ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 395
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HGVS dbSNP
NM_000089.3(COL1A2):c.*605A>G rs537557756
NM_000089.3(COL1A2):c.*618T>C rs557107553
NM_000089.3(COL1A2):c.-188C>T rs886062512
NM_000089.3(COL1A2):c.-365A>G rs886062511
NM_000089.3(COL1A2):c.-428G>A rs753974789
NM_000089.3(COL1A2):c.-87C>T rs886062513
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.1036-14G>T rs114322680
NM_000089.3(COL1A2):c.1051G>A (p.Ala351Thr) rs755610740
NM_000089.3(COL1A2):c.1186C>T (p.Pro396Ser) rs886062515
NM_000089.3(COL1A2):c.1252-6del rs886062516
NM_000089.3(COL1A2):c.1564C>T (p.Pro522Ser) rs199732595
NM_000089.3(COL1A2):c.1866T>C (p.Gly622=) rs765470622
NM_000089.3(COL1A2):c.1870C>G (p.Pro624Ala) rs886062517
NM_000089.3(COL1A2):c.1971+5G>A rs375027186
NM_000089.3(COL1A2):c.2025+9A>G rs368837694
NM_000089.3(COL1A2):c.2456G>A (p.Arg819His) rs773985005
NM_000089.3(COL1A2):c.2563G>A (p.Ala855Thr) rs541473356
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
NM_000089.3(COL1A2):c.279+12T>C rs751199493
NM_000089.3(COL1A2):c.3014G>A (p.Arg1005His) rs200357942
NM_000089.3(COL1A2):c.3211C>A (p.Pro1071Thr) rs886062518
NM_000089.3(COL1A2):c.3754A>G (p.Thr1252Ala) rs761465504
NM_000089.3(COL1A2):c.3809A>G (p.Tyr1270Cys) rs886062519
NM_000089.3(COL1A2):c.3883T>C (p.Ser1295Pro) rs757449082
NM_000089.3(COL1A2):c.475G>A (p.Val159Ile) rs886062514
NM_000089.3(COL1A2):c.693+12C>A rs767990110
NM_000089.3(COL1A2):c.71C>G (p.Ser24Cys) rs763546006
NM_000089.3(COL1A2):c.81+8A>C rs765118884
NM_000089.3(COL1A2):c.892-13C>G rs200532328
NM_000090.3(COL3A1):c.*113C>T rs886055336
NM_000090.3(COL3A1):c.*317C>A rs886055337
NM_000090.3(COL3A1):c.*325C>A rs886055338
NM_000090.3(COL3A1):c.*370A>G rs886055339
NM_000090.3(COL3A1):c.*371G>T rs886055340
NM_000090.3(COL3A1):c.*406A>G rs770571552
NM_000090.3(COL3A1):c.*467T>A rs886055341
NM_000090.3(COL3A1):c.*625C>T rs886055342
NM_000090.3(COL3A1):c.*692G>A rs886055343
NM_000090.3(COL3A1):c.*818T>C rs886055344
NM_000090.3(COL3A1):c.*89G>A rs886055335
NM_000090.3(COL3A1):c.*947C>T rs886055345
NM_000090.3(COL3A1):c.-101G>A rs41265577
NM_000090.3(COL3A1):c.1348-4del rs758567906
NM_000090.3(COL3A1):c.1348-4dup rs758567906
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.2065G>T (p.Ala689Ser) rs886055331
NM_000090.3(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.3(COL3A1):c.2714C>T (p.Pro905Leu) rs886055333
NM_000090.3(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.284C>T (p.Pro95Leu) rs780260944
NM_000090.3(COL3A1):c.333+15T>C rs764678861
NM_000090.3(COL3A1):c.3390C>T (p.Ile1130=) rs148918486
NM_000090.3(COL3A1):c.3576C>T (p.Ala1192=) rs574331101
NM_000090.3(COL3A1):c.3998A>G (p.Asp1333Gly) rs376651720
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4142A>G (p.Gln1381Arg) rs886055334
NM_000090.3(COL3A1):c.529-5T>G rs886055329
NM_000090.3(COL3A1):c.583-7T>C rs886055330
