ClinVar Miner

List of variants in gene FBN2 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 265
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327 0.00041
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser) rs148493036 0.00028
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr) rs139035999 0.00026
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys) rs371512923 0.00016
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281 0.00014
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr) rs545524318 0.00014
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly) rs199560824 0.00014
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142 0.00012
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu) rs141707850 0.00012
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp) rs138389072 0.00011
NM_001999.4(FBN2):c.2108G>A (p.Arg703His) rs567790419 0.00011
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val) rs141854054 0.00011
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_001999.4(FBN2):c.2717G>A (p.Arg906His) rs370973542 0.00010
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607 0.00010
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met) rs2307109 0.00010
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val) rs202218356 0.00009
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln) rs201113098 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg) rs745528502 0.00007
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582 0.00007
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile) rs138046782 0.00006
NM_001999.4(FBN2):c.2978G>A (p.Arg993His) rs774483323 0.00006
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro) rs143195229 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_001999.4(FBN2):c.6833C>A (p.Thr2278Lys) rs2307109 0.00006
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00006
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_001999.4(FBN2):c.7963G>A (p.Glu2655Lys) rs753526426 0.00006
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser) rs760817242 0.00006
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807 0.00006
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00006
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096 0.00005
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp) rs863223554 0.00005
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val) rs751400994 0.00005
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715 0.00004
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys) rs1204772554 0.00004
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978 0.00004
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn) rs751406554 0.00004
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu) rs771467729 0.00004
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His) rs776040052 0.00004
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp) rs773305589 0.00004
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069 0.00004
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268 0.00004
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_001999.4(FBN2):c.244G>A (p.Val82Met) rs550387143 0.00003
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp) rs142249689 0.00003
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter) rs863223569 0.00003
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys) rs746570981 0.00003
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu) rs142185964 0.00003
NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala) rs28763942 0.00003
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His) rs771260299 0.00003
NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr) rs546148828 0.00003
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His) rs189964478 0.00003
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys) rs995323393 0.00003
NM_001999.4(FBN2):c.7879G>A (p.Gly2627Ser) rs369568420 0.00003
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser) rs372206279 0.00003
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576 0.00003
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys) rs781069799 0.00003
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln) rs748051713 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_001999.4(FBN2):c.2620A>C (p.Asn874His) rs1297639505 0.00002
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu) rs772041342 0.00002
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly) rs764809572 0.00002
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly) rs770483769 0.00002
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847 0.00002
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser) rs769474473 0.00002
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln) rs749907917 0.00002
NM_001999.4(FBN2):c.672G>T (p.Met224Ile) rs371292311 0.00002
NM_001999.4(FBN2):c.6881-5T>G rs772186151 0.00002
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys) rs886038992 0.00002
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu) rs199583859 0.00002
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys) rs764032053 0.00002
