ClinVar Miner

List of variants reported as likely pathogenic for Marfan syndrome; Thoracic aortic aneurysm and aortic dissection

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Total variants: 110
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HGVS dbSNP
NC_000015.9:g.(?_48736718)_(48737721_?)del
NC_000015.9:g.(?_48812836)_(48905309_?)dup
NC_000015.9:g.(?_48888460)_(48905309_?)dup
NM_000138.4(FBN1):c.1079G>A (p.Cys360Tyr) rs1555400601
NM_000138.4(FBN1):c.1098G>C (p.Trp366Cys)
NM_000138.4(FBN1):c.1129T>C (p.Cys377Arg) rs886039066
NM_000138.4(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.4(FBN1):c.1481G>A (p.Cys494Tyr) rs1057518881
NM_000138.4(FBN1):c.1525G>T (p.Gly509Cys) rs1060501073
NM_000138.4(FBN1):c.1538G>C (p.Cys513Ser)
NM_000138.4(FBN1):c.1538G>T (p.Cys513Phe) rs1060501036
NM_000138.4(FBN1):c.1670G>T (p.Cys557Phe) rs1057521102
NM_000138.4(FBN1):c.1710T>G (p.Cys570Trp)
NM_000138.4(FBN1):c.1868G>A (p.Cys623Tyr) rs1566914030
NM_000138.4(FBN1):c.2087G>T (p.Cys696Phe) rs1566913685
NM_000138.4(FBN1):c.2113+2T>G rs730880105
NM_000138.4(FBN1):c.2201G>A (p.Cys734Tyr) rs794728187
NM_000138.4(FBN1):c.2306G>T (p.Cys769Phe)
NM_000138.4(FBN1):c.247+3A>C
NM_000138.4(FBN1):c.2723G>C (p.Cys908Ser) rs1057523406
NM_000138.4(FBN1):c.2728+1G>C rs794728322
NM_000138.4(FBN1):c.2728_2728+1delGGinsAA rs1566911331
NM_000138.4(FBN1):c.2738A>C (p.Glu913Ala) rs1555398995
NM_000138.4(FBN1):c.2740T>C (p.Cys914Arg)
NM_000138.4(FBN1):c.2873G>C (p.Cys958Ser) rs1555398834
NM_000138.4(FBN1):c.2953G>T (p.Gly985Trp) rs794728199
NM_000138.4(FBN1):c.2977T>C (p.Cys993Arg) rs1206813753
NM_000138.4(FBN1):c.2986T>C (p.Cys996Arg) rs140592
NM_000138.4(FBN1):c.3203G>C (p.Cys1068Ser)
NM_000138.4(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.4(FBN1):c.3596A>G (p.Asp1199Gly) rs794728206
NM_000138.4(FBN1):c.3794G>C (p.Cys1265Ser) rs1555398279
NM_000138.4(FBN1):c.3977G>A (p.Cys1326Tyr) rs1555397738
NM_000138.4(FBN1):c.3G>A (p.Met1Ile) rs886039072
NM_000138.4(FBN1):c.4044T>G (p.Cys1348Trp) rs1555397719
NM_000138.4(FBN1):c.4099T>A (p.Cys1367Ser) rs1555397670
NM_000138.4(FBN1):c.4172G>A (p.Cys1391Tyr) rs1352478541
NM_000138.4(FBN1):c.4244G>A (p.Cys1415Tyr) rs1555397556
NM_000138.4(FBN1):c.4330T>A (p.Cys1444Ser) rs869025406
NM_000138.4(FBN1):c.433T>C (p.Cys145Arg) rs1555405031
NM_000138.4(FBN1):c.4367G>T (p.Cys1456Phe) rs397515805
NM_000138.4(FBN1):c.442+1G>A rs868403743
NM_000138.4(FBN1):c.443-1G>A rs1555404821
NM_000138.4(FBN1):c.4459+2T>G rs1555397393
NM_000138.4(FBN1):c.4582+2dup rs1555397194
NM_000138.4(FBN1):c.4583-5A>G rs778966916
NM_000138.4(FBN1):c.4747+5G>T rs193922209
NM_000138.4(FBN1):c.4816+1G>C rs1555397014
NM_000138.4(FBN1):c.4817-2A>G rs1555397008
NM_000138.4(FBN1):c.4891T>A (p.Cys1631Ser) rs1555396998
NM_000138.4(FBN1):c.4973G>A (p.Cys1658Tyr) rs1555396859
NM_000138.4(FBN1):c.5066-9_5086dup rs1566903283
NM_000138.4(FBN1):c.5417G>T (p.Cys1806Phe) rs1555396418
NM_000138.4(FBN1):c.5422_5422+1delGGinsTT rs1566901570
