ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 615
Download table as spreadsheet
HGVS dbSNP
NM_000089.3(COL1A2):c.*194C>T rs1060399
NM_000089.3(COL1A2):c.*195C>T rs190115417
NM_000089.3(COL1A2):c.*205A>G rs6955879
NM_000089.3(COL1A2):c.*283T>C rs114837909
NM_000089.3(COL1A2):c.*415T>G rs148913603
NM_000089.3(COL1A2):c.*605A>G rs537557756
NM_000089.3(COL1A2):c.*618T>C rs557107553
NM_000089.3(COL1A2):c.*654_*655insGTTGTCC rs3917
NM_000089.3(COL1A2):c.*804G>T rs1062394
NM_000089.3(COL1A2):c.-188C>T rs886062512
NM_000089.3(COL1A2):c.-287C>T rs190926256
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>A rs114322680
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.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.1252-6delG rs886062516
NM_000089.3(COL1A2):c.1446A>C (p.Pro482=) rs412777
NM_000089.3(COL1A2):c.1564C>T (p.Pro522Ser) rs199732595
NM_000089.3(COL1A2):c.1645C>G (p.Pro549Ala) rs42524
NM_000089.3(COL1A2):c.1665+15A>G rs421587
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.1878G>T (p.Val626=) rs1800238
NM_000089.3(COL1A2):c.1971+5G>A rs375027186
NM_000089.3(COL1A2):c.2025+9A>G rs368837694
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.2456G>A (p.Arg819His) rs773985005
NM_000089.3(COL1A2):c.246T>C (p.Asp82=) rs1800222
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.3018C>T (p.Gly1006=) rs62001059
NM_000089.3(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000089.3(COL1A2):c.3211C>A (p.Pro1071Thr) rs886062518
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000089.3(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365
NM_000089.3(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220
NM_000089.3(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779
NM_000089.3(COL1A2):c.3712-13C>T rs74335369
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.3849T>C (p.Thr1283=) rs34038163
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.594+5A>T rs200744314
NM_000089.3(COL1A2):c.693+12C>A rs767990110
NM_000089.3(COL1A2):c.71C>G (p.Ser24Cys) rs763546006
NM_000089.3(COL1A2):c.783T>C (p.Pro261=) rs200436925
NM_000089.3(COL1A2):c.81+8A>C rs765118884
NM_000089.3(COL1A2):c.82-12A>G rs143689469
NM_000089.3(COL1A2):c.87T>C (p.Thr29=) rs1801182
NM_000089.3(COL1A2):c.892-13C>G rs200532328
NM_000089.3(COL1A2):c.936+14C>T rs42518
NM_000089.3(COL1A2):c.937-3C>T rs42519
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
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.*34T>G rs191843385
NM_000090.3(COL3A1):c.*354C>T rs41265555
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.*43A>G rs8224
NM_000090.3(COL3A1):c.*467T>A rs886055341
NM_000090.3(COL3A1):c.*592T>A rs115345151
NM_000090.3(COL3A1):c.*622T>C rs572369155
NM_000090.3(COL3A1):c.*625C>T rs886055342
NM_000090.3(COL3A1):c.*674G>A rs190903102
NM_000090.3(COL3A1):c.*692G>A rs886055343
NM_000090.3(COL3A1):c.*799_*800delAG rs13306265
NM_000090.3(COL3A1):c.*818T>C rs886055344
NM_000090.3(COL3A1):c.*88C>T rs11162
NM_000090.3(COL3A1):c.*89G>A rs886055335
NM_000090.3(COL3A1):c.*923A>T rs146222772
NM_000090.3(COL3A1):c.*947C>T rs886055345
NM_000090.3(COL3A1):c.-101G>A rs41265577
NM_000090.3(COL3A1):c.-80G>A rs41265575
NM_000090.3(COL3A1):c.1051-13G>A rs371934572
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1257C>T (p.Ala419=) rs41272837
NM_000090.3(COL3A1):c.1293+15T>A rs2271679
NM_000090.3(COL3A1):c.1348-4delT rs758567906
NM_000090.3(COL3A1):c.1348-4dupT rs758567906
NM_000090.3(COL3A1):c.1509+5A>G rs572863064
NM_000090.3(COL3A1):c.1509+7A>C rs201740954
NM_000090.3(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1770T>C (p.Pro590=) rs80302667
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1816-14G>C rs7579815
NM_000090.3(COL3A1):c.1851G>A (p.Gln617=) rs7579903
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
NM_000090.3(COL3A1):c.1978-11C>T rs13306272
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.2065G>T (p.Ala689Ser) rs886055331
NM_000090.3(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2244T>C (p.Gly748=) rs1801184
NM_000090.3(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.3(COL3A1):c.2493T>C (p.Gly831=) rs551541918
NM_000090.3(COL3A1):c.2712C>T (p.Pro904=) rs375673185
