ClinVar Miner

List of variants studied for Brittle cornea syndrome 1 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 281
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=) rs9924504 0.99996
NM_001367624.2(ZNF469):c.10990= (p.Ala3664=) rs904783 0.99962
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg) rs1983014 0.99622
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961 0.99603
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=) rs4782362 0.98833
NM_001367624.2(ZNF469):c.*788G>A rs3894713 0.98791
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=) rs9931465 0.89293
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=) rs9938800 0.89252
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300 0.87223
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=) rs12927001 0.86712
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=) rs12445417 0.85761
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794 0.84448
NM_001367624.2(ZNF469):c.*1001A>G rs3848234 0.80892
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071 0.80067
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=) rs4782301 0.77860
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=) rs12918876 0.60216
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066 0.44478
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=) rs3812953 0.43642
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474 0.36151
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956 0.32763
NM_018699.4(PRDM5):c.681A>G (p.Leu227=) rs343192 0.28756
NM_001367624.2(ZNF469):c.*8G>A rs45504291 0.24166
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=) rs12499000 0.19996
NM_001367624.2(ZNF469):c.*845T>C rs7187709 0.13371
NM_001367624.2(ZNF469):c.6462G>A (p.Pro2154=) rs61472141 0.10977
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506 0.09509
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190 0.09442
NM_001367624.2(ZNF469):c.*46C>A rs78600508 0.08121
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu) rs141218390 0.06780
NM_001367624.2(ZNF469):c.*907G>A rs1048192 0.06751
NM_001367624.2(ZNF469):c.*921_*922insG rs11382974 0.06632
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val) rs3812954 0.06060
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=) rs111557381 0.06017
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864 0.04134
NM_001367624.2(ZNF469):c.*634C>A rs74032868 0.03588
NM_018699.4(PRDM5):c.849G>A (p.Gln283=) rs17051264 0.03566
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955 0.02902
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=) rs74032865 0.02534
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=) rs148616993 0.02438
NM_018699.4(PRDM5):c.660G>A (p.Gln220=) rs74320998 0.02419
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=) rs150233193 0.02319
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951 0.02265
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys) rs116072997 0.02164
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=) rs60462217 0.02154
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769 0.02140
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=) rs76442115 0.02017
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg) rs75136873 0.02017
NM_018699.4(PRDM5):c.1066T>A (p.Ser356Thr) rs140634372 0.01952
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207 0.01795
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=) rs111986360 0.01774
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=) rs115790991 0.01614
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr) rs57052487 0.01385
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813 0.01341
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=) rs58401704 0.01305
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=) rs116696830 0.01217
NM_018699.4(PRDM5):c.*120T>C rs77157999 0.01181
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=) rs74384633 0.01153
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp) rs79155191 0.01148
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918 0.01110
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=) rs117310292 0.00992
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu) rs141776185 0.00951
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=) rs140480823 0.00931
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=) rs141666432 0.00893
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=) rs147859144 0.00882
NM_001367624.2(ZNF469):c.*665G>A rs75706884 0.00863
NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=) rs143852982 0.00854
