ClinVar Miner

List of variants reported as benign for Weill-Marchesani syndrome

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln) rs7252299 0.99986
NM_030957.4(ADAMTS10):c.1588-179G>T rs9749567 0.92646
NM_000138.5(FBN1):c.*730G>T rs13598 0.89602
NM_030957.4(ADAMTS10):c.401= (p.Ser134=) rs7255721 0.79500
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638 0.75672
NM_000138.5(FBN1):c.*2158G>A rs11070641 0.75090
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652 0.70543
NM_139057.4(ADAMTS17):c.*510C>T rs2573650 0.69021
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613 0.68304
NM_000138.5(FBN1):c.*1575T>G rs4775760 0.68134
NM_139057.4(ADAMTS17):c.1031+81A>G rs4965295 0.68113
NM_139057.4(ADAMTS17):c.873+58T>C rs4965297 0.67726
NM_000428.3(LTBP2):c.2502T>C (p.Thr834=) rs862031 0.67247
NM_139057.4(ADAMTS17):c.*46C>G rs2581340 0.65342
NM_139057.4(ADAMTS17):c.*113A>G rs2581341 0.64262
NM_139057.4(ADAMTS17):c.*316T>C rs2581345 0.64086
NM_139057.4(ADAMTS17):c.*1083A>G rs2581362 0.64072
NM_139057.4(ADAMTS17):c.*1078G>A rs2727196 0.64049
NM_139057.4(ADAMTS17):c.*399_*412dup rs71151926 0.64020
NM_139057.4(ADAMTS17):c.*544G>A rs2581348 0.64018
NM_139057.4(ADAMTS17):c.*1289T>G rs2581365 0.63990
NM_139057.4(ADAMTS17):c.*1243C>T rs2581363 0.63825
NM_000138.5(FBN1):c.*314C>T rs1042078 0.63415
NM_139057.4(ADAMTS17):c.*885A>G rs2727198 0.62345
NM_139057.4(ADAMTS17):c.*1449G>A rs2573625 0.61872
NM_139057.4(ADAMTS17):c.*1490C>T rs2727195 0.61407
NM_139057.4(ADAMTS17):c.*190G>A rs2727199 0.58955
NM_139057.4(ADAMTS17):c.*900T>C rs2581359 0.58766
NM_139057.4(ADAMTS17):c.873+62C>T rs4965296 0.57943
NM_139057.4(ADAMTS17):c.*189G>C rs2581343 0.57417
NM_139057.4(ADAMTS17):c.2950-45C>T rs11634977 0.57048
NM_139057.4(ADAMTS17):c.2949+35G>A rs7175995 0.50353
NM_139057.4(ADAMTS17):c.2796+96G>A rs12900132 0.49795
NM_139057.4(ADAMTS17):c.*2528T>C rs8037666 0.46516
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640 0.40719
NM_139057.4(ADAMTS17):c.617-41A>G rs7497712 0.40701
NM_139057.4(ADAMTS17):c.*82G>A rs3825894 0.39172
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668 0.39054
NM_139057.4(ADAMTS17):c.*2560T>C rs10468183 0.37771
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=) rs699374 0.35704
NM_000428.3(LTBP2):c.*824C>T rs7569 0.34968
NM_000428.3(LTBP2):c.1987+21G>A rs862025 0.31731
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251 0.30715
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614 0.30495
NM_000428.3(LTBP2):c.*1818C>T rs1052939 0.26277
NM_000428.3(LTBP2):c.1864+22C>A rs3742794 0.25792
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328 0.25319
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_139057.4(ADAMTS17):c.*1779T>C rs12440706 0.24902
NM_030957.4(ADAMTS10):c.2283T>C (p.Pro761=) rs4476282 0.23173
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583 0.18423
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr) rs28567966 0.15651
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=) rs61752832 0.08618
NM_139057.4(ADAMTS17):c.*2283A>G rs8025962 0.08276
NM_139057.4(ADAMTS17):c.*2701G>C rs13329612 0.07318
NM_030957.4(ADAMTS10):c.*428A>G rs116024095 0.07160
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_000428.3(LTBP2):c.-232G>A rs61980926 0.06690
NM_139057.4(ADAMTS17):c.*2541A>G rs8041971 0.06591
NM_000428.3(LTBP2):c.1287G>A (p.Leu429=) rs61738025 0.06415
NM_000428.3(LTBP2):c.956C>A (p.Pro319Gln) rs2304707 0.06364
NM_139057.4(ADAMTS17):c.*486G>A rs117381111 0.06056
NM_000138.4(FBN1):c.-388C>T rs3825792 0.06008
NM_000428.3(LTBP2):c.*1873C>G rs77847288 0.04063
NM_139057.4(ADAMTS17):c.*2007G>A rs8041901 0.04026
NM_139057.4(ADAMTS17):c.*2183G>A rs148789222 0.03651
NM_000428.3(LTBP2):c.2788+13C>T rs78258030 0.03459
NM_030957.4(ADAMTS10):c.3102G>A (p.Thr1034=) rs10405956 0.03322
