ClinVar Miner

List of variants reported as benign for Weill-Marchesani syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 220
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.*1084T>C rs3803350
NM_000138.4(FBN1):c.*1228T>C rs372333234
NM_000138.4(FBN1):c.*1245C>T rs181099623
NM_000138.4(FBN1):c.*1325T>C rs569152308
NM_000138.4(FBN1):c.*1368A>G rs77212138
NM_000138.4(FBN1):c.*1484C>T rs533502309
NM_000138.4(FBN1):c.*1562G>T rs78442438
NM_000138.4(FBN1):c.*1575T>G rs4775760
NM_000138.4(FBN1):c.*1580G>A rs17352989
NM_000138.4(FBN1):c.*1959G>A rs12050562
NM_000138.4(FBN1):c.*1989C>T rs56194244
NM_000138.4(FBN1):c.*2040T>C rs73390272
NM_000138.4(FBN1):c.*2153A>G rs116443051
NM_000138.4(FBN1):c.*2158G>A rs11070641
NM_000138.4(FBN1):c.*2395G>A rs184719603
NM_000138.4(FBN1):c.*2524A>G rs75372203
NM_000138.4(FBN1):c.*2674T>A rs142196699
NM_000138.4(FBN1):c.*314C>T rs1042078
NM_000138.4(FBN1):c.*57A>G rs363849
NM_000138.4(FBN1):c.*730G>T rs13598
NM_000138.4(FBN1):c.*764G>A rs55717426
NM_000138.4(FBN1):c.*867G>T rs189749406
NM_000138.4(FBN1):c.*967C>T rs56024388
NM_000138.4(FBN1):c.-176A>T rs560004254
NM_000138.4(FBN1):c.-388C>T rs3825792
NM_000138.4(FBN1):c.1371C>G (p.Arg457=) rs25436
NM_000138.4(FBN1):c.1837+9T>C rs56102085
NM_000138.4(FBN1):c.1884C>T (p.Cys628=) rs150421653
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640
NM_000138.4(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067
NM_000138.4(FBN1):c.3896C>T (p.Thr1299Met) rs774851476
NM_000138.4(FBN1):c.396T>C (p.Asp132=) rs147481356
NM_000138.4(FBN1):c.4211-10C>T rs28730793
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.5066-21dup rs3833018
NM_000138.4(FBN1):c.5296+14G>A rs140650
NM_000138.4(FBN1):c.538+4A>G rs375721252
NM_000138.4(FBN1):c.6576C>T (p.Cys2192=) rs369058466
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000138.4(FBN1):c.7820-4G>A rs750036723
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.7846A>G (p.Ile2616Val) rs143677764
NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.4(FBN1):c.8310C>T (p.His2770=) rs112189340
NM_000138.5(FBN1):c.*2045G>A
NM_000138.5(FBN1):c.*43A>T
NM_000138.5(FBN1):c.*779C>T
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.5(FBN1):c.2855-9C>T rs140590
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.5(FBN1):c.3082+6A>G rs79321504
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598
NM_000138.5(FBN1):c.3463+3A>G rs80344206
NM_000138.5(FBN1):c.3464-5G>A rs11853943
NM_000138.5(FBN1):c.3712+9G>T
NM_000138.5(FBN1):c.3965-8T>C rs140637
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.5(FBN1):c.6379+4A>G
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442
NM_000138.5(FBN1):c.7819+8A>C rs363838
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)
NM_000428.3(LTBP2):c.*1818C>T rs1052939
NM_000428.3(LTBP2):c.*1873C>G
NM_000428.3(LTBP2):c.*1957A>G rs73296215
NM_000428.3(LTBP2):c.*2044G>A
NM_000428.3(LTBP2):c.*2153T>C
NM_000428.3(LTBP2):c.*2463G>T
NM_000428.3(LTBP2):c.*824C>T rs7569
NM_000428.3(LTBP2):c.-232G>A rs61980926