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.2958C>T (p.Asn986=) rs41264441
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3202-14delT rs767971610
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.3613A>G (p.Ile1205Val) rs2271683
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) rs34781844
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.3966G>A (p.Glu1322=) rs560861999
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.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4142A>G (p.Gln1381Arg) rs886055334
NM_000090.3(COL3A1):c.432C>T (p.Cys144=) rs539430522
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.529-5T>G rs886055329
NM_000090.3(COL3A1):c.583-7T>C rs886055330
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.80-13A>C rs566189676
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.898-5T>C rs535434618
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.*440G>C rs11553681
NM_000302.4(PLOD1):c.*528G>A rs886045215
NM_000302.4(PLOD1):c.*61T>C rs886045209
NM_000302.4(PLOD1):c.*71C>G rs2230899
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.1141G>A (p.Val381Met) rs2230896
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.1206C>T (p.Asn402=) rs1130529
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.1632A>C (p.Ala544=) rs2230898
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.177C>T (p.Gly59=) rs34032489
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537
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.2124T>C (p.His708=) rs879690
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691
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.250G>A (p.Ala84Thr) rs34878020
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175
NM_000302.4(PLOD1):c.302+15G>A rs140227667
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser) rs772861343
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757
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.*870delT rs35684712
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.*1001A>G rs3848234
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.*46C>A rs78600508
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.*551_*577TCCTCCCTCTGACCACAGGGTCATGCC[3] rs6145934
NM_001367624.1(ZNF469):c.*599C>G rs146233624
NM_001367624.1(ZNF469):c.*617C>T rs886052422
NM_001367624.1(ZNF469):c.*618T>G rs3859020
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.*788G>A rs3894713
NM_001367624.1(ZNF469):c.*792A>G rs886052424
NM_001367624.1(ZNF469):c.*845T>C rs7187709
NM_001367624.1(ZNF469):c.*879T>C rs886052426
NM_001367624.1(ZNF469):c.*8G>A rs45504291
NM_001367624.1(ZNF469):c.*907G>A rs1048192
NM_001367624.1(ZNF469):c.*921_*922insG rs11382974
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.10328G>T (p.Gly3443Val) rs140056980
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.10599C>T (p.Pro3533=) rs78022634
NM_001367624.1(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001367624.1(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834
NM_001367624.1(ZNF469):c.10708G>A (p.Ala3570Thr) rs57052487
NM_001367624.1(ZNF469):c.10740C>T (p.Asn3580=) rs527707590
NM_001367624.1(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066
NM_001367624.1(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951
NM_001367624.1(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794
NM_001367624.1(ZNF469):c.10990= (p.Ala3664=) rs904783
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.11409G>C (p.Gly3803=) rs150233193
NM_001367624.1(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513
NM_001367624.1(ZNF469):c.1143C>A (p.Pro381=) rs74032864
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.11757A>G (p.Pro3919=) rs4782301
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.11856C>T (p.Ser3952=) rs4782362
NM_001367624.1(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803
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.1471G>A (p.Ala491Thr) rs117555121
NM_001367624.1(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506
NM_001367624.1(ZNF469):c.1528G>A (p.Gly510Ser) rs755555951
NM_001367624.1(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961
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.1697C>T (p.Ala566Val) rs181785233
