ClinVar Miner

List of variants studied for 46,XY disorder of sex development by Illumina Laboratory Services, Illumina

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 305
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HGVS dbSNP gnomAD frequency
NM_019040.5(ELP4):c.*3208C>T rs608293 0.88020
NM_019040.5(ELP4):c.*3514_*3517dup rs397795797 0.87931
NM_019040.5(ELP4):c.*5226T>A rs1506 0.72043
NM_019040.5(ELP4):c.*2452C>T rs3026401 0.70691
NM_000348.3(SRD5A2):c.-62G>C rs632148 0.68927
NM_024426.6(WT1):c.*602A>G rs5030320 0.45163
NM_024426.6(WT1):c.*267G>C rs5030317 0.44381
NM_019040.5(ELP4):c.*4250C>T rs12421026 0.42881
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.31689
NM_019040.5(ELP4):c.*3703G>A rs3026398 0.22983
NM_000197.2(HSD17B3):c.-39A>G rs2066474 0.19625
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.16617
NM_000348.4(SRD5A2):c.*1552G>A rs1042578 0.16392
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.15374
NM_019040.5(ELP4):c.*3998C>T rs662702 0.14929
NM_024426.6(WT1):c.*88A>G rs5030315 0.14706
NM_024426.6(WT1):c.*224A>G rs5030316 0.13669
NM_000348.4(SRD5A2):c.*849A>G rs9332975 0.13522
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_000348.4(SRD5A2):c.*88T>A rs370989010 0.09406
NM_000348.4(SRD5A2):c.*91C>T rs192604242 0.08542
NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) rs2066479 0.07555
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_019040.5(ELP4):c.*2114C>G rs16922475 0.05615
NM_019040.5(ELP4):c.*3509A>G rs542906080 0.04927
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04693
NM_000348.4(SRD5A2):c.*1056G>C rs28383085 0.04363
NM_024426.6(WT1):c.*820G>C rs1042347 0.03223
NM_019040.5(ELP4):c.*2673_*2674del rs141022497 0.02792
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_019040.5(ELP4):c.*4105C>T rs73477656 0.02650
NM_024426.6(WT1):c.*1132A>T rs5030328 0.02340
NM_024426.6(WT1):c.*835A>G rs5030322 0.02303
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_000197.2(HSD17B3):c.91G>A (p.Val31Ile) rs2066480 0.01154
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) rs4986873 0.01114
NM_000197.2(HSD17B3):c.-10G>C rs2066484 0.01032
NM_000197.2(HSD17B3):c.-29A>G rs2066476 0.01018
NM_000348.4(SRD5A2):c.*43G>A rs28383082 0.00951
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_019040.5(ELP4):c.*3851C>T rs141344418 0.00935
NM_000348.4(SRD5A2):c.*1356A>C rs28383087 0.00919
NM_024426.6(WT1):c.*1209A>G rs5030329 0.00900
NM_024426.6(WT1):c.*1098C>T rs5030327 0.00867
NM_000348.4(SRD5A2):c.*1273A>G rs28383086 0.00863
NM_000348.4(SRD5A2):c.*224A>T rs28383083 0.00862
NM_019040.5(ELP4):c.*3994C>A rs79739975 0.00857
NM_019040.5(ELP4):c.*3425C>T rs3026399 0.00813
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_001368894.2(PAX6):c.-180A>G rs75563367 0.00766
NM_000197.2(HSD17B3):c.804C>T (p.Cys268=) rs8190555 0.00740
NM_019040.5(ELP4):c.*4172A>C rs73477658 0.00701
NM_000197.2(HSD17B3):c.195G>A (p.Ser65=) rs2066478 0.00665
NM_000348.4(SRD5A2):c.*259T>C rs61750400 0.00652
