ClinVar Miner

List of variants in gene FBN2 reported by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Gene type:
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Total variants: 104
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HGVS dbSNP
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287
NM_001999.4(FBN2):c.1431G>A (p.Gly477=) rs759633050
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327
NM_001999.4(FBN2):c.1466-5C>T rs28763952
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.1604-5C>T rs530806742
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287
NM_001999.4(FBN2):c.195G>A (p.Glu65=) rs750055830
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398
NM_001999.4(FBN2):c.209T>C (p.Val70Ala) rs144149249
NM_001999.4(FBN2):c.2249-19A>G rs193091226
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2428+9T>C
NM_001999.4(FBN2):c.255-18C>A rs200300875
NM_001999.4(FBN2):c.2554+18C>T
NM_001999.4(FBN2):c.2555-184T>G rs62375019
NM_001999.4(FBN2):c.2555-7A>G rs28763949
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945
NM_001999.4(FBN2):c.3236C>T (p.Ala1079Val) rs1561781258
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=) rs775405425
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226
NM_001999.4(FBN2):c.4222+5G>C rs1554122550
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072
NM_001999.4(FBN2):c.436+16G>A rs372098570
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463
NM_001999.4(FBN2):c.4472-12del
NM_001999.4(FBN2):c.4472-18T>A
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=) rs780191346
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=) rs147452231
NM_001999.4(FBN2):c.5353+10C>T rs113589974
NM_001999.4(FBN2):c.5353+19C>T rs183524866
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.4(FBN2):c.5675-13_5675-12insG rs1581202879
NM_001999.4(FBN2):c.573C>T (p.Ile191=) rs370698125
NM_001999.4(FBN2):c.5800+5G>A rs375487064
NM_001999.4(FBN2):c.5815G>A (p.Glu1939Lys)
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535
NM_001999.4(FBN2):c.5917+9T>G rs371439173
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843
NM_001999.4(FBN2):c.629-9A>G rs56025995
NM_001999.4(FBN2):c.6511+5G>A rs200608284
NM_001999.4(FBN2):c.6512-17G>C rs28763932
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340
NM_001999.4(FBN2):c.6881-5T>G rs772186151
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.7012+7G>A rs199735209
NM_001999.4(FBN2):c.7013-5T>C rs28763927
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln) rs755437836
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.4(FBN2):c.7471+6G>A rs200998513
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120
NM_001999.4(FBN2):c.7594+10G>A
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628
NM_001999.4(FBN2):c.7841-16G>T rs201231807
NM_001999.4(FBN2):c.7A>C (p.Arg3=) rs1466844222
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101
NM_001999.4(FBN2):c.827-19A>G rs199559284
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441
NM_001999.4(FBN2):c.8364+7A>T rs185052980
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505
NM_001999.4(FBN2):c.879C>G (p.Ile293Met) rs1180679857
NM_001999.4(FBN2):c.953-8T>G rs201818403
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954

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