ClinVar Miner

List of variants reported as likely pathogenic for Loeys-Dietz syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.1561_1562del (p.Ser521fs) rs397515758
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr) rs397515759
NM_000138.5(FBN1):c.164+2T>C rs727503058
NM_000138.5(FBN1):c.1714+2del rs876657645
NM_000138.5(FBN1):c.1837+1G>T rs397515762
NM_000138.5(FBN1):c.1948dup (p.Arg650fs) rs1566913982
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg) rs397515765
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.5(FBN1):c.2447G>C (p.Cys816Ser) rs397515770
NM_000138.5(FBN1):c.2448C>G (p.Cys816Trp) rs397515771
NM_000138.5(FBN1):c.247+2dup rs397515772
NM_000138.5(FBN1):c.2488T>G (p.Cys830Gly) rs397515773
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp) rs397515776
NM_000138.5(FBN1):c.268_269delinsC (p.Gly90fs) rs397515778
NM_000138.5(FBN1):c.2691dup (p.Lys898Ter) rs397515779
NM_000138.5(FBN1):c.2833del (p.Ala945fs) rs397515781
NM_000138.5(FBN1):c.2942G>C (p.Cys981Ser) rs727505110
NM_000138.5(FBN1):c.299G>A (p.Cys100Tyr) rs397515782
NM_000138.5(FBN1):c.299G>T (p.Cys100Phe) rs397515782
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.5(FBN1):c.32_42del (p.Leu11fs) rs397515785
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3392A>G (p.Asn1131Ser) rs397515790
NM_000138.5(FBN1):c.3413G>A (p.Cys1138Tyr) rs397515791
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe) rs397515791
NM_000138.5(FBN1):c.3589G>C (p.Asp1197His) rs397515793
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala) rs397515796
NM_000138.5(FBN1):c.3886T>C (p.Cys1296Arg) rs397515797
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser) rs397515798
NM_000138.5(FBN1):c.4048T>A (p.Cys1350Ser) rs397515799
NM_000138.5(FBN1):c.4160A>G (p.Tyr1387Cys) rs397515801
NM_000138.5(FBN1):c.4251_4259del (p.Gly1418_Cys1420del) rs397515803
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser) rs397515807
NM_000138.5(FBN1):c.4367G>A (p.Cys1456Tyr) rs397515805
NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro) rs397515808
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg) rs397515811
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.5(FBN1):c.4937G>A (p.Cys1646Tyr) rs397515814
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn) rs397515816
NM_000138.5(FBN1):c.497G>C (p.Cys166Ser) rs397515818
NM_000138.5(FBN1):c.5066del (p.Asp1689fs) rs727504347
NM_000138.5(FBN1):c.5251C>T (p.Gln1751Ter) rs397515820
NM_000138.5(FBN1):c.529T>C (p.Cys177Arg) rs363853
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys) rs397515823
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu) rs113086760
NM_000138.5(FBN1):c.561del (p.Phe187fs) rs397515825
NM_000138.5(FBN1):c.5721C>G (p.Asn1907Lys) rs397515826
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.5(FBN1):c.5869C>T (p.Gln1957Ter) rs397515829
NM_000138.5(FBN1):c.5888del (p.Glu1963fs) rs727504315
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr) rs397515830
NM_000138.5(FBN1):c.6289G>T (p.Glu2097Ter) rs397515831
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr) rs363821
NM_000138.5(FBN1):c.6515_6516delinsG (p.Val2172fs) rs397515834
NM_000138.5(FBN1):c.6617-9_6617-8inv
NM_000138.5(FBN1):c.6630T>G (p.Cys2210Trp) rs397515836
NM_000138.5(FBN1):c.6656T>C (p.Phe2219Ser) rs397515837
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6841C>T (p.Gln2281Ter) rs397515840
NM_000138.5(FBN1):c.6920G>A (p.Cys2307Tyr) rs137854457
NM_000138.5(FBN1):c.7016G>A (p.Cys2339Tyr) rs1555394580
NM_000138.5(FBN1):c.7094G>A (p.Cys2365Tyr) rs397515845
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg) rs397515847
NM_000138.5(FBN1):c.7217_7226delinsTACAGA (p.Cys2406fs) rs1597516501
NM_000138.5(FBN1):c.7453+1G>T rs397515851
NM_000138.5(FBN1):c.7497_7498del (p.Cys2500_Val2501insTer) rs397515852
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser) rs363810
NM_000138.5(FBN1):c.7580A>C (p.Glu2527Ala) rs397515853
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.5(FBN1):c.8473_8475del (p.Gly2825del) rs727504454
NM_000138.5(FBN1):c.8483C>G (p.Ser2828Ter) rs397515864
NM_000138.5(FBN1):c.8600A>C (p.Gln2867Pro) rs397515865
NM_000138.5(FBN1):c.8605_8606del (p.Leu2869fs) rs397515866
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) rs397516840
NM_003242.6(TGFBR2):c.1524+1G>A rs727503475
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del) rs876658120
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) rs727503472
NM_005902.4(SMAD3):c.206+1G>C rs770098673

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