NM_001367624.2(ZNF469):c.952G>A (p.Val318Met) rs139066376 0.00852
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=) rs74547407 0.00765
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825 0.00765
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796 0.00752
NM_001367624.2(ZNF469):c.8625G>A (p.Pro2875=) rs138771545 0.00751
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro) rs150488251 0.00706
NM_001367624.2(ZNF469):c.8067G>A (p.Gly2689=) rs116213189 0.00697
NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr) rs117555121 0.00632
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247 0.00605
NM_001367624.2(ZNF469):c.*264A>G rs193210256 0.00591
NM_001367624.2(ZNF469):c.627G>T (p.Gly209=) rs113227277 0.00590
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062 0.00587
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00528
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_001367624.2(ZNF469):c.*599C>G rs146233624 0.00440
NM_001367624.2(ZNF469):c.5856T>C (p.Cys1952=) rs186652137 0.00374
NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=) rs543846859 0.00365
NM_001367624.2(ZNF469):c.11658G>C (p.Gln3886His) rs182269913 0.00354
NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val) rs562559927 0.00344
NM_001367624.2(ZNF469):c.6259G>A (p.Ala2087Thr) rs144986357 0.00330
NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=) rs539527724 0.00287
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_001367624.2(ZNF469):c.3472C>T (p.Pro1158Ser) rs184894059 0.00268
NM_001367624.2(ZNF469):c.8869G>A (p.Gly2957Ser) rs573884006 0.00266
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524 0.00258
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr) rs145158875 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys) rs117995699 0.00222
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00222
NM_001367624.2(ZNF469):c.*420G>A rs45532839 0.00219
NM_001367624.2(ZNF469):c.*421G>T rs148260049 0.00207
NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His) rs201943633 0.00196
NM_001367624.2(ZNF469):c.*518G>A rs563015267 0.00189
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu) rs76389306 0.00188
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834 0.00185
NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser) rs138954293 0.00180
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00140
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) rs569602115 0.00135
NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile) rs536586591 0.00135
NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=) rs373162171 0.00101
NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618 0.00093
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys) rs543370102 0.00093
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr) rs199932922 0.00092
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=) rs554795578 0.00090
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn) rs867530230 0.00081
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362 0.00080
NM_018699.3(PRDM5):c.-234C>T rs111704622 0.00077
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln) rs200153921 0.00073
NM_018699.3(PRDM5):c.-172C>T rs558723351 0.00072
NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp) rs146228268 0.00070
NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg) rs772817384 0.00068
NM_001367624.2(ZNF469):c.9696G>A (p.Thr3232=) rs573582117 0.00068
NM_001367624.2(ZNF469):c.*1071A>T rs536887736 0.00065
NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly) rs536054902 0.00052
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=) rs273585636 0.00052
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr) rs553227769 0.00051
NM_001367624.2(ZNF469):c.7716G>A (p.Gln2572=) rs775513309 0.00050
NM_001367624.2(ZNF469):c.5577G>A (p.Pro1859=) rs764487066 0.00049
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=) rs763826959 0.00045
NM_001367624.2(ZNF469):c.4216G>T (p.Asp1406Tyr) rs557997233 0.00045
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp) rs575820215 0.00043
NM_001367624.2(ZNF469):c.4456G>A (p.Asp1486Asn) rs373777402 0.00036
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr) rs201540905 0.00032
NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=) rs371897217 0.00031
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His) rs142515463 0.00030
NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg) rs559625962 0.00029
NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu) rs562264117 0.00028
NM_018699.4(PRDM5):c.-61G>C rs556802821 0.00023