NM_000302.3(PLOD1):c.-64C>G rs886045195
NM_000302.3(PLOD1):c.-77G>A rs144465849
NM_000302.4(PLOD1):c.*117A>G rs886045210
NM_000302.4(PLOD1):c.*148C>G rs886045211
NM_000302.4(PLOD1):c.*276T>C rs886045212
NM_000302.4(PLOD1):c.*308C>G rs886045213
NM_000302.4(PLOD1):c.*419C>T rs886045214
NM_000302.4(PLOD1):c.*528G>A rs886045215
NM_000302.4(PLOD1):c.*61T>C rs886045209
NM_000302.4(PLOD1):c.*721T>G rs142707437
NM_000302.4(PLOD1):c.-39G>T rs769995450
NM_000302.4(PLOD1):c.-58G>A rs552712043
NM_000302.4(PLOD1):c.-61C>T rs566803699
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His) rs199567720
NM_000302.4(PLOD1):c.1388G>A (p.Arg463Gln) rs750100311
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg) rs886045204
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=) rs565216977
NM_000302.4(PLOD1):c.169-11T>C rs760584840
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu) rs775321665
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) rs372579008
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys) rs146092290
NM_000302.4(PLOD1):c.1902+9G>T rs200395169
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys) rs576416937
NM_000302.4(PLOD1):c.1930del (p.Arg644fs) rs1557501741
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln) rs886045208
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu) rs557317492
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=) rs140513387
NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp) rs886045200
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser) rs772861343
NM_000302.4(PLOD1):c.556A>G (p.Ile186Val) rs886045201
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.579+10A>G rs538255620
NM_000302.4(PLOD1):c.614G>A (p.Arg205His) rs536503346
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter) rs1557490038
NM_000302.4(PLOD1):c.742-6C>T rs569632202
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113
NM_000302.4(PLOD1):c.844-6G>T rs767068264
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala) rs777178486
NM_000302.4(PLOD1):c.975+13C>T rs79345327
NM_000393.5(COL5A2):c.3363+2T>C rs1559076442
NM_001127464.2(ZNF469):c.2914_2919delGGCGGC (p.Gly972_Gly973del) rs775423936
NM_001127464.2(ZNF469):c.2951_2953delACG (p.Asp984del) rs886052397
NM_001127464.2(ZNF469):c.4448_4450delTGC (p.Leu1483del) rs555544144
NM_001367624.1(ZNF469):c.*1071A>T rs536887736
NM_001367624.1(ZNF469):c.*1323G>A rs780254370
NM_001367624.1(ZNF469):c.*1348G>A rs886052428
NM_001367624.1(ZNF469):c.*216G>A rs146964491
NM_001367624.1(ZNF469):c.*218G>A rs137889724
NM_001367624.1(ZNF469):c.*264A>G rs193210256
NM_001367624.1(ZNF469):c.*285C>T rs35994806
NM_001367624.1(ZNF469):c.*420G>A rs45532839
NM_001367624.1(ZNF469):c.*421G>T rs148260049
NM_001367624.1(ZNF469):c.*491T>C rs557906701
NM_001367624.1(ZNF469):c.*492G>A rs190108769
NM_001367624.1(ZNF469):c.*499A>G rs537339757
NM_001367624.1(ZNF469):c.*518G>A rs563015267
