ClinVar Miner

List of variants reported as pathogenic for Marfan and Marfan-related disorder by OMIM

Included ClinVar conditions (33):
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ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg) rs137854472 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 0.00001
NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val) rs121918713 0.00001
NC_000015.9:g.48793164_49095744del
NG_008805.2:g.(135403_137120)_(206249_208942)del
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile) rs137854462
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.3037G>C (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr) rs137854481
NM_000138.5(FBN1):c.3192del (p.Glu1065fs) rs1131692050
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3220T>C (p.Cys1074Arg) rs137854465
NM_000138.5(FBN1):c.3257G>A (p.Cys1086Tyr) rs137854484
NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr) rs137854470
NM_000138.5(FBN1):c.3386G>A (p.Cys1129Tyr) rs137854482
NM_000138.5(FBN1):c.3391A>T (p.Asn1131Tyr) rs137854473
NM_000138.5(FBN1):c.3662G>A (p.Cys1221Tyr) rs137854483
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr) rs137854469
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser) rs137854458
NM_000138.5(FBN1):c.3793T>C (p.Cys1265Arg) rs137854474
NM_000138.5(FBN1):c.3965-2A>T rs387906547
NM_000138.5(FBN1):c.4087+1G>A rs387906548
NM_000138.5(FBN1):c.4253_4259del (p.Gly1418fs) rs398122934
NM_000138.5(FBN1):c.4987T>C (p.Cys1663Arg) rs137854459
NM_000138.5(FBN1):c.5788+1G>A rs1555395819
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter) rs267606797
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser) rs137854460
NM_000138.5(FBN1):c.6739+1G>C rs869025419
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7455_7821del
NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter) rs267606796
NM_001999.4(FBN2):c.1171G>A (p.Glu391Lys) rs137852826
NM_001999.4(FBN2):c.3343G>C (p.Asp1115His) rs137852827
NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe) rs137852828
NM_001999.4(FBN2):c.3725-15A>G rs587776519
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr) rs137852825
NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp) rs28931602
NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys) rs267606802
NM_001999.4(FBN2):c.3974-26T>G rs2126895611
NM_001999.4(FBN2):c.4346-2A>T rs587776518
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.100G>T (p.Gly34Cys) rs387907306
NM_003036.4(SKI):c.101G>A (p.Gly34Asp) rs387907305
NM_003036.4(SKI):c.101G>T (p.Gly34Val) rs387907305
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.280_291del (p.Ser94_Ser97del) rs398122914
NM_003036.4(SKI):c.283_291del (p.Asp95_Ser97del) rs398122889
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003036.4(SKI):c.94C>G (p.Leu32Val) rs387907304
NM_003238.6(TGFB2):c.1013C>A (p.Pro338His) rs387907278
NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs) rs398122884
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_003238.6(TGFB2):c.687C>A (p.Cys229Ter) rs398122885
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_003239.5(TGFB3):c.1226G>A (p.Cys409Tyr) rs398122984
NM_003239.5(TGFB3):c.704del (p.Asn235fs) rs875989817
NM_003239.5(TGFB3):c.754+2T>C rs875989816
NM_003239.5(TGFB3):c.787G>C (p.Asp263His) rs796051886
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) rs587777617
NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn) rs104893812
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813
NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp) rs104893814
NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val) rs104893817
NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu) rs104893818
NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe) rs104893807
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003242.6(TGFBR2):c.1397-2A>G rs587776770
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=) rs121918715
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro) rs28934568
NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly) rs121918711
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro) rs113605875
NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile) rs121918712
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg) rs121918710
NM_005901.6(SMAD2):c.1082A>C (p.Asn361Thr) rs2144290354
NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg) rs746828424
NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser) rs2144276501
NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg) rs2144276285
NM_005901.6(SMAD2):c.612dup (p.Asn205Ter) rs2144373131
NM_005901.6(SMAD2):c.833C>T (p.Ala278Val) rs2144300734
NM_005902.4(SMAD3):c.1081G>T (p.Glu361Ter) rs387906856
NM_005902.4(SMAD3):c.313del (p.Ala105fs) rs587776882
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val) rs387906854
NM_005902.4(SMAD3):c.653del (p.Asn218fs) rs587776881
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.741_742del (p.Phe248fs) rs587776880
NM_005902.4(SMAD3):c.782C>T (p.Thr261Ile) rs387906851
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys) rs387906852
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) rs387906850

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