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=) rs273585633 0.00022
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys) rs201325904 0.00022
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe) rs568197988 0.00021
NM_001367624.2(ZNF469):c.*617C>T rs886052422 0.00020
NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg) rs557636016 0.00020
NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser) rs187453092 0.00016
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu) rs552311966 0.00015
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met) rs151127652 0.00013
NM_001367624.2(ZNF469):c.4892G>A (p.Gly1631Glu) rs755244502 0.00013
NM_001367624.2(ZNF469):c.7497G>A (p.Pro2499=) rs768288160 0.00013
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys) rs578166707 0.00013
NM_001367624.2(ZNF469):c.*218G>A rs137889724 0.00012
NM_001367624.2(ZNF469):c.*285C>T rs35994806 0.00012
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr) rs766878740 0.00012
NM_001367624.2(ZNF469):c.*216G>A rs146964491 0.00011
NM_001367624.2(ZNF469):c.10740C>T (p.Asn3580=) rs527707590 0.00011
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu) rs754458926 0.00011
NM_001367624.2(ZNF469):c.5707C>T (p.Arg1903Cys) rs757657013 0.00011
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro) rs529250336 0.00011
NM_001367624.2(ZNF469):c.951C>T (p.Ala317=) rs561239255 0.00011
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe) rs199602365 0.00011
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=) rs569036398 0.00010
NM_001367624.2(ZNF469):c.8654C>T (p.Pro2885Leu) rs886052413 0.00010
NM_018699.4(PRDM5):c.*154A>T rs181244989 0.00010
NM_001367624.2(ZNF469):c.*492G>A rs190108769 0.00009
NM_001367624.2(ZNF469):c.5145G>A (p.Arg1715=) rs577775261 0.00009
NM_001367624.2(ZNF469):c.9921G>A (p.Thr3307=) rs533072680 0.00009
NM_018699.4(PRDM5):c.1722G>A (p.Gln574=) rs147796327 0.00009
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu) rs769853271 0.00008
NM_001367624.2(ZNF469):c.609C>A (p.Pro203=) rs886052390 0.00008
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser) rs759032227 0.00008
NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg) rs886052412 0.00008
NM_001367624.2(ZNF469):c.8801T>A (p.Leu2934Gln) rs764531239 0.00008
NM_001367624.2(ZNF469):c.942G>A (p.Pro314=) rs767588443 0.00008
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro) rs370402083 0.00007
NM_001367624.2(ZNF469):c.6075G>A (p.Ala2025=) rs373300146 0.00007
NM_001367624.2(ZNF469):c.9894C>T (p.Asp3298=) rs551298094 0.00007
NM_001367624.2(ZNF469):c.11546G>A (p.Arg3849Gln) rs775672255 0.00006
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn) rs749179728 0.00006
NM_001367624.2(ZNF469):c.4574G>C (p.Ser1525Thr) rs545662898 0.00006
NM_001367624.2(ZNF469):c.7062G>A (p.Thr2354=) rs866760637 0.00006
NM_001367624.2(ZNF469):c.7116C>G (p.Thr2372=) rs762487170 0.00006
NM_001367624.2(ZNF469):c.8806G>A (p.Glu2936Lys) rs762301873 0.00006
NM_018699.4(PRDM5):c.*176T>C rs558671397 0.00006
NM_001367624.2(ZNF469):c.11052G>A (p.Ser3684=) rs780722176 0.00005
NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu) rs752770883 0.00005
NM_001367624.2(ZNF469):c.11566C>T (p.Arg3856Cys) rs762894872 0.00004
NM_001367624.2(ZNF469):c.1719C>T (p.His573=) rs552893295 0.00004
NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser) rs557351664 0.00004
NM_001367624.2(ZNF469):c.6846C>T (p.Ala2282=) rs748097865 0.00004
NM_001367624.2(ZNF469):c.8080C>T (p.Arg2694Cys) rs540443650 0.00004
NM_001367624.2(ZNF469):c.81G>A (p.Pro27=) rs534464702 0.00004
NM_001367624.2(ZNF469):c.11809G>A (p.Gly3937Arg) rs886052421 0.00003
NM_001367624.2(ZNF469):c.1875C>A (p.Leu625=) rs886052392 0.00003
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr) rs886052393 0.00003
NM_001367624.2(ZNF469):c.4778C>T (p.Ser1593Leu) rs768864900 0.00003
NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=) rs574024256 0.00003
NM_001367624.2(ZNF469):c.9784G>T (p.Ala3262Ser) rs886052418 0.00003
NM_001367624.2(ZNF469):c.*499A>G rs537339757 0.00002
NM_001367624.2(ZNF469):c.*792A>G rs886052424 0.00002
NM_001367624.2(ZNF469):c.3918G>A (p.Gly1306=) rs768501538 0.00002
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu) rs781096189 0.00002
NM_001367624.2(ZNF469):c.5010C>A (p.Ala1670=) rs766852564 0.00002
NM_001367624.2(ZNF469):c.9705G>A (p.Ala3235=) rs757816736 0.00002
NM_001367624.2(ZNF469):c.*649C>G rs561472955 0.00001
NM_001367624.2(ZNF469):c.*664C>T rs886052423 0.00001
NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn) rs568820656 0.00001
NM_001367624.2(ZNF469):c.1547G>C (p.Gly516Ala) rs753160761 0.00001