NM_001367624.1(ZNF469):c.*547G>T rs370886541
NM_001367624.1(ZNF469):c.*599C>G rs146233624
NM_001367624.1(ZNF469):c.*617C>T rs886052422
NM_001367624.1(ZNF469):c.*634C>A rs74032868
NM_001367624.1(ZNF469):c.*649C>G rs561472955
NM_001367624.1(ZNF469):c.*664C>T rs886052423
NM_001367624.1(ZNF469):c.*665G>A rs75706884
NM_001367624.1(ZNF469):c.*792A>G rs886052424
NM_001367624.1(ZNF469):c.*879T>C rs886052426
NM_001367624.1(ZNF469):c.*932A>G rs886052427
NM_001367624.1(ZNF469):c.1020C>T (p.Gly340=) rs273585633
NM_001367624.1(ZNF469):c.10325G>T (p.Arg3442Met) rs199528724
NM_001367624.1(ZNF469):c.10326G>C (p.Arg3442Ser) rs56236932
NM_001367624.1(ZNF469):c.10330G>C (p.Gly3444Arg) rs569602115
NM_001367624.1(ZNF469):c.10331G>T (p.Gly3444Val) rs530393871
NM_001367624.1(ZNF469):c.1048G>A (p.Asp350Asn) rs568820656
NM_001367624.1(ZNF469):c.10572C>T (p.Pro3524=) rs763317477
NM_001367624.1(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834
NM_001367624.1(ZNF469):c.10740C>T (p.Asn3580=) rs527707590
NM_001367624.1(ZNF469):c.11052G>A (p.Ser3684=) rs780722176
NM_001367624.1(ZNF469):c.11107G>A (p.Val3703Met) rs151127652
NM_001367624.1(ZNF469):c.11109G>T (p.Val3703=) rs886052419
NM_001367624.1(ZNF469):c.11203A>G (p.Ser3735Gly) rs536054902
NM_001367624.1(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513
NM_001367624.1(ZNF469):c.11536C>G (p.Arg3846Gly) rs886052420
NM_001367624.1(ZNF469):c.11546G>A (p.Arg3849Gln) rs775672255
NM_001367624.1(ZNF469):c.11566C>T (p.Arg3856Cys) rs762894872
NM_001367624.1(ZNF469):c.11658G>C (p.Gln3886His) rs182269913
NM_001367624.1(ZNF469):c.11809G>A (p.Gly3937Arg) rs886052421
NM_001367624.1(ZNF469):c.11822C>T (p.Thr3941Ile) rs766057875
NM_001367624.1(ZNF469):c.139G>A (p.Gly47Ser) rs138954293
NM_001367624.1(ZNF469):c.142G>A (p.Ala48Thr) rs886052388
NM_001367624.1(ZNF469):c.1528G>A (p.Gly510Ser) rs755555951
NM_001367624.1(ZNF469):c.1547G>C (p.Gly516Ala) rs753160761
NM_001367624.1(ZNF469):c.1584G>A (p.Pro528=) rs143852982
NM_001367624.1(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639
NM_001367624.1(ZNF469):c.1663G>A (p.Asp555Asn) rs749179728
NM_001367624.1(ZNF469):c.1719C>T (p.His573=) rs552893295
NM_001367624.1(ZNF469):c.1827G>A (p.Ser609=) rs148616993
NM_001367624.1(ZNF469):c.1875C>A (p.Leu625=) rs886052392
NM_001367624.1(ZNF469):c.1882C>A (p.Pro628Thr) rs886052393
NM_001367624.1(ZNF469):c.1896G>A (p.Ser632=) rs554795578
NM_001367624.1(ZNF469):c.1932G>C (p.Thr644=) rs539996728
NM_001367624.1(ZNF469):c.1982A>G (p.Tyr661Cys) rs886052394
NM_001367624.1(ZNF469):c.2085C>T (p.Pro695=) rs74547407
NM_001367624.1(ZNF469):c.2132C>G (p.Pro711Arg) rs571184307
NM_001367624.1(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726
NM_001367624.1(ZNF469):c.2361C>G (p.His787Gln) rs886052395
NM_001367624.1(ZNF469):c.2652C>G (p.Pro884=) rs767431034
NM_001367624.1(ZNF469):c.2693C>T (p.Pro898Leu) rs754458926
NM_001367624.1(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618