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val) rs775848753 0.00002
NM_001999.4(FBN2):c.785G>A (p.Arg262Gln) rs763997393 0.00002
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564 0.00002
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His) rs753753954 0.00002
NM_001999.4(FBN2):c.-2C>A rs776371080 0.00001
NM_001999.4(FBN2):c.1180C>T (p.Arg394Cys) rs563228953 0.00001
NM_001999.4(FBN2):c.1234G>A (p.Glu412Lys) rs962522833 0.00001
NM_001999.4(FBN2):c.1505C>G (p.Ala502Gly) rs369405711 0.00001
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser) rs863223553 0.00001
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668 0.00001
NM_001999.4(FBN2):c.220G>A (p.Val74Ile) rs779812100 0.00001
NM_001999.4(FBN2):c.2375G>A (p.Arg792His) rs374031658 0.00001
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg) rs749819006 0.00001
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp) rs138429045 0.00001
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607 0.00001
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005 0.00001
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser) rs138303817 0.00001
NM_001999.4(FBN2):c.3721A>G (p.Thr1241Ala) rs754701797 0.00001
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe) rs1263059454 0.00001
NM_001999.4(FBN2):c.3884A>G (p.Asp1295Gly) rs775987665 0.00001
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys) rs922751471 0.00001
NM_001999.4(FBN2):c.3958A>G (p.Met1320Val) rs759481427 0.00001
NM_001999.4(FBN2):c.3971T>C (p.Ile1324Thr) rs150872093 0.00001
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala) rs768722316 0.00001
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly) rs1407868144 0.00001
NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn) rs367961012 0.00001
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile) rs199668238 0.00001
NM_001999.4(FBN2):c.460A>G (p.Met154Val) rs878854475 0.00001
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr) rs750116860 0.00001
NM_001999.4(FBN2):c.488A>G (p.His163Arg) rs1029299660 0.00001
NM_001999.4(FBN2):c.5063G>A (p.Arg1688His) rs770803581 0.00001
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile) rs572030603 0.00001
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys) rs767932789 0.00001
NM_001999.4(FBN2):c.5762A>G (p.Asn1921Ser) rs1160016215 0.00001
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser) rs863223578 0.00001
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr) rs369652475 0.00001
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg) rs1314671452 0.00001
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp) rs547583705 0.00001
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys) rs368453513 0.00001
NM_001999.4(FBN2):c.6445+5G>A rs761871037 0.00001
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile) rs1394667470 0.00001
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His) rs745396297 0.00001
NM_001999.4(FBN2):c.671T>C (p.Met224Thr) rs886038798 0.00001
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val) rs943225631 0.00001
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg) rs764759689 0.00001
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser) rs576501460 0.00001
NM_001999.4(FBN2):c.7565T>C (p.Val2522Ala) rs886039005 0.00001
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr) rs1245151549 0.00001
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn) rs529742815 0.00001
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys) rs772841538 0.00001
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg) rs772928933 0.00001
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp) rs888064842 0.00001
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly) rs768293070 0.00001
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter) rs1752991946
NM_001999.4(FBN2):c.107A>G (p.Lys36Arg)
NM_001999.4(FBN2):c.1126G>T (p.Ala376Ser) rs746951402
NM_001999.4(FBN2):c.116G>C (p.Arg39Pro)
NM_001999.4(FBN2):c.1189G>A (p.Gly397Ser)
NM_001999.4(FBN2):c.1210G>T (p.Ala404Ser)
NM_001999.4(FBN2):c.1231+4C>T
NM_001999.4(FBN2):c.1257T>A (p.Asp419Glu)
NM_001999.4(FBN2):c.1267A>G (p.Met423Val)
NM_001999.4(FBN2):c.1347T>G (p.Asn449Lys)
NM_001999.4(FBN2):c.1411G>T (p.Val471Phe)
NM_001999.4(FBN2):c.1724A>C (p.Asp575Ala)
NM_001999.4(FBN2):c.1739T>C (p.Ile580Thr)
NM_001999.4(FBN2):c.1769G>A (p.Arg590Gln)
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala) rs1554064868
NM_001999.4(FBN2):c.1781C>T (p.Thr594Ile)
NM_001999.4(FBN2):c.1804del (p.Cys602fs) rs886038824
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe) rs1060503507
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser) rs748715881
NM_001999.4(FBN2):c.1996G>A (p.Gly666Arg)
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn) rs869025430
NM_001999.4(FBN2):c.2095+2_2095+7del rs1752033073
NM_001999.4(FBN2):c.2150G>A (p.Arg717His)
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg) rs149733159
NM_001999.4(FBN2):c.2257C>T (p.His753Tyr)
NM_001999.4(FBN2):c.2329G>A (p.Asp777Asn)
NM_001999.4(FBN2):c.2342A>G (p.Asn781Ser)