NM_001367624.1(ZNF469):c.1719C>T (p.His573=) rs552893295
NM_001367624.1(ZNF469):c.1776A>G (p.Pro592=) rs12927001
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.1994C>T (p.Pro665Leu) rs184583062
NM_001367624.1(ZNF469):c.2034C>T (p.Ala678=) rs58401704
NM_001367624.1(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362
NM_001367624.1(ZNF469):c.2085C>T (p.Pro695=) rs74547407
NM_001367624.1(ZNF469):c.2130T>C (p.Pro710=) rs12918876
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.2370G>A (p.Leu790=) rs147859144
NM_001367624.1(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918
NM_001367624.1(ZNF469):c.2574G>C (p.Pro858=) rs74384633
NM_001367624.1(ZNF469):c.2652C>G (p.Pro884=) rs767431034
NM_001367624.1(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
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.2803G>A (p.Glu935Lys) rs117995699
NM_001367624.1(ZNF469):c.2810A>T (p.Asp937Val) rs550198026
NM_001367624.1(ZNF469):c.2814G>A (p.Ala938=) rs140480823
NM_001367624.1(ZNF469):c.2873T>C (p.Leu958Pro) rs370402083
NM_001367624.1(ZNF469):c.2913C>A (p.Gly971=) rs60462217
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.3125G>A (p.Arg1042Gln) rs181077813
NM_001367624.1(ZNF469):c.3153T>C (p.Ile1051=) rs9924504
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.3516T>C (p.Arg1172=) rs111557381
NM_001367624.1(ZNF469):c.3522G>A (p.Pro1174=) rs9938800
NM_001367624.1(ZNF469):c.3565C>A (p.Pro1189Thr) rs766878740
NM_001367624.1(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071
NM_001367624.1(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769
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.3894G>C (p.Val1298=) rs115790991
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.4343C>T (p.Pro1448Leu) rs4782300
NM_001367624.1(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825
NM_001367624.1(ZNF469):c.4376T>G (p.Leu1459Arg) rs559625962
NM_001367624.1(ZNF469):c.4406A>G (p.Tyr1469Cys) rs116072997
NM_001367624.1(ZNF469):c.4419T>G (p.Ser1473=) rs12445417
NM_001367624.1(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247
NM_001367624.1(ZNF469):c.4434C>T (p.Ser1478=) rs74032865
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.4884G>A (p.Thr1628=) rs141666432
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.4926G>A (p.Ser1642=) rs117310292
NM_001367624.1(ZNF469):c.5010C>A (p.Ala1670=) rs766852564
NM_001367624.1(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796
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.5661C>G (p.Thr1887=) rs9931465
NM_001367624.1(ZNF469):c.5697C>T (p.Ser1899=) rs111986360
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.6032G>A (p.Gly2011Asp) rs79155191
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.62G>A (p.Arg21His) rs145178398
NM_001367624.1(ZNF469):c.6388C>G (p.Leu2130Val) rs562559927
NM_001367624.1(ZNF469):c.6462G>A (p.Pro2154=) rs61472141
NM_001367624.1(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190
NM_001367624.1(ZNF469):c.6480C>T (p.Pro2160=) rs370190101
NM_001367624.1(ZNF469):c.6552G>T (p.Thr2184=) rs12919507
NM_001367624.1(ZNF469):c.6665T>C (p.Leu2222Pro) rs78213929
NM_001367624.1(ZNF469):c.6777G>A (p.Glu2259=) rs76442115
NM_001367624.1(ZNF469):c.6779A>G (p.Lys2260Arg) rs75136873
NM_001367624.1(ZNF469):c.6846C>T (p.Ala2282=) rs748097865
NM_001367624.1(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207
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.7156G>C (p.Gly2386Arg) rs12598474
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.7508C>A (p.Ala2503Glu) rs141218390
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.7805T>C (p.Leu2602Pro) rs150488251
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.8093T>A (p.Leu2698Gln) rs3812956
NM_001367624.1(ZNF469):c.8112G>C (p.Glu2704Asp) rs773262065
NM_001367624.1(ZNF469):c.8121G>A (p.Ala2707=) rs116696830
NM_001367624.1(ZNF469):c.81G>A (p.Pro27=) rs534464702
NM_001367624.1(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955
NM_001367624.1(ZNF469):c.8330A>T (p.Asp2777Val) rs3812954
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.8604C>T (p.Arg2868=) rs3812953
NM_001367624.1(ZNF469):c.8625G>A (p.Pro2875=) rs138771545