NM_030957.4(ADAMTS10):c.2584G>T (p.Ala862Ser) rs10418929 0.03247
NM_000428.3(LTBP2):c.*1957A>G rs73296215 0.03184
NM_000138.5(FBN1):c.*2040T>C rs73390272 0.03120
NM_000138.5(FBN1):c.*1959G>A rs12050562 0.03119
NM_139057.4(ADAMTS17):c.*439G>A rs140255903 0.03019
NM_030957.4(ADAMTS10):c.1900+11G>C rs78421590 0.02958
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) rs62621197 0.02952
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_139057.4(ADAMTS17):c.*700G>A rs60022871 0.02686
NM_000428.3(LTBP2):c.2715C>T (p.Arg905=) rs7145480 0.02571
NM_000428.3(LTBP2):c.3093C>T (p.Ser1031=) rs45473602 0.02563
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_139057.4(ADAMTS17):c.3219C>T (p.Tyr1073=) rs78682885 0.02540
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_000428.3(LTBP2):c.4782G>A (p.Val1594=) rs2079631 0.02179
NM_000428.3(LTBP2):c.*2153T>C rs113879332 0.02134
NM_000138.5(FBN1):c.*57A>G rs363849 0.01992
NM_000428.3(LTBP2):c.4263G>A (p.Ala1421=) rs61738017 0.01972
NM_000428.3(LTBP2):c.1021+14G>A rs150408645 0.01681
NM_000428.3(LTBP2):c.3852C>T (p.Arg1284=) rs61736977 0.01652
NM_139057.4(ADAMTS17):c.*2324G>A rs8041395 0.01632
NM_000428.3(LTBP2):c.*2463G>T rs10141546 0.01598
NM_139057.4(ADAMTS17):c.*1729G>A rs58739070 0.01571
NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=) rs61752831 0.01571
NM_139057.4(ADAMTS17):c.*1774C>T rs74037056 0.01566
NM_000428.3(LTBP2):c.*2044G>A rs73296214 0.01534
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039 0.01509
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_000428.3(LTBP2):c.915G>A (p.Thr305=) rs60337900 0.01390
NM_139057.4(ADAMTS17):c.*2227G>A rs8041553 0.01381
NM_000138.5(FBN1):c.*1989C>T rs56194244 0.01330
NM_030957.4(ADAMTS10):c.*449G>C rs555471852 0.01330
NM_000138.5(FBN1):c.*1368A>G rs77212138 0.01328
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_139057.4(ADAMTS17):c.*2079C>T rs75041141 0.01313
NM_139057.4(ADAMTS17):c.*2012C>T rs190592619 0.01261
NM_030957.4(ADAMTS10):c.1350G>T (p.Gly450=) rs75734496 0.01217
NM_139057.4(ADAMTS17):c.*1944G>A rs116429760 0.01213
NM_139057.4(ADAMTS17):c.*1706G>A rs117744474 0.01078
NM_139057.4(ADAMTS17):c.*2578G>A rs183671964 0.01077
NM_139057.4(ADAMTS17):c.*2722G>A rs116467016 0.01067
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_000428.3(LTBP2):c.4888+18G>A rs73296217 0.01044
NM_139057.4(ADAMTS17):c.*989G>A rs57279107 0.01034
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=) rs34558152 0.00994
NM_139057.4(ADAMTS17):c.*743G>A rs74036641 0.00963
NM_139057.4(ADAMTS17):c.*2352C>G rs138578029 0.00953
NM_139057.4(ADAMTS17):c.*116T>C rs143850369 0.00911
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr) rs61754841 0.00851
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) rs137854857 0.00812
NM_000138.5(FBN1):c.*867G>T rs189749406 0.00798
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala) rs139932140 0.00769
NM_030957.4(ADAMTS10):c.1803T>C (p.Cys601=) rs115093676 0.00762
NM_030957.4(ADAMTS10):c.*259G>A rs74498506 0.00739
NM_139057.4(ADAMTS17):c.*1565G>C rs60803373 0.00732
NM_139057.4(ADAMTS17):c.*1992G>A rs114383018 0.00697
NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser) rs80046653 0.00659
NM_000138.5(FBN1):c.*2153A>G rs116443051 0.00654
NM_000428.3(LTBP2):c.3333G>A (p.Thr1111=) rs61729544 0.00645
NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=) rs141318496 0.00600
NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=) rs149373184 0.00592
NM_139057.4(ADAMTS17):c.2591+14T>G rs75585294 0.00566
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_139057.4(ADAMTS17):c.*2453C>T rs141023547 0.00558
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_139057.4(ADAMTS17):c.2171G>A (p.Ser724Asn) rs73474408 0.00554
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_030957.4(ADAMTS10):c.2865+11C>A rs367808475 0.00505