NM_001999.4(FBN2):c.2365G>A (p.Gly789Ser) rs886038969
NM_001999.4(FBN2):c.2406T>G (p.Asp802Glu) rs568169177
NM_001999.4(FBN2):c.2478C>G (p.Cys826Trp) rs1554125090
NM_001999.4(FBN2):c.248T>C (p.Leu83Pro)
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala) rs878854474
NM_001999.4(FBN2):c.2606A>C (p.Asn869Thr)
NM_001999.4(FBN2):c.2698C>G (p.Leu900Val) rs1057524854
NM_001999.4(FBN2):c.2698C>T (p.Leu900Phe) rs1057524854
NM_001999.4(FBN2):c.281A>G (p.His94Arg)
NM_001999.4(FBN2):c.2836G>T (p.Ala946Ser) rs886038950
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.3241C>G (p.Pro1081Ala) rs863223601
NM_001999.4(FBN2):c.3290A>G (p.Lys1097Arg)
NM_001999.4(FBN2):c.3361A>G (p.Ile1121Val)
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys) rs886039059
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr) rs863223567
NM_001999.4(FBN2):c.3643A>G (p.Lys1215Glu)
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr) rs1306804578
NM_001999.4(FBN2):c.3812G>C (p.Gly1271Ala)
NM_001999.4(FBN2):c.4042T>C (p.Phe1348Leu)
NM_001999.4(FBN2):c.4053C>G (p.His1351Gln)
NM_001999.4(FBN2):c.4140G>C (p.Met1380Ile)
NM_001999.4(FBN2):c.4180A>C (p.Ser1394Arg)
NM_001999.4(FBN2):c.4184G>T (p.Cys1395Phe) rs886038935
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg) rs1554122552
NM_001999.4(FBN2):c.4235G>A (p.Cys1412Tyr)
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala) rs1060503506
NM_001999.4(FBN2):c.4267G>T (p.Ala1423Ser)
NM_001999.4(FBN2):c.4316G>A (p.Gly1439Asp) rs886039151
NM_001999.4(FBN2):c.436+4T>G
NM_001999.4(FBN2):c.4552G>A (p.Asp1518Asn)
NM_001999.4(FBN2):c.4559G>T (p.Gly1520Val) rs886038767
NM_001999.4(FBN2):c.4672T>A (p.Cys1558Ser)
NM_001999.4(FBN2):c.4709G>T (p.Gly1570Val)
NM_001999.4(FBN2):c.4748T>C (p.Phe1583Ser)
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln) rs143195229
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro) rs886038891
NM_001999.4(FBN2):c.4877G>T (p.Ser1626Ile) rs1403929477
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp) rs1554120359
NM_001999.4(FBN2):c.4978C>A (p.Leu1660Ile)
NM_001999.4(FBN2):c.4994A>G (p.Asn1665Ser) rs886038773
NM_001999.4(FBN2):c.5003A>G (p.Asn1668Ser)
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His) rs1554120349
NM_001999.4(FBN2):c.5062C>T (p.Arg1688Cys)
NM_001999.4(FBN2):c.5176G>A (p.Val1726Ile)
NM_001999.4(FBN2):c.5531T>C (p.Leu1844Pro) rs755917639
NM_001999.4(FBN2):c.5552T>C (p.Ile1851Thr)
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys) rs1201284691
NM_001999.4(FBN2):c.5779C>A (p.Gln1927Lys)
NM_001999.4(FBN2):c.6046+4_6046+7del
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly) rs886038814
NM_001999.4(FBN2):c.6145G>C (p.Val2049Leu)
NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met)
NM_001999.4(FBN2):c.6167-3C>A rs878854477
NM_001999.4(FBN2):c.6185A>G (p.Glu2062Gly)
NM_001999.4(FBN2):c.6280C>T (p.Arg2094Trp) rs1262453464
NM_001999.4(FBN2):c.6346C>T (p.Pro2116Ser)
NM_001999.4(FBN2):c.6512-2A>G rs863223580
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu) rs200489152
NM_001999.4(FBN2):c.6764A>G (p.Asn2255Ser) rs886039147
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys) rs1419124277
NM_001999.4(FBN2):c.7013-7_7013-5delinsCC
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala) rs764330020
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr) rs771718967
NM_001999.4(FBN2):c.7112C>G (p.Ser2371Ter) rs1461140915
NM_001999.4(FBN2):c.7153C>A (p.Leu2385Ile)
NM_001999.4(FBN2):c.7195T>A (p.Ser2399Thr) rs1554117123
NM_001999.4(FBN2):c.7201A>C (p.Ser2401Arg) rs777558947
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val) rs886038938
NM_001999.4(FBN2):c.7260C>G (p.His2420Gln) rs775251012
NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln) rs28763925
NM_001999.4(FBN2):c.756G>T (p.Glu252Asp) rs565550310
NM_001999.4(FBN2):c.761G>C (p.Cys254Ser) rs755760127
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly) rs863223589
NM_001999.4(FBN2):c.7796G>A (p.Cys2599Tyr) rs1554116599
NM_001999.4(FBN2):c.7841-3C>T rs1554116417
NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu) rs1554116412
NM_001999.4(FBN2):c.7901G>A (p.Gly2634Asp) rs756511141
NM_001999.4(FBN2):c.7913G>A (p.Gly2638Asp)
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser) rs763870762
NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu) rs749888746
NM_001999.4(FBN2):c.809G>A (p.Arg270His) rs148971572
NM_001999.4(FBN2):c.8119A>C (p.Asn2707His) rs886039073
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8167C>G (p.Pro2723Ala)
NM_001999.4(FBN2):c.8193-4A>G rs200964477
NM_001999.4(FBN2):c.8279A>C (p.Glu2760Ala) rs56023452
NM_001999.4(FBN2):c.827A>T (p.Asp276Val)
NM_001999.4(FBN2):c.8395A>G (p.Met2799Val)
NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)
NM_001999.4(FBN2):c.8470G>T (p.Ala2824Ser) rs868262960
NM_001999.4(FBN2):c.847A>G (p.Ile283Val)
NM_001999.4(FBN2):c.848T>C (p.Ile283Thr)
NM_001999.4(FBN2):c.8545C>G (p.Gln2849Glu)
NM_001999.4(FBN2):c.8597G>T (p.Gly2866Val) rs886038818
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys) rs779659640
NM_001999.4(FBN2):c.924A>T (p.Lys308Asn)

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