NM_001367624.1(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481
NM_001367624.1(ZNF469):c.2810A>T (p.Asp937Val) rs550198026
NM_001367624.1(ZNF469):c.2873T>C (p.Leu958Pro) rs370402083
NM_001367624.1(ZNF469):c.2929G>C (p.Gly977Arg) rs770061832
NM_001367624.1(ZNF469):c.2931C>T (p.Gly977=) rs539527724
NM_001367624.1(ZNF469):c.2952C>T (p.Asp984=) rs886052398
NM_001367624.1(ZNF469):c.2953G>A (p.Gly985Ser) rs886052399
NM_001367624.1(ZNF469):c.2986C>A (p.Arg996Ser) rs886052400
NM_001367624.1(ZNF469):c.3183C>T (p.Arg1061=) rs756703220
NM_001367624.1(ZNF469):c.3255G>C (p.Glu1085Asp) rs886052401
NM_001367624.1(ZNF469):c.3321G>A (p.Arg1107=) rs763826959
NM_001367624.1(ZNF469):c.3326C>T (p.Pro1109Leu) rs562264117
NM_001367624.1(ZNF469):c.3472C>T (p.Pro1158Ser) rs184894059
NM_001367624.1(ZNF469):c.3485G>T (p.Arg1162Leu) rs886052402
NM_001367624.1(ZNF469):c.3506C>T (p.Pro1169Leu) rs769853271
NM_001367624.1(ZNF469):c.3565C>A (p.Pro1189Thr) rs766878740
NM_001367624.1(ZNF469):c.376A>G (p.Ser126Gly) rs886052389
NM_001367624.1(ZNF469):c.3776G>A (p.Ser1259Asn) rs886052403
NM_001367624.1(ZNF469):c.3918G>A (p.Gly1306=) rs768501538
NM_001367624.1(ZNF469):c.3931C>T (p.Pro1311Ser) rs187453092
NM_001367624.1(ZNF469):c.3950A>G (p.Lys1317Arg) rs772817384
NM_001367624.1(ZNF469):c.402C>T (p.Asp134=) rs569036398
NM_001367624.1(ZNF469):c.4195C>T (p.His1399Tyr) rs886052404
NM_001367624.1(ZNF469):c.4198C>A (p.Pro1400Thr) rs145158875
NM_001367624.1(ZNF469):c.4216G>T (p.Asp1406Tyr) rs557997233
NM_001367624.1(ZNF469):c.4227G>A (p.Pro1409=) rs371897217
NM_001367624.1(ZNF469):c.4376T>G (p.Leu1459Arg) rs559625962
NM_001367624.1(ZNF469):c.4456G>A (p.Asp1486Asn) rs373777402
NM_001367624.1(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076
NM_001367624.1(ZNF469):c.4479G>A (p.Pro1493=) rs373162171
NM_001367624.1(ZNF469):c.4574G>C (p.Ser1525Thr) rs545662898
NM_001367624.1(ZNF469):c.470G>A (p.Gly157Glu) rs781096189
NM_001367624.1(ZNF469):c.4778C>T (p.Ser1593Leu) rs768864900
NM_001367624.1(ZNF469):c.4849C>T (p.Pro1617Ser) rs557351664
NM_001367624.1(ZNF469):c.4892G>A (p.Gly1631Glu) rs755244502
NM_001367624.1(ZNF469):c.4907A>G (p.His1636Arg) rs557636016
NM_001367624.1(ZNF469):c.4909C>T (p.Arg1637Trp) rs575820215
NM_001367624.1(ZNF469):c.5010C>A (p.Ala1670=) rs766852564
NM_001367624.1(ZNF469):c.5145G>A (p.Arg1715=) rs577775261
NM_001367624.1(ZNF469):c.5150C>G (p.Pro1717Arg) rs544832628
NM_001367624.1(ZNF469):c.5162G>T (p.Cys1721Phe) rs568197988
NM_001367624.1(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.1(ZNF469):c.5488G>T (p.Ala1830Ser) rs778548266
NM_001367624.1(ZNF469):c.5548C>A (p.Pro1850Thr) rs199932922
NM_001367624.1(ZNF469):c.5577G>A (p.Pro1859=) rs764487066
NM_001367624.1(ZNF469):c.5707C>T (p.Arg1903Cys) rs757657013
NM_001367624.1(ZNF469):c.5856T>C (p.Cys1952=) rs186652137
NM_001367624.1(ZNF469):c.5862C>G (p.Pro1954=) rs201666199