NM_000428.3(LTBP2):c.1021+14G>A rs150408645
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met) rs934996
NM_000428.3(LTBP2):c.1287G>A (p.Leu429=) rs61738025
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) rs137854857
NM_000428.3(LTBP2):c.208A>G (p.Ser70Gly) rs201787294
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=) rs699374
NM_000428.3(LTBP2):c.2715C>T (p.Arg905=)
NM_000428.3(LTBP2):c.2788+13C>T rs78258030
NM_000428.3(LTBP2):c.2966C>G (p.Pro989Arg) rs76172717
NM_000428.3(LTBP2):c.3093C>T (p.Ser1031=)
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039
NM_000428.3(LTBP2):c.3333G>A (p.Thr1111=) rs61729544
NM_000428.3(LTBP2):c.3852C>T (p.Arg1284=) rs61736977
NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=) rs141318496
NM_000428.3(LTBP2):c.4263G>A (p.Ala1421=) rs61738017
NM_000428.3(LTBP2):c.4286G>A (p.Arg1429Gln) rs116914994
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala) rs139932140
NM_000428.3(LTBP2):c.4782G>A (p.Val1594=) rs2079631
NM_000428.3(LTBP2):c.4911C>T (p.Asn1637=) rs12586758
NM_000428.3(LTBP2):c.5187C>T (p.Phe1729=) rs149587738
NM_000428.3(LTBP2):c.915G>A (p.Thr305=) rs60337900
NM_000428.3(LTBP2):c.956C>A (p.Pro319Gln) rs2304707
NM_030957.4(ADAMTS10):c.*20G>A
NM_030957.4(ADAMTS10):c.*259G>A
NM_030957.4(ADAMTS10):c.*428A>G rs116024095
NM_030957.4(ADAMTS10):c.*449G>C rs555471852
NM_030957.4(ADAMTS10):c.1350G>T (p.Gly450=) rs75734496
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422
NM_030957.4(ADAMTS10):c.1803T>C (p.Cys601=) rs115093676
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) rs62621197
NM_030957.4(ADAMTS10):c.1900+11G>C rs78421590
NM_030957.4(ADAMTS10):c.1901-11G>A rs117220199
NM_030957.4(ADAMTS10):c.204G>A (p.Thr68=) rs139761152
NM_030957.4(ADAMTS10):c.2283T>C (p.Pro761=) rs4476282
NM_030957.4(ADAMTS10):c.2584G>T (p.Ala862Ser) rs10418929
NM_030957.4(ADAMTS10):c.2865+11C>A
NM_030957.4(ADAMTS10):c.3102G>A (p.Thr1034=) rs10405956
NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser) rs80046653
NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln) rs7252299
NM_030957.4(ADAMTS10):c.356G>A (p.Arg119Gln) rs3814291
NM_030957.4(ADAMTS10):c.401= (p.Ser134=) rs7255721
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1078G>A rs2727196
NM_139057.4(ADAMTS17):c.*1083A>G rs2581362
NM_139057.4(ADAMTS17):c.*113A>G rs2581341
NM_139057.4(ADAMTS17):c.*116T>C rs143850369
NM_139057.4(ADAMTS17):c.*1227_*1230AAGG[1] rs10549565
NM_139057.4(ADAMTS17):c.*1243C>T rs2581363
NM_139057.4(ADAMTS17):c.*1289T>G rs2581365
NM_139057.4(ADAMTS17):c.*1419G>A rs75143725
NM_139057.4(ADAMTS17):c.*1449G>A rs2573625
NM_139057.4(ADAMTS17):c.*1490C>T rs2727195
NM_139057.4(ADAMTS17):c.*1565G>C
NM_139057.4(ADAMTS17):c.*1706G>A rs117744474
NM_139057.4(ADAMTS17):c.*1729G>A rs58739070
NM_139057.4(ADAMTS17):c.*1741A>T rs542106384
NM_139057.4(ADAMTS17):c.*1773G>T rs74037057
NM_139057.4(ADAMTS17):c.*1774C>T rs74037056
NM_139057.4(ADAMTS17):c.*1779T>C rs12440706
NM_139057.4(ADAMTS17):c.*1859C>T
NM_139057.4(ADAMTS17):c.*189G>C rs2581343
NM_139057.4(ADAMTS17):c.*190G>A rs2727199