NM_024426.6(WT1):c.*897G>C rs5030324 0.00520
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile) rs58174009 0.00436
NM_000348.4(SRD5A2):c.*981G>A rs191186592 0.00429
NM_024426.6(WT1):c.*16G>T rs2234594 0.00421
NM_019040.5(ELP4):c.*2740G>A rs149777109 0.00394
NM_024426.6(WT1):c.*542G>A rs142726499 0.00380
NM_000348.4(SRD5A2):c.*372G>A rs147184986 0.00370
NM_024426.6(WT1):c.*903G>A rs5030325 0.00370
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263 0.00303
NM_019040.5(ELP4):c.*3242G>A rs187705792 0.00303
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_000781.3(CYP11A1):c.1167C>T (p.Pro389=) rs138177167 0.00268
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000781.3(CYP11A1):c.830-14C>G rs190239248 0.00251
NM_019040.5(ELP4):c.*3713A>T rs138881442 0.00236
NM_019040.5(ELP4):c.*5347T>C rs117590302 0.00220
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) rs139084702 0.00200
NM_019040.5(ELP4):c.*4932G>A rs181818313 0.00198
NM_024426.6(WT1):c.309C>A (p.Gly103=) rs547333427 0.00197
NM_019040.5(ELP4):c.*2040G>C rs183115097 0.00194
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_019040.5(ELP4):c.*3904G>A rs3026397 0.00189
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_000348.4(SRD5A2):c.*672T>A rs75984166 0.00167
NM_024426.6(WT1):c.*138G>A rs111351882 0.00165
NM_019040.5(ELP4):c.*4974C>T rs138035131 0.00148
NM_000781.3(CYP11A1):c.650A>C (p.Glu217Ala) rs143879080 0.00136
NM_000348.4(SRD5A2):c.*120G>A rs578234141 0.00133
NM_019040.5(ELP4):c.*1302T>C rs146579778 0.00120
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_019040.5(ELP4):c.*2525C>A rs183433948 0.00096
NM_000781.3(CYP11A1):c.93G>A (p.Arg31=) rs141127674 0.00083
NM_019040.5(ELP4):c.*2982G>A rs191399467 0.00076
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_019040.5(ELP4):c.*3528A>G rs143185259 0.00060
NM_024426.6(WT1):c.*513C>T rs575602262 0.00059
NM_000197.2(HSD17B3):c.9C>T (p.Asp3=) rs139582148 0.00056
NM_000197.2(HSD17B3):c.333C>T (p.Asp111=) rs35189151 0.00054
NM_000348.4(SRD5A2):c.*119C>T rs187924868 0.00051
NM_019040.5(ELP4):c.*3523del rs886048188 0.00050
NM_024426.6(WT1):c.*460C>A rs886048221 0.00048
NM_024426.6(WT1):c.-110C>T rs886048241 0.00048
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_000781.3(CYP11A1):c.915C>G (p.Leu305=) rs148430549 0.00043
NM_024426.6(WT1):c.375C>T (p.Gly125=) rs776209354 0.00039
NM_000197.2(HSD17B3):c.277+4A>T rs201115371 0.00038
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_024426.6(WT1):c.*1167T>G rs771770230 0.00035
NM_024426.6(WT1):c.*12C>T rs77462662 0.00034
NM_024426.6(WT1):c.-76T>C rs886048235 0.00032
NM_000781.3(CYP11A1):c.86G>A (p.Arg29His) rs150725205 0.00031
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_019040.5(ELP4):c.*5016T>G rs776894983 0.00031
NM_019040.5(ELP4):c.*1783T>G rs140971065 0.00030
NM_024426.6(WT1):c.1182C>T (p.Arg394=) rs147939483 0.00027
NM_000781.3(CYP11A1):c.261G>A (p.Pro87=) rs141375785 0.00026
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_024426.6(WT1):c.-106C>T rs867975105 0.00021
