs551686237 0.00054
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_001999.4(FBN2):c.5675-8dup rs767398234 0.00044
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
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.5670T>C (p.Cys1890=) rs74811638 0.00022
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=) rs375141964 0.00015
NM_001999.4(FBN2):c.7841-17C>T rs371643668 0.00014
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_001999.4(FBN2):c.7961-10G>A rs752746367 0.00002
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>T rs140017238
NM_001999.4(FBN2):c.629-26TCTT[4] rs778383061
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368

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