ClinVar Miner

List of variants reported as benign for congenital contractural arachnodactyly by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 285
Download table as spreadsheet
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.533-2432T>C rs17677603 0.50039
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.203C>T (p.Ala68Val) rs62390671 0.03303
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.3015G>A (p.Leu1005=) rs28763946 0.01862
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.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
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.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
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.4141C>A (p.His1381Asn) rs78727187 0.00327
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.2428+6T>A rs77493726 0.00225
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.5353+19C>T rs183524866 0.00179
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226 0.00178
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.953-8T>G rs201818403 0.00152
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_001999.4(FBN2):c.4595-11G>C rs199640787 0.00135
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.4791C>T (p.Ile1597=) rs147040906 0.00115
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_001999.4(FBN2):c.4100-9G>T rs377002313 0.00106
NM_001999.4(FBN2):c.4949-18C>G rs372234336 0.00106
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167 0.00102
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531 0.00102
NM_001999.4(FBN2):c.4222+12A>G rs79445561 0.00101
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.132G>C (p.Pro44=) rs199702573 0.00067
NM_001999.4(FBN2):c.7841-16G>T rs201231807 0.00063
NM_001999.4(FBN2):c.1749G>A (p.Gly583=) rs75940000 0.00061
NM_001999.4(FBN2):c.4472-12T>A rs551686237 0.00054
NM_001999.4(FBN2):c.3595G>A (p.Val1199Met) rs146997253 0.00048
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_001999.4(FBN2):c.8043C>A (p.Pro2681=) rs149502195 0.00041
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=) rs114376818 0.00036
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_001999.4(FBN2):c.1057A>G (p.Thr353Ala) rs149992874 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_001999.4(FBN2):c.2249-19A>G rs193091226 0.00026
NM_001999.4(FBN2):c.5353+16G>A rs187448568 0.00026
NM_001999.4(FBN2):c.8364+18dup rs752497923 0.00026
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977 0.00024
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=) rs750681115 0.00023
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_001999.4(FBN2):c.7013-7T>A rs191729449 0.00022
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874 0.00019
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843 0.00018
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys) rs371512923 0.00016
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe) rs150931558 0.00015
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr) rs545524318 0.00014
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val) rs756500246 0.00012
NM_001999.4(FBN2):c.7594+12G>A rs184678810 0.00012
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp) rs138389072 0.00011
NM_001999.4(FBN2):c.1850-14A>G rs201359451 0.00011
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933 0.00011
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val) rs141854054 0.00011
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys) rs375316758 0.00011
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp) rs375093230 0.00010
NM_001999.4(FBN2):c.2856G>T (p.Thr952=) rs556038110 0.00010
NM_001999.4(FBN2):c.3217+13G>A rs572013507 0.00010
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser) rs145588052 0.00010
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607 0.00010
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr) rs557212203 0.00010
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757 0.00008
NM_001999.4(FBN2):c.2096-19G>A rs369377429 0.00007
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile) rs138046782 0.00006
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu) rs182651973 0.00006
NM_001999.4(FBN2):c.1682A>G (p.His561Arg) rs28763951 0.00006
NM_001999.4(FBN2):c.2978G>A (p.Arg993His) rs774483323 0.00006
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=) rs185809581 0.00006