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_019040.5(ELP4):c.*3433G>T rs192709453 0.00019
NM_024426.6(WT1):c.*534C>T rs868546165 0.00019
NM_024426.6(WT1):c.124G>A (p.Gly42Ser) rs762288656 0.00019
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00019
NM_024426.6(WT1):c.*666A>G rs374306749 0.00018
NM_000781.3(CYP11A1):c.280G>A (p.Gly94Ser) rs190764523 0.00017
NM_019040.5(ELP4):c.*3383C>T rs541022955 0.00017
NM_000197.2(HSD17B3):c.663C>T (p.Val221=) rs139149152 0.00015
NM_024426.6(WT1):c.*239G>A rs886048226 0.00013
NM_024426.6(WT1):c.1017-15T>C rs374441355 0.00012
NM_000348.4(SRD5A2):c.*1422G>A rs757100337 0.00011
NM_000348.4(SRD5A2):c.*278C>T rs151234587 0.00011
NM_019040.5(ELP4):c.*4806T>A rs189545730 0.00011
NM_000197.2(HSD17B3):c.489+9T>C rs370307178 0.00009
NM_000781.3(CYP11A1):c.1091A>G (p.Gln364Arg) rs57982762 0.00009
NM_000781.3(CYP11A1):c.1158-5C>T rs377242922 0.00009
NM_000781.3(CYP11A1):c.269+4A>G rs199573967 0.00009
NM_024426.6(WT1):c.381C>G (p.Pro127=) rs771681406 0.00009
NM_019040.5(ELP4):c.*5123T>A rs576321279 0.00008
NM_019040.5(ELP4):c.*2502G>A rs886048185 0.00007
NM_024426.6(WT1):c.*159G>C rs746218880 0.00007
NM_024426.6(WT1):c.*574del rs5030319 0.00007
NM_024426.6(WT1):c.1017-9T>C rs368486676 0.00007
NM_024426.6(WT1):c.1020C>T (p.His340=) rs375114529 0.00007
NM_000197.2(HSD17B3):c.328G>T (p.Asp110Tyr) rs150424854 0.00006
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_019040.5(ELP4):c.*3092T>C rs371438311 0.00006
NM_024426.6(WT1):c.-140C>T rs886048244 0.00006
NM_024426.6(WT1):c.162C>G (p.Ser54Arg) rs776954184 0.00006
NM_024426.6(WT1):c.696C>T (p.Ser232=) rs9332974 0.00006
NM_024426.6(WT1):c.785G>A (p.Gly262Asp) rs372225738 0.00006
NM_000197.2(HSD17B3):c.441G>A (p.Pro147=) rs188471808 0.00005
NM_000781.3(CYP11A1):c.-59A>G rs567971184 0.00005
NM_019040.5(ELP4):c.*2664G>A rs567720234 0.00005
NM_000197.2(HSD17B3):c.641A>G (p.Glu214Gly) rs370264627 0.00004
NM_000197.2(HSD17B3):c.880C>T (p.Leu294=) rs762619509 0.00004
NM_000781.3(CYP11A1):c.371C>T (p.Pro124Leu) rs541943607 0.00004
NM_000781.3(CYP11A1):c.625+15A>G rs112977174 0.00004
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_024426.6(WT1):c.813G>C (p.Pro271=) rs1341857958 0.00004
NM_000348.4(SRD5A2):c.-20C>T rs769873996 0.00003
NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) rs764270391 0.00003
NM_019040.5(ELP4):c.*1877A>G rs745626044 0.00003
NM_019040.5(ELP4):c.*3504T>C rs886048187 0.00003
NM_019040.5(ELP4):c.*3920C>T rs886048191 0.00003
NM_024426.6(WT1):c.*614A>C rs886048219 0.00003
NM_024426.6(WT1):c.1124G>A (p.Arg375His) rs554416372 0.00003
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln) rs147241955 0.00003
NM_000197.2(HSD17B3):c.-34C>T rs759418931 0.00002
NM_000348.4(SRD5A2):c.*392A>C rs1194956705 0.00002
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_019040.5(ELP4):c.*1714C>G rs180780893 0.00002
NM_024426.6(WT1):c.*110C>T rs757474299 0.00002
NM_024426.6(WT1):c.*785C>A rs886048214 0.00002
