ClinVar Miner

List of variants in gene FBN2 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.1231+37C>G rs28763953 0.03099
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_001999.4(FBN2):c.-17C>G rs372089451 0.00199
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.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
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.6655A>G (p.Ile2219Val) rs140821039 0.00102
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.2684A>G (p.Lys895Arg) rs143565958 0.00074
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) rs200345491 0.00049
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484 0.00042
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=) rs114376818 0.00036
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_001999.4(FBN2):c.1057A>G (p.Thr353Ala) rs149992874 0.00029
NM_001999.4(FBN2):c.2249-19A>G rs193091226 0.00026
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843 0.00018
NM_001999.4(FBN2):c.1466-4G>A rs371636769 0.00017
NM_001999.4(FBN2):c.2989+38A>C rs148276970 0.00015
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=) rs375141964 0.00015
NM_001999.4(FBN2):c.2469C>T (p.Asn823=) rs770997817 0.00012
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val) rs202218356 0.00009
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=) rs201634501 0.00008
NM_001999.4(FBN2):c.6063C>T (p.Val2021=) rs149380208 0.00007
NM_001999.4(FBN2):c.6512-7A>G rs201462445 0.00007
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388 0.00006
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=) rs150627604 0.00005
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715 0.00004
NM_001999.4(FBN2):c.1410C>A (p.Gly470=) rs750103822 0.00003
NM_001999.4(FBN2):c.2674+10A>G rs371734006 0.00003
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=) rs192602314 0.00003
NM_001999.4(FBN2):c.6057G>A (p.Glu2019=) rs752114619 0.00003
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=) rs771507975 0.00003
NM_001999.4(FBN2):c.8112C>T (p.Asn2704=) rs370851605 0.00003
NM_001999.4(FBN2):c.8253C>T (p.Val2751=) rs140631421 0.00003
NM_001999.4(FBN2):c.1410C>T (p.Gly470=) rs750103822 0.00002
NM_001999.4(FBN2):c.1434C>T (p.Ala478=) rs755786214 0.00002
NM_001999.4(FBN2):c.5574T>C (p.Asp1858=) rs757483263 0.00002
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=) rs746307443 0.00002
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val) rs775848753 0.00002
NM_001999.4(FBN2):c.1431G>A (p.Gly477=) rs759633050 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.432A>G (p.Lys144=) rs201247200 0.00001
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=) rs886038504 0.00001
NM_001999.4(FBN2):c.6512-3T>C rs764271022 0.00001
NM_001999.4(FBN2):c.6881-8T>G rs1355994517 0.00001
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=) rs28763928 0.00001
NM_001999.4(FBN2):c.-2C>G
NM_001999.4(FBN2):c.-5C>G
NM_001999.4(FBN2):c.1077C>T (p.Ile359=)
NM_001999.4(FBN2):c.150T>A (p.Ala50=) rs543546489
NM_001999.4(FBN2):c.2479C>A (p.Arg827=)
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.309G>A (p.Thr103=)
NM_001999.4(FBN2):c.3321C>T (p.Asp1107=)
NM_001999.4(FBN2):c.3472+10G>A
NM_001999.4(FBN2):c.3472+9C>T rs372520452
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.3921C>G (p.Arg1307=)
NM_001999.4(FBN2):c.4345+19G>A rs886038503
NM_001999.4(FBN2):c.4563T>C (p.Tyr1521=) rs1434367982
NM_001999.4(FBN2):c.4880-5T>C
NM_001999.4(FBN2):c.5103T>C (p.Gly1701=)
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5511A>G (p.Thr1837=)
NM_001999.4(FBN2):c.5675-10del rs886038505
NM_001999.4(FBN2):c.6468A>G (p.Pro2156=)
NM_001999.4(FBN2):c.6840G>A (p.Pro2280=) rs377742525
NM_001999.4(FBN2):c.7139-13T>G rs886038506
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.4(FBN2):c.8001T>A (p.Ala2667=)
NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.816A>C (p.Gly272=)
NM_001999.4(FBN2):c.816A>G (p.Gly272=)
NM_001999.4(FBN2):c.8365-8T>A
NM_001999.4(FBN2):c.8365-9T>A
NM_001999.4(FBN2):c.924A>G (p.Lys308=)

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