NM_001367624.1(ZNF469):c.5912C>T (p.Ala1971Val) rs886052406
NM_001367624.1(ZNF469):c.6029G>A (p.Gly2010Glu) rs886052407
NM_001367624.1(ZNF469):c.6075G>A (p.Ala2025=) rs373300146
NM_001367624.1(ZNF469):c.609C>A (p.Pro203=) rs886052390
NM_001367624.1(ZNF469):c.6259G>A (p.Ala2087Thr) rs144986357
NM_001367624.1(ZNF469):c.627G>T (p.Gly209=) rs113227277
NM_001367624.1(ZNF469):c.6388C>G (p.Leu2130Val) rs562559927
NM_001367624.1(ZNF469):c.6480C>T (p.Pro2160=) rs370190101
NM_001367624.1(ZNF469):c.6665T>C (p.Leu2222Pro) rs78213929
NM_001367624.1(ZNF469):c.6846C>T (p.Ala2282=) rs748097865
NM_001367624.1(ZNF469):c.699C>T (p.Asp233=) rs886052391
NM_001367624.1(ZNF469):c.7062G>A (p.Thr2354=) rs866760637
NM_001367624.1(ZNF469):c.7079C>T (p.Pro2360Leu) rs76389306
NM_001367624.1(ZNF469):c.7111G>A (p.Gly2371Arg) rs886052408
NM_001367624.1(ZNF469):c.7116C>G (p.Thr2372=) rs762487170
NM_001367624.1(ZNF469):c.7159C>T (p.Arg2387Cys) rs886052409
NM_001367624.1(ZNF469):c.7195C>T (p.Pro2399Ser) rs759032227
NM_001367624.1(ZNF469):c.725G>T (p.Ser242Ile) rs536586591
NM_001367624.1(ZNF469):c.7265C>A (p.Ser2422Tyr) rs201540905
NM_001367624.1(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372
NM_001367624.1(ZNF469):c.7497G>A (p.Pro2499=) rs768288160
NM_001367624.1(ZNF469):c.7514C>T (p.Pro2505Leu) rs552311966
NM_001367624.1(ZNF469):c.7553C>A (p.Pro2518His) rs201943633
NM_001367624.1(ZNF469):c.7716G>A (p.Gln2572=) rs775513309
NM_001367624.1(ZNF469):c.7720C>T (p.His2574Tyr) rs886052410
NM_001367624.1(ZNF469):c.7817A>C (p.Gln2606Pro) rs529250336
NM_001367624.1(ZNF469):c.8003T>C (p.Met2668Thr) rs886052411
NM_001367624.1(ZNF469):c.8067G>A (p.Gly2689=) rs116213189
NM_001367624.1(ZNF469):c.8080C>T (p.Arg2694Cys) rs540443650
NM_001367624.1(ZNF469):c.8112G>C (p.Glu2704Asp) rs773262065
NM_001367624.1(ZNF469):c.81G>A (p.Pro27=) rs534464702
NM_001367624.1(ZNF469):c.8344C>T (p.His2782Tyr) rs553227769
NM_001367624.1(ZNF469):c.8387C>G (p.Pro2796Arg) rs886052412
NM_001367624.1(ZNF469):c.8430G>A (p.Ala2810=) rs574024256
NM_001367624.1(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921
NM_001367624.1(ZNF469):c.8625G>A (p.Pro2875=) rs138771545
NM_001367624.1(ZNF469):c.8642G>A (p.Arg2881His) rs142753357
NM_001367624.1(ZNF469):c.8642G>T (p.Arg2881Leu) rs142753357
NM_001367624.1(ZNF469):c.8654C>T (p.Pro2885Leu) rs886052413
NM_001367624.1(ZNF469):c.8785G>A (p.Glu2929Lys) rs578166707
NM_001367624.1(ZNF469):c.8801T>A (p.Leu2934Gln) rs764531239
NM_001367624.1(ZNF469):c.8806G>A (p.Glu2936Lys) rs762301873
NM_001367624.1(ZNF469):c.8856C>T (p.Asp2952=) rs766581620
NM_001367624.1(ZNF469):c.8869G>A (p.Gly2957Ser) rs573884006
NM_001367624.1(ZNF469):c.8974A>C (p.Met2992Leu) rs886052414
NM_001367624.1(ZNF469):c.9024C>T (p.Asp3008=) rs886052415
NM_001367624.1(ZNF469):c.9174G>A (p.Leu3058=) rs886052416
NM_001367624.1(ZNF469):c.9279G>T (p.Glu3093Asp) rs886052417
NM_001367624.1(ZNF469):c.9321G>A (p.Pro3107=) rs543846859