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=) rs374456115 0.00006
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00006
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807 0.00006
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=) rs139098335 0.00006
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu) rs139189178 0.00005
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096 0.00005
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=) rs769005512 0.00005
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=) rs150627604 0.00005
NM_001999.4(FBN2):c.6297T>C (p.Thr2099=) rs770778839 0.00005
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu) rs562268545 0.00004
NM_001999.4(FBN2):c.1313G>A (p.Gly438Glu) rs751545674 0.00004
NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser) rs779849582 0.00004
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715 0.00004
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys) rs776031352 0.00004
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu) rs771467729 0.00004
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) rs888075207 0.00004
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp) rs537628586 0.00004
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290 0.00004
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_001999.4(FBN2):c.1424G>T (p.Gly475Val) rs56312356 0.00003
NM_001999.4(FBN2):c.2249-12T>C rs776314725 0.00003
NM_001999.4(FBN2):c.2258A>G (p.His753Arg) rs777266350 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.3093G>A (p.Ala1031=) rs528529593 0.00003
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=) rs192602314 0.00003
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp) rs1476723489 0.00003
NM_001999.4(FBN2):c.5353+11G>A rs572393472 0.00003
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=) rs753556200 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.6505C>T (p.Arg2169Cys) rs1450302477 0.00003
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp) rs146941428 0.00003
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala) rs752627315 0.00003
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068 0.00003
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576 0.00003
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val) rs748419325 0.00002
NM_001999.4(FBN2):c.1973-20T>C rs774598343 0.00002
NM_001999.4(FBN2):c.2901A>G (p.Pro967=) rs185991527 0.00002
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly) rs764809572 0.00002
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718 0.00002
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser) rs1016100479 0.00002
NM_001999.4(FBN2):c.6490A>G (p.Ser2164Gly) rs763160605 0.00002
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys) rs886038992 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His) rs753753954 0.00002
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr) rs750949734 0.00001
NM_001999.4(FBN2):c.1336G>A (p.Gly446Ser) rs1173562709 0.00001
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu) rs376096770 0.00001
NM_001999.4(FBN2):c.14G>A (p.Arg5Gln) rs1194684025 0.00001
NM_001999.4(FBN2):c.1812C>T (p.Ala604=) rs745811885 0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398 0.00001
NM_001999.4(FBN2):c.2271T>C (p.Ser757=) rs1338036259 0.00001
NM_001999.4(FBN2):c.2375G>A (p.Arg792His) rs374031658 0.00001
NM_001999.4(FBN2):c.2429-11G>A rs201849584 0.00001
NM_001999.4(FBN2):c.2855C>T (p.Thr952Met) rs766590294 0.00001
NM_001999.4(FBN2):c.3046G>A (p.Val1016Ile) rs773235785 0.00001
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr) rs139118782 0.00001
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=) rs761867143 0.00001
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys) rs755737169 0.00001
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala) rs768722316 0.00001
NM_001999.4(FBN2):c.4124C>T (p.Ala1375Val) rs768753485 0.00001
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile) rs199668238 0.00001
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367 0.00001
NM_001999.4(FBN2):c.4422C>T (p.Cys1474=) rs371629482 0.00001
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn) rs187786356 0.00001
NM_001999.4(FBN2):c.477T>C (p.Cys159=) rs138601900 0.00001
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln) rs774411234 0.00001
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629 0.00001
