ClinVar Miner

List of variants in gene FBN2 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 273
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HGVS dbSNP
NM_001999.4(FBN2):c.1055C>T (p.Ser352Leu) rs863223548
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly) rs761066631
NM_001999.4(FBN2):c.1079-8A>T rs761013637
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu) rs562268545
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083
NM_001999.4(FBN2):c.1123T>C (p.Cys375Arg) rs771054241
NM_001999.4(FBN2):c.1140G>A (p.Pro380=) rs532059159
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly) rs763202121
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910
NM_001999.4(FBN2):c.1201A>G (p.Ile401Val) rs863223549
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly) rs140464202
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu) rs773011327
NM_001999.4(FBN2):c.1270G>A (p.Gly424Arg) rs863223550
NM_001999.4(FBN2):c.1316G>A (p.Gly439Glu) rs1554066016
NM_001999.4(FBN2):c.1328C>T (p.Ala443Val) rs863223551
NM_001999.4(FBN2):c.1365G>T (p.Gly455=) rs794726987
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp) rs748584140
NM_001999.4(FBN2):c.139G>T (p.Val47Phe)
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg) rs200440156
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327
NM_001999.4(FBN2):c.1453A>G (p.Ile485Val) rs772773731
NM_001999.4(FBN2):c.1481C>A (p.Thr494Lys)
NM_001999.4(FBN2):c.1502A>C (p.His501Pro) rs773361111
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421
NM_001999.4(FBN2):c.1607_1609del (p.Val536del) rs863223594
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu) rs182651973
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp) rs138389072
NM_001999.4(FBN2):c.1724-2A>G rs876661172
NM_001999.4(FBN2):c.1727T>C (p.Ile576Thr) rs863223552
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser) rs1057523294
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser) rs863223553
NM_001999.4(FBN2):c.1841A>T (p.Asn614Ile) rs770876270
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp) rs863223554
NM_001999.4(FBN2):c.1899del (p.Asn634fs) rs1581250307
NM_001999.4(FBN2):c.1913G>C (p.Ser638Thr) rs886042112
NM_001999.4(FBN2):c.1922G>A (p.Cys641Tyr) rs863223555
NM_001999.4(FBN2):c.1924A>G (p.Ile642Val) rs863223598
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro) rs863223556
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668
NM_001999.4(FBN2):c.2027G>A (p.Ser676Asn)
NM_001999.4(FBN2):c.2029G>A (p.Glu677Lys) rs753334611
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser) rs767317022
NM_001999.4(FBN2):c.2084G>A (p.Arg695His) rs143722436
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668
NM_001999.4(FBN2):c.2108G>A (p.Arg703His) rs567790419
NM_001999.4(FBN2):c.2155T>C (p.Phe719Leu) rs863223557
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser) rs148493036
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg) rs745528502
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681
NM_001999.4(FBN2):c.2308A>C (p.Asn770His) rs772662395
NM_001999.4(FBN2):c.2361_2362insAA (p.Arg788fs) rs1554063788
NM_001999.4(FBN2):c.2384G>C (p.Cys795Ser) rs1057524398
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys) rs762606715
NM_001999.4(FBN2):c.2555-6T>C rs376507178
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr) rs139035999
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly) rs863223558
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg) rs778473524
NM_001999.4(FBN2):c.2687G>A (p.Gly896Glu) rs767271613
NM_001999.4(FBN2):c.2698C>T (p.Leu900Phe) rs1057524854
NM_001999.4(FBN2):c.2717G>T (p.Arg906Leu) rs370973542
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg) rs863223599
NM_001999.4(FBN2):c.2753C>A (p.Ser918Tyr) rs761190567
NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr) rs863223559
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly) rs863223560
NM_001999.4(FBN2):c.2878G>A (p.Glu960Lys) rs876661212
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg) rs749854367
NM_001999.4(FBN2):c.2996G>A (p.Arg999His) rs1342942240
NM_001999.4(FBN2):c.3003G>A (p.Glu1001=) rs1064797312
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=) rs371640952
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn) rs863223561
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro) rs139620380
NM_001999.4(FBN2):c.3088G>C (p.Gly1030Arg) rs863223600
NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys) rs773473369
NM_001999.4(FBN2):c.3116A>T (p.Glu1039Val) rs1057524269
NM_001999.4(FBN2):c.313C>T (p.Pro105Ser) rs1581379020
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys) rs771853346
NM_001999.4(FBN2):c.3145G>C (p.Glu1049Gln) rs771853346
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met) rs150506063
NM_001999.4(FBN2):c.3162C>T (p.Arg1054=) rs765015874