NM_024426.6(WT1):c.587G>A (p.Gly196Asp) rs753112302 0.00002
NM_024426.6(WT1):c.887+4G>A rs778673400 0.00002
NM_000197.2(HSD17B3):c.-6G>A rs200708778 0.00001
NM_000197.2(HSD17B3):c.199G>A (p.Glu67Lys) rs1017003712 0.00001
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077 0.00001
NM_000197.2(HSD17B3):c.540C>T (p.Ile180=) rs563341078 0.00001
NM_000348.3(SRD5A2):c.-55G>A rs577957973 0.00001
NM_000348.4(SRD5A2):c.*1133A>G rs886055949 0.00001
NM_000348.4(SRD5A2):c.*1492A>G rs28383088 0.00001
NM_000348.4(SRD5A2):c.*286A>G rs886055952 0.00001
NM_000348.4(SRD5A2):c.*686G>T rs886055950 0.00001
NM_000781.3(CYP11A1):c.25C>T (p.Arg9Cys) rs573648284 0.00001
NM_000781.3(CYP11A1):c.999G>A (p.Met333Ile) rs111361716 0.00001
NM_001368894.2(PAX6):c.*207G>A rs886048199 0.00001
NM_001368894.2(PAX6):c.*226T>C rs753595935 0.00001
NM_001368894.2(PAX6):c.-59G>T rs886048204 0.00001
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) rs769095184 0.00001
NM_001368894.2(PAX6):c.972A>T (p.Thr324=) rs779631884 0.00001
NM_019040.5(ELP4):c.*3859G>A rs886048190 0.00001
NM_019040.5(ELP4):c.*4023C>A rs886048194 0.00001
NM_019040.5(ELP4):c.*4889G>A rs886048196 0.00001
NM_019040.5(ELP4):c.*5357A>G rs886048197 0.00001
NM_019040.5(ELP4):c.*5471T>C rs886048198 0.00001
NM_024426.6(WT1):c.*1066T>G rs936717004 0.00001
NM_024426.6(WT1):c.*611C>T rs886048220 0.00001
NM_024426.6(WT1):c.1198T>C (p.Tyr400His) rs746353651 0.00001
NM_024426.6(WT1):c.1568G>A (p.Ter523=) rs148856160 0.00001
NM_024426.6(WT1):c.620T>G (p.Leu207Arg) rs1258754686 0.00001
NM_024426.6(WT1):c.83G>A (p.Gly28Glu) rs751641518 0.00001
NM_024426.6(WT1):c.973G>A (p.Ala325Thr) rs1712081462 0.00001
NM_000044.6(AR):c.2338C>T (p.Arg780Trp) rs2076137289
NM_000197.2(HSD17B3):c.*148C>A rs778147562
NM_000197.2(HSD17B3):c.*1C>T rs1554691418
NM_000197.2(HSD17B3):c.278-6G>C rs2066483
NM_000197.2(HSD17B3):c.386-5G>A rs1045653050
NM_000197.2(HSD17B3):c.435C>T (p.Asn145=) rs115684579
NM_000197.2(HSD17B3):c.490-4G>T rs1313736012
NM_000348.3(SRD5A2):c.-64A>G rs886055956
NM_000348.4(SRD5A2):c.*1151_*1152dup rs74702388
NM_000348.4(SRD5A2):c.*1152del rs74702388
NM_000348.4(SRD5A2):c.*1242A>G rs1665741244
NM_000348.4(SRD5A2):c.*1290C>A rs549077867
NM_000348.4(SRD5A2):c.*1290C>G rs549077867
NM_000348.4(SRD5A2):c.*1384A>G rs1665736847
NM_000348.4(SRD5A2):c.*1440T>G rs1665735409
NM_000348.4(SRD5A2):c.*1504A>T rs1665733488
NM_000348.4(SRD5A2):c.*307A>G rs542605254
NM_000348.4(SRD5A2):c.*510T>G rs1665761786
NM_000348.4(SRD5A2):c.*572C>T rs1665760528
NM_000348.4(SRD5A2):c.*614T>A rs886055951
NM_000348.4(SRD5A2):c.*88_*91delinsACCTATATATATATATATATATAT rs886055954
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.4(SRD5A2):c.230G>A (p.Gly77Glu) rs886055955
NM_000348.4(SRD5A2):c.264C>G (p.Cys88Trp) rs867198056
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057
NM_000781.3(CYP11A1):c.-35A>G rs886051481
NM_000781.3(CYP11A1):c.1073C>T (p.Ala358Val) rs2060597413
NM_000781.3(CYP11A1):c.1164C>T (p.His388=) rs537187397
NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn) rs886051479
