ClinVar Miner

List of variants in gene ZNF469 studied for Corneal fragility keratoglobus, blue sclerae AND joint hypermobility

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Gene type:
ClinVar version:
Total variants: 272
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HGVS dbSNP
NG_012236.2:g.10779C>T
NG_012236.2:g.11027del
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.10100G>A (p.Cys3367Tyr) rs387907062
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.10888C>T (p.Arg3630Cys) rs200668806
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.11821A>C (p.Thr3941Pro) rs1555520642
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.1483C>T (p.Pro495Ser) rs202205643
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.1856G>T (p.Ser619Ile) rs1187845779
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.3452C>T (p.Ala1151Val) rs755348435
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.3773C>A (p.Ala1258Glu) rs141255631
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.4258G>T (p.Glu1420Ter) rs387907063
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.457C>G (p.Pro153Ala) rs532620482
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.4829G>A (p.Arg1610His) rs567038987
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.4952A>G (p.Gln1651Arg) rs773925755
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.5114C>T (p.Thr1705Ile) rs768667107
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.5914G>A (p.Gly1972Arg) rs766410344
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.8705C>T (p.Thr2902Met) rs536725615
NM_001367624.1(ZNF469):c.8785G>A (p.Glu2929Lys) rs578166707
NM_001367624.1(ZNF469):c.8788G>T (p.Asp2930Tyr) rs76792613
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.9368G>A (p.Arg3123His) rs536601676
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
Single allele
ZNF469, 1-BP DEL, 9527G

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