ClinVar Miner

List of variants in gene FBN2 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 106
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HGVS dbSNP
NM_001999.4(FBN2):c.1011C>T (p.Thr337=) rs781086796
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083
NM_001999.4(FBN2):c.1152G>A (p.Thr384=) rs267600336
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly) rs140464202
NM_001999.4(FBN2):c.132G>C (p.Pro44=) rs199702573
NM_001999.4(FBN2):c.1431G>A (p.Gly477=) rs759633050
NM_001999.4(FBN2):c.1466-4G>A rs371636769
NM_001999.4(FBN2):c.150T>A (p.Ala50=) rs543546489
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503
NM_001999.4(FBN2):c.1749G>A (p.Gly583=) rs75940000
NM_001999.4(FBN2):c.1836A>G (p.Gly612=) rs1399438169
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.4(FBN2):c.2283T>C (p.Gly761=) rs1235214641
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu) rs148598779
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563
NM_001999.4(FBN2):c.2684A>G (p.Lys895Arg) rs143565958
NM_001999.4(FBN2):c.27C>G (p.Leu9=) rs369714882
NM_001999.4(FBN2):c.2802G>A (p.Arg934=) rs140500093
NM_001999.4(FBN2):c.2856G>A (p.Thr952=) rs556038110
NM_001999.4(FBN2):c.294C>T (p.Cys98=) rs765214316
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=) rs532983875
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=) rs185809581
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=) rs769005512
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=) rs761867143
NM_001999.4(FBN2):c.3519C>G (p.Thr1173=) rs369851490
NM_001999.4(FBN2):c.3582C>T (p.Ser1194=) rs767169845
NM_001999.4(FBN2):c.3702G>A (p.Thr1234=) rs374833053
NM_001999.4(FBN2):c.402T>C (p.Ser134=) rs189523150
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433
NM_001999.4(FBN2):c.4257T>C (p.Cys1419=) rs757117534
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=) rs138665246
NM_001999.4(FBN2):c.432A>G (p.Lys144=) rs201247200
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922
NM_001999.4(FBN2):c.4497C>T (p.Asn1499=) rs368341114
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906
NM_001999.4(FBN2):c.4851C>G (p.Pro1617=) rs759989646
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.5112G>A (p.Gly1704=) rs143164479
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.4(FBN2):c.5640G>A (p.Ala1880=) rs762588295
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638
NM_001999.4(FBN2):c.5754C>A (p.Ile1918=) rs1554119714
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=) rs746307443
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=) rs150627604
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843
NM_001999.4(FBN2):c.6516C>T (p.Val2172=) rs904224193
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239
NM_001999.4(FBN2):c.6687C>T (p.Thr2229=) rs886039206
NM_001999.4(FBN2):c.6834G>A (p.Thr2278=) rs374853253
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=) rs886039130
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=) rs28763928
NM_001999.4(FBN2):c.7068C>T (p.Asn2356=) rs1554117256
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.4(FBN2):c.7188A>G (p.Gln2396=) rs1554117125
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) rs148014419
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=) rs114376818
NM_001999.4(FBN2):c.7317T>C (p.His2439=) rs1554117089
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.4(FBN2):c.756G>A (p.Glu252=) rs565550310
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923
NM_001999.4(FBN2):c.7653G>C (p.Leu2551=) rs886038893
NM_001999.4(FBN2):c.7659G>A (p.Gly2553=) rs763586091
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166
NM_001999.4(FBN2):c.7938C>T (p.His2646=) rs886038837
NM_001999.4(FBN2):c.8064G>A (p.Gln2688=) rs751485739
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=) rs201634501
NM_001999.4(FBN2):c.8127C>G (p.Gly2709=) rs141841206
NM_001999.4(FBN2):c.8196C>T (p.His2732=) rs780426123
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101
NM_001999.4(FBN2):c.8253C>T (p.Val2751=) rs140631421
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920
NM_001999.4(FBN2):c.8310T>C (p.Tyr2770=) rs761386167
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=) rs371397121
NM_001999.4(FBN2):c.8481C>G (p.Pro2827=) rs886038981
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) rs200345491
NM_001999.4(FBN2):c.8589C>T (p.Leu2863=) rs886038784
NM_001999.4(FBN2):c.891C>A (p.Gly297=) rs539258943
NM_001999.4(FBN2):c.906A>G (p.Arg302=) rs1554069994

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