NM_000781.3(CYP11A1):c.23C>T (p.Pro8Leu) rs2060740796
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_000781.3(CYP11A1):c.589G>C (p.Asp197His) rs886051480
NM_000781.3(CYP11A1):c.757G>C (p.Asp253His) rs775022280
NM_001368894.2(PAX6):c.*107G>C rs886048201
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*356del rs200391530
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.-501del rs886048208
NM_001368894.2(PAX6):c.-507T>C rs886048209
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG rs886048180
NM_019040.5(ELP4):c.*1811A>C rs185968715
NM_019040.5(ELP4):c.*2049A>G rs886048181
NM_019040.5(ELP4):c.*2282G>A rs886048182
NM_019040.5(ELP4):c.*2334T>G rs886048183
NM_019040.5(ELP4):c.*2407C>A rs886048184
NM_019040.5(ELP4):c.*2710CA[2] rs886048186
NM_019040.5(ELP4):c.*3164_*3165insAAAA rs34919147
NM_019040.5(ELP4):c.*3703_*3705del rs886048189
NM_019040.5(ELP4):c.*3978T>C rs886048192
NM_019040.5(ELP4):c.*4017A>G rs886048193
NM_019040.5(ELP4):c.*4025C>G rs886048195
NM_019040.5(ELP4):c.*4251G>A rs3026396
NM_024426.6(WT1):c.*100A>G rs1851738551
NM_024426.6(WT1):c.*1021GT[14] rs58549495
NM_024426.6(WT1):c.*1021GT[15] rs58549495
NM_024426.6(WT1):c.*1021GT[18] rs58549495
NM_024426.6(WT1):c.*1021GT[19] rs58549495
NM_024426.6(WT1):c.*1021GT[20] rs58549495
NM_024426.6(WT1):c.*1049del rs568803808
NM_024426.6(WT1):c.*1058G>T rs886048211
NM_024426.6(WT1):c.*1225T>C rs886048210
NM_024426.6(WT1):c.*1239T>A rs534396876
NM_024426.6(WT1):c.*269G>T rs886048225
NM_024426.6(WT1):c.*345G>A rs5030318
NM_024426.6(WT1):c.*354G>T rs886048224
NM_024426.6(WT1):c.*366C>A rs886048223
NM_024426.6(WT1):c.*393G>T rs886048222
NM_024426.6(WT1):c.*5T>C rs765743928
NM_024426.6(WT1):c.*629T>C rs1851723085
NM_024426.6(WT1):c.*685G>T rs886048218
NM_024426.6(WT1):c.*707C>A rs886048217
NM_024426.6(WT1):c.*741G>T rs886048216
NM_024426.6(WT1):c.*768A>C rs886048215
NM_024426.6(WT1):c.*841C>A rs886048213
NM_024426.6(WT1):c.*864T>A rs5030323
NM_024426.6(WT1):c.*864T>G rs5030323
NM_024426.6(WT1):c.*978dup rs5030326
NM_024426.6(WT1):c.-102C>A rs886048240
NM_024426.6(WT1):c.-114T>A rs886048242
NM_024426.6(WT1):c.-135G>A rs886048243
NM_024426.6(WT1):c.-31G>T rs886048234
NM_024426.6(WT1):c.-82A>C rs886048236
NM_024426.6(WT1):c.-86T>C rs886048237
NM_024426.6(WT1):c.-87C>T rs1395440150
NM_024426.6(WT1):c.-90T>C rs886048238
NM_024426.6(WT1):c.-94G>C rs886048239
NM_024426.6(WT1):c.1200C>T (p.Tyr400=) rs886048227
NM_024426.6(WT1):c.136G>T (p.Ala46Ser) rs886048233
NM_024426.6(WT1):c.174C>G (p.Leu58=) rs886048232
NM_024426.6(WT1):c.247G>T (p.Ala83Ser) rs886048231
NM_024426.6(WT1):c.285C>T (p.Gly95=) rs886048230
NM_024426.6(WT1):c.298C>G (p.Pro100Ala) rs567200038
NM_024426.6(WT1):c.313G>T (p.Ala105Ser) rs1236417259
NM_024426.6(WT1):c.347C>T (p.Pro116Leu) rs886048229
NM_024426.6(WT1):c.390A>G (p.Pro130=) rs886048228
NM_024426.6(WT1):c.402G>A (p.Pro134=) rs777527675
NM_024426.6(WT1):c.695G>C (p.Ser232Thr) rs761913397

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