NM_001999.4(FBN2):c.61C>T (p.Leu21Phe) rs201321678 0.00001
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=) rs757216544 0.00001
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val) rs766808076 0.00001
NM_001999.4(FBN2):c.6885G>A (p.Leu2295=) rs754211806 0.00001
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=) rs28763928 0.00001
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn) rs758124873 0.00001
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg) rs764759689 0.00001
NM_001999.4(FBN2):c.7266C>T (p.Cys2422=) rs776227906 0.00001
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457 0.00001
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser) rs576501460 0.00001
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val) rs373370945 0.00001
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser) rs763408652 0.00001
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser) rs765867245 0.00001
NM_001999.4(FBN2):c.8099C>T (p.Ser2700Leu) rs776788539 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.8325C>T (p.Ser2775=) rs368712261 0.00001
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser) rs199808954 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.86A>C (p.Gln29Pro) rs771712321 0.00001
NM_001999.4(FBN2):c.1038A>G (p.Pro346=)
NM_001999.4(FBN2):c.1079-7T>C
NM_001999.4(FBN2):c.10A>G (p.Arg4Gly)
NM_001999.4(FBN2):c.1200C>A (p.Thr400=)
NM_001999.4(FBN2):c.134A>C (p.Gln45Pro)
NM_001999.4(FBN2):c.1364G>A (p.Gly455Glu)
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg) rs200440156
NM_001999.4(FBN2):c.18G>A (p.Arg6=)
NM_001999.4(FBN2):c.2359T>C (p.Leu787=)
NM_001999.4(FBN2):c.2457G>T (p.Leu819=)
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln) rs747084358
NM_001999.4(FBN2):c.2892C>T (p.Gly964=)
NM_001999.4(FBN2):c.2909G>T (p.Arg970Leu)
NM_001999.4(FBN2):c.3148A>C (p.Thr1050Pro)
NM_001999.4(FBN2):c.3217+12C>A rs375688726
NM_001999.4(FBN2):c.3321C>T (p.Asp1107=)
NM_001999.4(FBN2):c.3354G>A (p.Glu1118=)
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His) rs1297011367
NM_001999.4(FBN2):c.363T>C (p.Asp121=)
NM_001999.4(FBN2):c.3786A>C (p.Gly1262=)
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.4135G>A (p.Asp1379Asn)
NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro)
NM_001999.4(FBN2):c.4283C>T (p.Thr1428Ile) rs367961012
NM_001999.4(FBN2):c.4341C>T (p.Cys1447=)
NM_001999.4(FBN2):c.4386C>T (p.Asn1462=)
NM_001999.4(FBN2):c.4472-12del rs758812755
NM_001999.4(FBN2):c.4472-12dup
NM_001999.4(FBN2):c.4485C>T (p.Cys1495=)
NM_001999.4(FBN2):c.4681G>A (p.Asp1561Asn)
NM_001999.4(FBN2):c.5079T>C (p.Ile1693=)
NM_001999.4(FBN2):c.5092G>T (p.Ala1698Ser)
NM_001999.4(FBN2):c.5481G>C (p.Gln1827His)
NM_001999.4(FBN2):c.5565C>T (p.Ser1855=)
NM_001999.4(FBN2):c.5598C>G (p.Asp1866Glu)
NM_001999.4(FBN2):c.5675-17A>T
NM_001999.4(FBN2):c.5811G>A (p.Glu1937=)
NM_001999.4(FBN2):c.5918-10T>C rs547697385
NM_001999.4(FBN2):c.5G>A (p.Gly2Glu) rs976599275
NM_001999.4(FBN2):c.6047-9del
NM_001999.4(FBN2):c.6167-4G>T rs370981323
NM_001999.4(FBN2):c.6412G>A (p.Asp2138Asn)
NM_001999.4(FBN2):c.6570C>T (p.Thr2190=)
NM_001999.4(FBN2):c.6657C>T (p.Ile2219=)
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=) rs140044610
NM_001999.4(FBN2):c.67G>C (p.Ala23Pro) rs893243344
NM_001999.4(FBN2):c.6881-15del
NM_001999.4(FBN2):c.6924G>A (p.Arg2308=)
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.7176G>A (p.Gln2392=)
NM_001999.4(FBN2):c.7201A>G (p.Ser2401Gly)
NM_001999.4(FBN2):c.7218T>G (p.Thr2406=)
NM_001999.4(FBN2):c.7449C>T (p.Asp2483=)
NM_001999.4(FBN2):c.7554G>A (p.Pro2518=)
NM_001999.4(FBN2):c.756G>A (p.Glu252=) rs565550310
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_001999.4(FBN2):c.7734A>T (p.Gln2578His)
NM_001999.4(FBN2):c.7787G>T (p.Ser2596Ile)
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln) rs769593495
NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr) rs763870762
NM_001999.4(FBN2):c.8082C>G (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.809G>T (p.Arg270Leu) rs148971572
NM_001999.4(FBN2):c.8226G>A (p.Gly2742=)
NM_001999.4(FBN2):c.8407G>A (p.Val2803Ile)
NM_001999.4(FBN2):c.8538C>T (p.Arg2846=)
NM_001999.4(FBN2):c.8556G>A (p.Gly2852=)
NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe)
NM_001999.4(FBN2):c.8559C>T (p.Leu2853=) rs778576181
NM_001999.4(FBN2):c.857T>C (p.Ile286Thr)

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