NM_001367624.1(ZNF469):c.8627A>G (p.His2876Arg) rs1983014
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.869C>T (p.Ala290Val) rs117501524
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.9004A>C (p.Met3002Leu) rs141776185
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.9555C>G (p.Ala3185=) rs273585636
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.*1247C>T rs77506744
NM_014244.5(ADAMTS2):c.*1361A>G rs142875628
NM_014244.5(ADAMTS2):c.*1437_*1438del rs375426260
NM_014244.5(ADAMTS2):c.*1446dup rs151062906
NM_014244.5(ADAMTS2):c.*1468A>G rs2059776
NM_014244.5(ADAMTS2):c.*1486C>A rs1863918
NM_014244.5(ADAMTS2):c.*1573A>C rs560216364
NM_014244.5(ADAMTS2):c.*1579_*1585del rs539443462
NM_014244.5(ADAMTS2):c.*1586A>G rs888760
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.*1819G>A rs115989271
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.*212A>C rs10479525
NM_014244.5(ADAMTS2):c.*2147C>T rs886060484
NM_014244.5(ADAMTS2):c.*2196T>A rs147985762
NM_014244.5(ADAMTS2):c.*222C>T rs886060488
NM_014244.5(ADAMTS2):c.*2270C>T rs886060483
NM_014244.5(ADAMTS2):c.*2301C>T rs115104288
NM_014244.5(ADAMTS2):c.*2396C>T rs3797615
NM_014244.5(ADAMTS2):c.*2439C>T rs78886769
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.*2918G>A rs60250623
NM_014244.5(ADAMTS2):c.*2923_*2925AAC[1] rs886060480
NM_014244.5(ADAMTS2):c.*2951G>A rs1044205
NM_014244.5(ADAMTS2):c.*2951_*2952delinsAA rs386695575
NM_014244.5(ADAMTS2):c.*2952T>A rs1044209
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.*842T>C rs10038484
NM_014244.5(ADAMTS2):c.*843G>A rs778909760
NM_014244.5(ADAMTS2):c.*847C>T rs78622875
NM_014244.5(ADAMTS2):c.*853G>T rs17666900
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.1194C>T (p.Asp398=) rs2278221
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=) rs34424371
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.1803G>A (p.Ser601=) rs76754323
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260
NM_014244.5(ADAMTS2):c.1908C>T (p.His636=) rs1862211
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2028C>T (p.Asp676=) rs1972715
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.2291-8A>G rs140401199
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.2480G>A (p.Arg827Gln) rs35445112
NM_014244.5(ADAMTS2):c.2532C>T (p.Asp844=) rs2303644
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.2730A>G (p.Pro910=) rs6869261
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.321T>C (p.Ser107=) rs2271212
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.3480C>A (p.Ala1160=) rs34437036
NM_014244.5(ADAMTS2):c.3506G>T (p.Gly1169Val) rs117187367
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser) rs1054480
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=) rs886060496
NM_014244.5(ADAMTS2):c.47_49TGC[7] (p.Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.47_49TGC[9] (p.Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.534+9G>C rs2271213
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.673C>T (p.Gln225Ter) rs137853146
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala) rs202197821
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile) rs398829
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.786G>A (p.Ala262=) rs423552
NM_014244.5(ADAMTS2):c.858C>T (p.His286=) rs66565583
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=) rs35462609
NM_014244.5(ADAMTS2):c.95C>T (p.Pro32Leu) rs886060498
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys) rs17667857
NM_014874.3(MFN2):c.-212T>C rs2180183
NM_014874.3(MFN2):c.-367A>G rs2236054
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.1031-6dup rs35363618
NM_018699.3(PRDM5):c.1066T>A (p.Ser356Thr) rs140634372
NM_018699.3(PRDM5):c.1189-14T>C rs375296023
NM_018699.3(PRDM5):c.1234T>C (p.Leu412=) rs12499000
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.660G>A (p.Gln220=) rs74320998
NM_018699.3(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819
NM_018699.3(PRDM5):c.681A>G (p.Leu227=) rs343192
NM_018699.3(PRDM5):c.743+14G>A rs185567213
NM_018699.3(PRDM5):c.849G>A (p.Gln283=) rs17051264
NM_018699.3(PRDM5):c.94-10T>G rs886059045
NM_018699.3(PRDM5):c.946-9C>T rs886059042

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.