ClinVar Miner

List of variants reported as likely benign for Weill-Marchesani syndrome

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 138
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030957.4(ADAMTS10):c.2423T>G (p.Leu808Arg) rs10420313 0.02947
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_030957.4(ADAMTS10):c.-198A>G rs4530289 0.01712
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_139057.4(ADAMTS17):c.*474C>T rs117821788 0.01156
NM_000428.3(LTBP2):c.*2684A>G rs74384554 0.01012
NM_030957.4(ADAMTS10):c.*171G>A rs79238375 0.00991
NM_139057.4(ADAMTS17):c.*1946G>T rs77749500 0.00956
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_139057.4(ADAMTS17):c.*420G>A rs556966662 0.00622
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00608
NM_139057.4(ADAMTS17):c.*1234G>A rs543905312 0.00574
NM_000428.3(LTBP2):c.378C>T (p.Pro126=) rs140842900 0.00528
NM_000428.3(LTBP2):c.*119C>T rs146119949 0.00526
NM_139057.4(ADAMTS17):c.*880C>T rs187416809 0.00515
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=) rs61738013 0.00500
NM_000428.3(LTBP2):c.1399+10G>T rs143528294 0.00488
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=) rs150468696 0.00463
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223 0.00436
NM_030957.4(ADAMTS10):c.2016C>T (p.Cys672=) rs10414102 0.00419
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys) rs61750006 0.00419
NM_139057.4(ADAMTS17):c.*1315C>T rs185582795 0.00381
NM_000428.3(LTBP2):c.3527-3C>A rs138194436 0.00364
NM_000138.5(FBN1):c.*1298C>G rs143446014 0.00360
NM_139057.4(ADAMTS17):c.*1244C>G rs561561821 0.00329
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=) rs117133620 0.00307
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=) rs150977380 0.00305
NM_000428.3(LTBP2):c.450G>T (p.Arg150=) rs111342797 0.00290
NM_139057.4(ADAMTS17):c.*1546G>A rs149694490 0.00273
NM_139057.4(ADAMTS17):c.3128-12C>T rs182634994 0.00220
NM_030957.4(ADAMTS10):c.2154G>A (p.Gly718=) rs112185875 0.00213
NM_000428.3(LTBP2):c.*2363A>G rs190461277 0.00211
NM_030957.4(ADAMTS10):c.2261C>T (p.Ser754Phe) rs142353301 0.00203
NM_139057.4(ADAMTS17):c.*1653C>G rs536677830 0.00181
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=) rs148939974 0.00176
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=) rs80088294 0.00165
NM_000138.5(FBN1):c.2420-8T>C rs140582 0.00163
NM_139057.4(ADAMTS17):c.*2313T>C rs562633764 0.00161
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=) rs199789628 0.00148
NM_030957.4(ADAMTS10):c.1588-11C>T rs112970413 0.00142
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys) rs143456909 0.00121
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_139057.4(ADAMTS17):c.*960G>A rs180868548 0.00101
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_139057.4(ADAMTS17):c.-9C>T rs192272127 0.00067
NM_139057.4(ADAMTS17):c.*2747T>G rs183457005 0.00066
NM_030957.4(ADAMTS10):c.1798-6C>T rs186791828 0.00064
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241 0.00054
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_000428.3(LTBP2):c.1686+3G>A rs190814774 0.00049
NM_000428.3(LTBP2):c.*945T>C rs374130664 0.00042
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00033
NM_000138.5(FBN1):c.5788+10C>A rs371560107 0.00032
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000138.5(FBN1):c.*2360C>G rs144404153 0.00024
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_000428.3(LTBP2):c.*1427A>G rs187052141 0.00024
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000428.3(LTBP2):c.2160C>T (p.Phe720=) rs74758312 0.00023
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_139057.4(ADAMTS17):c.*959C>T rs141144986 0.00019
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala) rs202099735 0.00016
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_030957.4(ADAMTS10):c.1367G>A (p.Arg456Gln) rs199769798 0.00012
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000138.5(FBN1):c.3337+11G>A rs368726848 0.00009
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=) rs532737688 0.00009
NM_030957.4(ADAMTS10):c.1994G>A (p.Arg665His) rs370179236 0.00009
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=) rs144400069 0.00008
NM_030957.4(ADAMTS10):c.68C>T (p.Thr23Met) rs376131325 0.00008
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_139057.4(ADAMTS17):c.3128-6C>T rs148559983 0.00006
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000138.5(FBN1):c.346+16C>T rs369090026 0.00005
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu) rs201586136 0.00004
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00003
NM_000138.5(FBN1):c.885T>G (p.Ile295Met) rs151056963 0.00003
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly) rs886050980 0.00003
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile) rs747713929 0.00002
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=) rs750331217 0.00002
NM_000138.5(FBN1):c.8227-10G>A rs765093559 0.00002
NM_139057.4(ADAMTS17):c.1873G>T (p.Ala625Ser) rs756053197 0.00002
NM_000138.5(FBN1):c.*1437G>A rs549498511 0.00001
NM_000138.5(FBN1):c.164+12G>A rs571164659 0.00001
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=) rs397515813 0.00001
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=) rs140629 0.00001
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=) rs373887214 0.00001
NM_000138.5(FBN1):c.639C>T (p.Val213=) rs543984363 0.00001
NM_000138.5(FBN1):c.8227-3C>T rs200822151 0.00001
NM_000138.5(FBN1):c.*1950dup rs535798341
NM_000138.5(FBN1):c.*960del rs527621676
NM_000138.5(FBN1):c.-35C>T rs199781948
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys) rs773614956
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=) rs1597545860
NM_000138.5(FBN1):c.5066-12C>T rs531105331
NM_000138.5(FBN1):c.523C>T (p.Pro175Ser) rs891185586
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.7236T>C (p.Val2412=) rs1306021418
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup rs138501563
NM_030957.4(ADAMTS10):c.*238dup rs151216219
NM_030957.4(ADAMTS10):c.2421G>T (p.Glu807Asp) rs545953920
NM_030957.4(ADAMTS10):c.2707G>C (p.Gly903Arg)
NM_030957.4(ADAMTS10):c.373G>A (p.Ala125Thr) rs782138140
NM_139057.4(ADAMTS17):c.*172_*174del rs137961566
NM_139057.4(ADAMTS17):c.*19G>A rs201992797
NM_139057.4(ADAMTS17):c.*2157AG[1] rs144918924
NM_139057.4(ADAMTS17):c.*2228G>C rs541793251
NM_139057.4(ADAMTS17):c.*2354C>G rs8036076
NM_139057.4(ADAMTS17):c.*2605G>C rs191759654
NM_139057.4(ADAMTS17):c.*2637C>G rs529849561
NM_139057.4(ADAMTS17):c.*882G>T rs2581358
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=) rs559102316
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser) rs770794109

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.