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: 129
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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.*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_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_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_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.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_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

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