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr) rs139118782
NM_001999.4(FBN2):c.3236C>T (p.Ala1079Val) rs1561781258
NM_001999.4(FBN2):c.3241C>G (p.Pro1081Ala) rs863223601
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro) rs863223562
NM_001999.4(FBN2):c.3281G>A (p.Gly1094Glu) rs863223563
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531
NM_001999.4(FBN2):c.3360G>T (p.Arg1120Ser) rs863223564
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile) rs863223602
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly) rs764809572
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val) rs876661190
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp) rs771385579
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu) rs748888503
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr) rs779690646
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys) rs757232992
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly) rs770483769
NM_001999.4(FBN2):c.3685C>T (p.Pro1229Ser) rs772682329
NM_001999.4(FBN2):c.3700A>G (p.Thr1234Ala) rs745525613
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met) rs368105987
NM_001999.4(FBN2):c.3709C>A (p.Arg1237Ser) rs746570981
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys) rs746570981
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.3721A>G (p.Thr1241Ala) rs754701797
NM_001999.4(FBN2):c.3722C>T (p.Thr1241Ile) rs1171139646
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys) rs776031352
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978
NM_001999.4(FBN2):c.3811G>T (p.Gly1271Cys) rs745509023
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys) rs762514246
NM_001999.4(FBN2):c.3976G>A (p.Val1326Ile) rs763789417
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val) rs776567929
NM_001999.4(FBN2):c.4087A>G (p.Thr1363Ala) rs863223571
NM_001999.4(FBN2):c.4100-9G>T rs377002313
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261
NM_001999.4(FBN2):c.4132T>C (p.Cys1378Arg) rs863223606
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_001999.4(FBN2):c.419C>T (p.Thr140Ile)
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu) rs863223607
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011
NM_001999.4(FBN2):c.4363G>A (p.Glu1455Lys)
NM_001999.4(FBN2):c.4375C>G (p.Leu1459Val) rs863223573
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463
NM_001999.4(FBN2):c.4472-18_4472-17delinsA rs863223596
NM_001999.4(FBN2):c.4474A>T (p.Ile1492Phe) rs775167440
NM_001999.4(FBN2):c.4540C>T (p.His1514Tyr) rs863223608
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp) rs1085307489
NM_001999.4(FBN2):c.4646A>G (p.Asn1549Ser) rs863223575
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe) rs535517270
NM_001999.4(FBN2):c.4723C>T (p.Arg1575Cys) rs1581208614
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His) rs776040052
NM_001999.4(FBN2):c.4727T>C (p.Val1576Ala) rs1581208599
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val) rs770269667
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln) rs143195229
NM_001999.4(FBN2):c.4762G>T (p.Asp1588Tyr) rs1581208564
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala) rs139830237
NM_001999.4(FBN2):c.488A>G (p.His163Arg) rs1029299660
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg) rs863223609
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.4(FBN2):c.4949-3T>A rs863223576
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser) rs1085307788
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln) rs201113098
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr) rs766034866
NM_001999.4(FBN2):c.5427T>G (p.Ile1809Met) rs756365546
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala) rs1561760487
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys) rs1201284691
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe) rs150931558
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser) rs750837082
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys) rs767932789
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln) rs767932789
NM_001999.4(FBN2):c.5759A>G (p.His1920Arg) rs1554119710
NM_001999.4(FBN2):c.5800+5G>A rs375487064
NM_001999.4(FBN2):c.5845A>G (p.Lys1949Glu) rs1064796980
NM_001999.4(FBN2):c.5896A>G (p.Thr1966Ala) rs863223579
NM_001999.4(FBN2):c.58G>T (p.Val20Leu) rs756126862
NM_001999.4(FBN2):c.5950G>A (p.Val1984Met) rs1064796333
NM_001999.4(FBN2):c.595G>A (p.Val199Ile) rs1561495409
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys) rs758369648
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His) rs189964478
NM_001999.4(FBN2):c.5984G>C (p.Gly1995Ala) rs762268575
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser) rs754066538
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp) rs773305589