NM_001367624.2(ZNF469):c.2361C>G (p.His787Gln) rs886052395 0.00001
NM_001367624.2(ZNF469):c.2652C>G (p.Pro884=) rs767431034 0.00001
NM_001367624.2(ZNF469):c.2952C>T (p.Asp984=) rs886052398 0.00001
NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser) rs886052399 0.00001
NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=) rs756703220 0.00001
NM_001367624.2(ZNF469):c.3485G>T (p.Arg1162Leu) rs886052402 0.00001
NM_001367624.2(ZNF469):c.376A>G (p.Ser126Gly) rs886052389 0.00001
NM_001367624.2(ZNF469):c.6480C>T (p.Pro2160=) rs370190101 0.00001
NM_001367624.2(ZNF469):c.6665T>C (p.Leu2222Pro) rs78213929 0.00001
NM_001367624.2(ZNF469):c.7111G>A (p.Gly2371Arg) rs886052408 0.00001
NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys) rs886052409 0.00001
NM_001367624.2(ZNF469):c.7720C>T (p.His2574Tyr) rs886052410 0.00001
NM_001367624.2(ZNF469):c.8856C>T (p.Asp2952=) rs766581620 0.00001
NM_001367624.2(ZNF469):c.9174G>A (p.Leu3058=) rs886052416 0.00001
NM_001367624.2(ZNF469):c.9279G>T (p.Glu3093Asp) rs886052417 0.00001
NM_018699.3(PRDM5):c.-133T>C rs886059046 0.00001
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg) rs371617787 0.00001
NM_001367624.2(ZNF469):c.*1323G>A rs780254370
NM_001367624.2(ZNF469):c.*1348G>A rs886052428
NM_001367624.2(ZNF469):c.*491T>C rs557906701
NM_001367624.2(ZNF469):c.*547G>T rs370886541
NM_001367624.2(ZNF469):c.*551TCCTCCCTCTGACCACAGGGTCATGCC[3] rs6145934
NM_001367624.2(ZNF469):c.*618T>G rs3859020
NM_001367624.2(ZNF469):c.*870del rs35684712
NM_001367624.2(ZNF469):c.*879T>C rs886052426
NM_001367624.2(ZNF469):c.*932A>G rs886052427
NM_001367624.2(ZNF469):c.10325G>T (p.Arg3442Met) rs199528724
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) rs56236932
NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val) rs140056980
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val) rs530393871
NM_001367624.2(ZNF469):c.10572C>T (p.Pro3524=) rs763317477
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=) rs78022634
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001367624.2(ZNF469):c.11109G>T (p.Val3703=) rs886052419
NM_001367624.2(ZNF469):c.11536C>G (p.Arg3846Gly) rs886052420
NM_001367624.2(ZNF469):c.11822C>T (p.Thr3941Ile) rs766057875
NM_001367624.2(ZNF469):c.142G>A (p.Ala48Thr) rs886052388
NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser) rs755555951
NM_001367624.2(ZNF469):c.1932G>C (p.Thr644=) rs539996728
NM_001367624.2(ZNF469):c.1982A>G (p.Tyr661Cys) rs886052394
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg) rs571184307
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001367624.2(ZNF469):c.2810A>T (p.Asp937Val) rs550198026
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del) rs775423936
NM_001367624.2(ZNF469):c.2929G>C (p.Gly977Arg) rs770061832
NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del) rs886052397
NM_001367624.2(ZNF469):c.2986C>A (p.Arg996Ser) rs886052400
NM_001367624.2(ZNF469):c.3255G>C (p.Glu1085Asp) rs886052401
NM_001367624.2(ZNF469):c.3776G>A (p.Ser1259Asn) rs886052403
NM_001367624.2(ZNF469):c.4195C>T (p.His1399Tyr) rs886052404
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del) rs555544144
NM_001367624.2(ZNF469):c.5150C>G (p.Pro1717Arg) rs544832628
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.2(ZNF469):c.5488G>T (p.Ala1830Ser) rs778548266
NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.5912C>T (p.Ala1971Val) rs886052406
NM_001367624.2(ZNF469):c.6029G>A (p.Gly2010Glu) rs886052407
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=) rs12919507
NM_001367624.2(ZNF469):c.699C>T (p.Asp233=) rs886052391
NM_001367624.2(ZNF469):c.8003T>C (p.Met2668Thr) rs886052411
NM_001367624.2(ZNF469):c.8112G>C (p.Glu2704Asp) rs773262065
NM_001367624.2(ZNF469):c.8642G>A (p.Arg2881His) rs142753357
NM_001367624.2(ZNF469):c.8642G>T (p.Arg2881Leu) rs142753357
NM_001367624.2(ZNF469):c.8974A>C (p.Met2992Leu) rs886052414
NM_001367624.2(ZNF469):c.9024C>T (p.Asp3008=) rs886052415
NM_018699.3(PRDM5):c.-207G>A rs879793284
NM_018699.3(PRDM5):c.-245C>G rs886059047
NM_018699.4(PRDM5):c.*141T>C rs886059040
NM_018699.4(PRDM5):c.1031-6dup rs35363618
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr) rs563401372
NM_018699.4(PRDM5):c.1385G>C (p.Arg462Thr) rs886059041
NM_018699.4(PRDM5):c.1887C>T (p.Asp629=) rs376740879
NM_018699.4(PRDM5):c.237C>T (p.Ser79=) rs374500219
NM_018699.4(PRDM5):c.36G>T (p.Leu12=) rs755929725
NM_018699.4(PRDM5):c.392A>C (p.Glu131Ala) rs886059044
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln) rs886059043

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