NM_000138.5(FBN1):c.*1580G>A rs17352989 0.00504
NM_000428.3(LTBP2):c.5187C>T (p.Phe1729=) rs149587738 0.00497
NM_000138.5(FBN1):c.*2674T>A rs142196699 0.00484
NM_030957.4(ADAMTS10):c.356G>A (p.Arg119Gln) rs3814291 0.00472
NM_000138.5(FBN1):c.*1084T>C rs3803350 0.00464
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_030957.4(ADAMTS10):c.204G>A (p.Thr68=) rs139761152 0.00397
NM_030957.4(ADAMTS10):c.*20G>A rs137928083 0.00385
NM_139057.4(ADAMTS17):c.2901C>T (p.Cys967=) rs140384823 0.00385
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=) rs375900400 0.00324
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_000138.5(FBN1):c.*2524A>G rs75372203 0.00254
NM_000428.3(LTBP2):c.208A>G (p.Ser70Gly) rs201787294 0.00237
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu) rs143106228 0.00232
NM_000138.5(FBN1):c.*1245C>T rs181099623 0.00207
NM_000428.3(LTBP2):c.2966C>G (p.Pro989Arg) rs76172717 0.00180
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000138.5(FBN1):c.-176A>T rs560004254 0.00145
NM_000428.3(LTBP2):c.4286G>A (p.Arg1429Gln) rs116914994 0.00133
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000138.5(FBN1):c.*2045G>A rs372254135 0.00106
NM_030957.4(ADAMTS10):c.1901-11G>A rs117220199 0.00106
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_139057.4(ADAMTS17):c.*671C>T rs76681073 0.00083
NM_139057.4(ADAMTS17):c.*1859C>T rs79741636 0.00080
NM_000428.3(LTBP2):c.4911C>T (p.Asn1637=) rs12586758 0.00074
NM_000138.5(FBN1):c.*779C>T rs113200355 0.00064
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_000138.5(FBN1):c.*43A>T rs144710695 0.00043
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_139057.4(ADAMTS17):c.*692G>C rs187035332 0.00036
NM_000138.5(FBN1):c.*2395G>A rs184719603 0.00035
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_139057.4(ADAMTS17):c.*425C>A rs574877864 0.00029
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000138.5(FBN1):c.*1228T>C rs372333234 0.00016
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 0.00012
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000138.5(FBN1):c.4211-10C>T rs28730793 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000138.5(FBN1):c.7820-4G>A rs750036723 0.00005
NM_000138.5(FBN1):c.*1325T>C rs569152308 0.00004
NM_000138.5(FBN1):c.1884C>T (p.Cys628=) rs150421653 0.00004
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp) rs200745301 0.00004
NM_000138.5(FBN1):c.*1484C>T rs533502309 0.00002
NM_000138.5(FBN1):c.6379+4A>G rs780370404 0.00002
NM_000138.5(FBN1):c.*764G>A rs55717426 0.00001
NM_000138.5(FBN1):c.1837+9T>C rs56102085 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr) rs371130701 0.00001
NM_139057.4(ADAMTS17):c.*1741A>T rs542106384 0.00001
NM_000138.5(FBN1):c.*1562G>T rs78442438
NM_000138.5(FBN1):c.*967C>T rs56024388
NM_000138.5(FBN1):c.3712+9G>T rs769251450
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met) rs934996
NM_030957.4(ADAMTS10):c.811-149G>A rs7248483
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1227AAGG[1] rs10549565
NM_139057.4(ADAMTS17):c.*1419G>A rs75143725
NM_139057.4(ADAMTS17):c.*1773G>T rs74037057
NM_139057.4(ADAMTS17):c.*2013T>G rs2727194
NM_139057.4(ADAMTS17):c.*2354C>T rs8036076
NM_139057.4(ADAMTS17):c.*429A>C rs2581346
NM_139057.4(ADAMTS17):c.*498A>C rs2573651
NM_139057.4(ADAMTS17):c.*567G>A rs2573649
NM_139057.4(ADAMTS17):c.*567G>C rs2573649
NM_139057.4(ADAMTS17):c.*882G>C rs2581358
NM_139057.4(ADAMTS17):c.*99A>G rs58960452
NM_139057.4(ADAMTS17):c.-19del rs150933882
NM_139057.4(ADAMTS17):c.-20G>T rs569251254
NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) rs72755233
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_139057.4(ADAMTS17):c.2518G>A (p.Asp840Asn) rs147316982
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=) rs112214202

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