NM_000138.4(FBN1):c.5545+1delG rs1566900469
NM_000138.4(FBN1):c.5672-87A>G rs1060501029
NM_000138.4(FBN1):c.5699G>A (p.Cys1900Tyr) rs794728237
NM_000138.4(FBN1):c.5720A>G (p.Asn1907Ser) rs1060501087
NM_000138.4(FBN1):c.5788+2T>C rs1555395818
NM_000138.4(FBN1):c.5788+6T>G rs1566898741
NM_000138.4(FBN1):c.5824T>G (p.Cys1942Gly) rs1555395762
NM_000138.4(FBN1):c.5825G>A (p.Cys1942Tyr)
NM_000138.4(FBN1):c.5839T>C (p.Cys1947Arg) rs1131691938
NM_000138.4(FBN1):c.5885A>G (p.Tyr1962Cys) rs1346043320
NM_000138.4(FBN1):c.5918-2A>G rs869025418
NM_000138.4(FBN1):c.6051T>G (p.Cys2017Trp) rs1566897420
NM_000138.4(FBN1):c.6163+1G>A rs1566897374
NM_000138.4(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.4(FBN1):c.6380-2A>G rs886041482
NM_000138.4(FBN1):c.6412_6441del (p.Lys2138_Gly2147del) rs1566896070
NM_000138.4(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.4(FBN1):c.6452G>A (p.Cys2151Tyr)
NM_000138.4(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.4(FBN1):c.6568T>A (p.Cys2190Ser) rs1566895263
NM_000138.4(FBN1):c.6617-2A>C
NM_000138.4(FBN1):c.6689G>A (p.Cys2230Tyr) rs1555394904
NM_000138.4(FBN1):c.6740-3C>G rs1566894334
NM_000138.4(FBN1):c.6872-961A>G
NM_000138.4(FBN1):c.6906T>G (p.Cys2302Trp) rs1555394634
NM_000138.4(FBN1):c.701G>A (p.Gly234Asp) rs1555401670
NM_000138.4(FBN1):c.7134C>G (p.Cys2378Trp) rs1555394562
NM_000138.4(FBN1):c.7204+1G>A rs1555394557
NM_000138.4(FBN1):c.7238G>C (p.Cys2413Ser) rs1566892915
NM_000138.4(FBN1):c.7279T>C (p.Cys2427Arg) rs1566892883
NM_000138.4(FBN1):c.7298A>G (p.Tyr2433Cys) rs1555394437
NM_000138.4(FBN1):c.7365C>G (p.Cys2455Trp) rs1555394408
NM_000138.4(FBN1):c.737-17_740delCTTCTGTAATCTGACAGATGT
NM_000138.4(FBN1):c.7376G>T (p.Cys2459Phe)
NM_000138.4(FBN1):c.7487G>T (p.Cys2496Phe) rs1555394245
NM_000138.4(FBN1):c.7525T>G (p.Cys2509Gly) rs1060501055
NM_000138.4(FBN1):c.7532G>A (p.Cys2511Tyr) rs1555394238
NM_000138.4(FBN1):c.7571-1G>A rs1566891706
NM_000138.4(FBN1):c.7654T>C (p.Cys2552Arg) rs1566891668
NM_000138.4(FBN1):c.7784G>A (p.Gly2595Asp) rs397515857
NM_000138.4(FBN1):c.7819+1G>T rs112907302
NM_000138.4(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.4(FBN1):c.7936T>A (p.Cys2646Ser)
NM_000138.4(FBN1):c.7982A>G (p.Tyr2661Cys) rs112196241
NM_000138.4(FBN1):c.7987T>C (p.Cys2663Arg) rs1566889870
NM_000138.4(FBN1):c.7987_8004del (p.Cys2663_Gly2668del)
NM_000138.4(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.4(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.4(FBN1):c.8015G>T (p.Cys2672Phe)
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.8042T>G (p.Ile2681Arg) rs1555393825
NM_000138.4(FBN1):c.8329del (p.Ile2777fs) rs1566888689
NM_000138.4(FBN1):c.8335G>T (p.Glu2779Ter) rs1555393551
NM_000138.4(FBN1):c.8447A>C (p.His2816Pro) rs1555393532
NM_000138.4(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.4(FBN1):c.8561del (p.Leu2854fs) rs1060501033

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