NM_001367624.1(ZNF469):c.9373C>T (p.Arg3125Cys) rs543370102
NM_001367624.1(ZNF469):c.942G>A (p.Pro314=) rs767588443
NM_001367624.1(ZNF469):c.951C>T (p.Ala317=) rs561239255
NM_001367624.1(ZNF469):c.952G>A (p.Val318Met) rs139066376
NM_001367624.1(ZNF469):c.9676C>A (p.His3226Asn) rs867530230
NM_001367624.1(ZNF469):c.9696G>A (p.Thr3232=) rs573582117
NM_001367624.1(ZNF469):c.9705G>A (p.Ala3235=) rs757816736
NM_001367624.1(ZNF469):c.9784G>T (p.Ala3262Ser) rs886052418
NM_001367624.1(ZNF469):c.9894C>T (p.Asp3298=) rs551298094
NM_001367624.1(ZNF469):c.98C>T (p.Pro33Leu) rs752770883
NM_001367624.1(ZNF469):c.9921G>A (p.Thr3307=) rs533072680
NM_014244.5(ADAMTS2):c.*1361A>G rs142875628
NM_014244.5(ADAMTS2):c.*1446dup rs151062906
NM_014244.5(ADAMTS2):c.*1573A>C rs560216364
NM_014244.5(ADAMTS2):c.*1639C>T rs138971097
NM_014244.5(ADAMTS2):c.*1747A>C rs886060486
NM_014244.5(ADAMTS2):c.*1797C>T rs553329835
NM_014244.5(ADAMTS2):c.*181C>T rs886060489
NM_014244.5(ADAMTS2):c.*183T>C rs184732586
NM_014244.5(ADAMTS2):c.*1919T>G rs574968586
NM_014244.5(ADAMTS2):c.*1941C>T rs886060485
NM_014244.5(ADAMTS2):c.*2064A>G rs759155545
NM_014244.5(ADAMTS2):c.*2147C>T rs886060484
NM_014244.5(ADAMTS2):c.*222C>T rs886060488
NM_014244.5(ADAMTS2):c.*2270C>T rs886060483
NM_014244.5(ADAMTS2):c.*2440G>A rs546192004
NM_014244.5(ADAMTS2):c.*2587T>C rs140304884
NM_014244.5(ADAMTS2):c.*2589T>G rs886060482
NM_014244.5(ADAMTS2):c.*2595C>T rs188054405
NM_014244.5(ADAMTS2):c.*2598A>G rs371733200
NM_014244.5(ADAMTS2):c.*2724A>G rs886060481
NM_014244.5(ADAMTS2):c.*2853G>A rs565652629
NM_014244.5(ADAMTS2):c.*2854T>C rs11740156
NM_014244.5(ADAMTS2):c.*288G>A rs59090242
NM_014244.5(ADAMTS2):c.*2923_*2925AAC[1] rs886060480
NM_014244.5(ADAMTS2):c.*2951_*2952delinsAA rs386695575
NM_014244.5(ADAMTS2):c.*353C>T rs886060487
NM_014244.5(ADAMTS2):c.*445G>A rs73806886
NM_014244.5(ADAMTS2):c.*707A>G rs149592164
NM_014244.5(ADAMTS2):c.*816C>T rs116130524
NM_014244.5(ADAMTS2):c.*843G>A rs778909760
NM_014244.5(ADAMTS2):c.*977G>A rs138084603
NM_014244.5(ADAMTS2):c.-13C>A rs886060499
NM_014244.5(ADAMTS2):c.-45T>C rs886060500
NM_014244.5(ADAMTS2):c.1069G>A (p.Asp357Asn) rs763890617
NM_014244.5(ADAMTS2):c.1123G>A (p.Gly375Ser) rs886060494
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478
NM_014244.5(ADAMTS2):c.1644A>G (p.Gly548=) rs61731454
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2036G>T (p.Arg679Leu) rs144554943
NM_014244.5(ADAMTS2):c.2073C>T (p.Arg691=) rs149391669
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=) rs372661052
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=) rs150587776
NM_014244.5(ADAMTS2):c.220G>A (p.Val74Met) rs2271211
NM_014244.5(ADAMTS2):c.2276C>A (p.Thr759Asn) rs886060493
NM_014244.5(ADAMTS2):c.2290+15C>T rs764259203
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=) rs745407557
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=) rs886060497