NM_139057.4(ADAMTS17):c.*1944G>A rs116429760
NM_139057.4(ADAMTS17):c.*1992G>A rs114383018
NM_139057.4(ADAMTS17):c.*2007G>A rs8041901
NM_139057.4(ADAMTS17):c.*2012C>T rs190592619
NM_139057.4(ADAMTS17):c.*2013T>G rs2727194
NM_139057.4(ADAMTS17):c.*2079C>T rs75041141
NM_139057.4(ADAMTS17):c.*2183G>A rs148789222
NM_139057.4(ADAMTS17):c.*2227G>A rs8041553
NM_139057.4(ADAMTS17):c.*2283A>G rs8025962
NM_139057.4(ADAMTS17):c.*2324G>A rs8041395
NM_139057.4(ADAMTS17):c.*2352C>G rs138578029
NM_139057.4(ADAMTS17):c.*2354C>T rs8036076
NM_139057.4(ADAMTS17):c.*2453C>T
NM_139057.4(ADAMTS17):c.*2528T>C rs8037666
NM_139057.4(ADAMTS17):c.*2541A>G rs8041971
NM_139057.4(ADAMTS17):c.*2560T>C rs10468183
NM_139057.4(ADAMTS17):c.*2578G>A rs183671964
NM_139057.4(ADAMTS17):c.*2701G>C rs13329612
NM_139057.4(ADAMTS17):c.*2722G>A rs116467016
NM_139057.4(ADAMTS17):c.*316T>C rs2581345
NM_139057.4(ADAMTS17):c.*399_*412dup rs71151926
NM_139057.4(ADAMTS17):c.*425C>A rs574877864
NM_139057.4(ADAMTS17):c.*429A>C rs2581346
NM_139057.4(ADAMTS17):c.*439G>A rs140255903
NM_139057.4(ADAMTS17):c.*46C>G rs2581340
NM_139057.4(ADAMTS17):c.*486G>A rs117381111
NM_139057.4(ADAMTS17):c.*498A>C rs2573651
NM_139057.4(ADAMTS17):c.*510C>T rs2573650
NM_139057.4(ADAMTS17):c.*544G>A rs2581348
NM_139057.4(ADAMTS17):c.*567G>A
NM_139057.4(ADAMTS17):c.*567G>C rs2573649
NM_139057.4(ADAMTS17):c.*671C>T rs76681073
NM_139057.4(ADAMTS17):c.*692G>C rs187035332
NM_139057.4(ADAMTS17):c.*700G>A rs60022871
NM_139057.4(ADAMTS17):c.*743G>A rs74036641
NM_139057.4(ADAMTS17):c.*82G>A rs3825894
NM_139057.4(ADAMTS17):c.*882G>C rs2581358
NM_139057.4(ADAMTS17):c.*885A>G rs2727198
NM_139057.4(ADAMTS17):c.*900T>C rs2581359
NM_139057.4(ADAMTS17):c.*989G>A rs57279107
NM_139057.4(ADAMTS17):c.*99A>G
NM_139057.4(ADAMTS17):c.-19del rs150933882
NM_139057.4(ADAMTS17):c.-20G>T
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638
NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) rs72755233
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr) rs28567966
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr) rs61754841
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp) rs200745301
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=) rs34558152
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=) rs61752832
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328
NM_139057.4(ADAMTS17):c.2171G>A (p.Ser724Asn) rs73474408
NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=) rs61752831
NM_139057.4(ADAMTS17):c.2518G>A (p.Asp840Asn)
NM_139057.4(ADAMTS17):c.2591+14T>G
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251
NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=) rs149373184
NM_139057.4(ADAMTS17):c.2901C>T (p.Cys967=) rs140384823
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=) rs112214202
NM_139057.4(ADAMTS17):c.3219C>T (p.Tyr1073=) rs78682885
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=) rs375900400
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614

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