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser) rs772994944
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=) rs1131691293
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu) rs863223611
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) rs888075207
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843
NM_001999.4(FBN2):c.631T>G (p.Tyr211Asp) rs1554071528
NM_001999.4(FBN2):c.6320A>C (p.Asn2107Thr)
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser) rs1016100479
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu) rs141707850
NM_001999.4(FBN2):c.6414C>A (p.Asp2138Glu)
NM_001999.4(FBN2):c.6414C>G (p.Asp2138Glu)
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly) rs191065419
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp) rs537628586
NM_001999.4(FBN2):c.6546T>G (p.Cys2182Trp) rs1554118137
NM_001999.4(FBN2):c.6556C>T (p.Gln2186Ter) rs1415043313
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val) rs766808076
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser) rs863223582
NM_001999.4(FBN2):c.6680C>T (p.Thr2227Ile) rs863223583
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607
NM_001999.4(FBN2):c.6689A>G (p.Asn2230Ser) rs863223584
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser) rs863223612
NM_001999.4(FBN2):c.672G>A (p.Met224Ile) rs371292311
NM_001999.4(FBN2):c.6757+3A>G rs1057523248
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val) rs943225631
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met) rs2307109
NM_001999.4(FBN2):c.6848A>G (p.Tyr2283Cys)
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769
NM_001999.4(FBN2):c.6923G>A (p.Arg2308Lys) rs765129486
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser) rs863223613
NM_001999.4(FBN2):c.6955T>C (p.Phe2319Leu) rs863223585
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr) rs749681942
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu) rs370804151
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala) rs764330020
NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys) rs863223586
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys) rs771718967
NM_001999.4(FBN2):c.7145G>A (p.Arg2382Gln) rs757161476
NM_001999.4(FBN2):c.71A>G (p.Gln24Arg) rs764396688
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn) rs758124873
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln) rs755437836
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg) rs764759689
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile) rs201883128
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp) rs146941428
NM_001999.4(FBN2):c.7345G>A (p.Asp2449Asn) rs759198660
NM_001999.4(FBN2):c.7369C>T (p.Pro2457Ser) rs863223587
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser) rs562508529
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val) rs863223546
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120
NM_001999.4(FBN2):c.7559G>A (p.Gly2520Glu) rs766586054
NM_001999.4(FBN2):c.7636C>G (p.Leu2546Val) rs863223588
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly) rs863223589
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp) rs151329128
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg) rs768750542
NM_001999.4(FBN2):c.791G>A (p.Gly264Asp) rs746046058
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys) rs375316758
NM_001999.4(FBN2):c.7960+5G>A rs863223590
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr) rs763870762
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser) rs760817242
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051
NM_001999.4(FBN2):c.809G>A (p.Arg270His) rs148971572
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564
NM_001999.4(FBN2):c.8192+7C>T rs376135657
NM_001999.4(FBN2):c.8193-7C>G rs754837805
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu) rs149180427
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444
NM_001999.4(FBN2):c.8279A>C (p.Glu2760Ala) rs56023452
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169
NM_001999.4(FBN2):c.8387G>C (p.Ser2796Thr) rs751287011
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys) rs752384882
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys) rs863223592
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His) rs753753954
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576
NM_001999.4(FBN2):c.8648T>C (p.Leu2883Pro) rs863223614
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu)
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val) rs863223615
NM_001999.4(FBN2):c.8692G>T (p.Glu2898Ter) rs876661196
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys) rs781069799
NM_001999.4(FBN2):c.879C>G (p.Ile293Met) rs1180679857
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr) rs863223616
NM_001999.4(FBN2):c.93G>T (p.Gln31His) rs371491169

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