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=) rs151261888
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474
NM_014244.5(ADAMTS2):c.2797A>G (p.Thr933Ala) rs886060492
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=) rs557019144
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met) rs367796431
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu) rs200309353
NM_014244.5(ADAMTS2):c.2914C>T (p.Arg972Cys) rs867846785
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser) rs142429109
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=) rs886060491
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=) rs777279065
NM_014244.5(ADAMTS2):c.3367C>T (p.Leu1123Phe) rs201343773
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=) rs886060490
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805
NM_014244.5(ADAMTS2):c.3506G>T (p.Gly1169Val) rs117187367
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=) rs886060496
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=) rs886060495
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala) rs202197821
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln) rs117222015
NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr) rs376820857
NM_014244.5(ADAMTS2):c.95C>T (p.Pro32Leu) rs886060498
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys) rs17667857
NM_018699.3(PRDM5):c.*120T>C rs77157999
NM_018699.3(PRDM5):c.*141T>C rs886059040
NM_018699.3(PRDM5):c.*154A>T rs181244989
NM_018699.3(PRDM5):c.*176T>C rs558671397
NM_018699.3(PRDM5):c.-133T>C rs886059046
NM_018699.3(PRDM5):c.-172C>T rs558723351
NM_018699.3(PRDM5):c.-207G>A rs879793284
NM_018699.3(PRDM5):c.-234C>T rs111704622
NM_018699.3(PRDM5):c.-245C>G rs886059047
NM_018699.3(PRDM5):c.-61G>C rs556802821
NM_018699.3(PRDM5):c.1189-14T>C rs375296023
NM_018699.3(PRDM5):c.1283-5C>T rs185134294
NM_018699.3(PRDM5):c.128G>C (p.Arg43Thr) rs563401372
NM_018699.3(PRDM5):c.1379A>G (p.Lys460Arg) rs371617787
NM_018699.3(PRDM5):c.1385G>C (p.Arg462Thr) rs886059041
NM_018699.3(PRDM5):c.1623+8T>C rs201965676
NM_018699.3(PRDM5):c.1633T>C (p.Tyr545His) rs142515463
NM_018699.3(PRDM5):c.1722G>A (p.Gln574=) rs147796327
NM_018699.3(PRDM5):c.1887C>T (p.Asp629=) rs376740879
NM_018699.3(PRDM5):c.236C>G (p.Ser79Cys) rs201325904
NM_018699.3(PRDM5):c.237C>T (p.Ser79=) rs374500219
NM_018699.3(PRDM5):c.342A>C (p.Glu114Asp) rs146228268
NM_018699.3(PRDM5):c.36G>T (p.Leu12=) rs755929725
NM_018699.3(PRDM5):c.392A>C (p.Glu131Ala) rs886059044
NM_018699.3(PRDM5):c.544C>T (p.Leu182Phe) rs199602365
NM_018699.3(PRDM5):c.592G>C (p.Glu198Gln) rs886059043
NM_018699.3(PRDM5):c.650+5G>A rs754469516
NM_018699.3(PRDM5):c.650+7A>T rs751182540
NM_018699.3(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819
NM_018699.3(PRDM5):c.743+14G>A rs185567213
NM_018699.3(PRDM5):c.94-10T>G rs886059045
NM_018699.3(PRDM5):c.946-9C>T rs886059042

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