ClinVar Miner

List of variants reported as pathogenic by Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 306
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HGVS dbSNP gnomAD frequency
NM_001012728.2(DPRX):c.466C>T (p.Arg156Ter) rs201435914 0.00036
NM_001346022.3(USP45):c.1990G>T (p.Gly664Ter) rs141844660 0.00012
NM_017908.4(ZNF446):c.1028G>A (p.Trp343Ter) rs776780438 0.00010
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_004961.4(GABRE):c.399C>A (p.Tyr133Ter) rs998297769 0.00003
NM_001247997.2(CLIP1):c.430C>T (p.Arg144Ter) rs984649575 0.00002
NM_004284.6(CHD1L):c.1929del (p.Arg643fs) rs782144677 0.00002
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter) rs730881939 0.00002
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492 0.00001
NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter) rs1443187318 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_152718.2(VWCE):c.1633C>T (p.Arg545Ter) rs537353127 0.00001
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000216.4(ANOS1):c.1369C>T (p.Arg457Ter) rs727505374
NM_000251.3(MSH2):c.1405del (p.Leu469_Val470insTer) rs1060502027
NM_000251.3(MSH2):c.2101G>T (p.Glu701Ter)
NM_000264.5(PTCH1):c.1304_1305del (p.Phe434_Ser435insTer)
NM_000458.3(HNF1B):c.1046del
NM_000458.3:c.1046_*941del
NM_000458.3:c.1046_1674del
NM_000458.3:c.1_1045del
NM_000458.3:c.1_809del
NM_000458.3:c.545_1045del
NM_000458.4(HNF1B):c.1006del (p.His336fs)
NM_000458.4(HNF1B):c.1006dup (p.His336fs) rs1598840795
NM_000458.4(HNF1B):c.1009dup (p.His337fs) rs1598840773
NM_000458.4(HNF1B):c.1046-294_1206+704delinsGGTTTAAGGCACTACATTTTTTGGGAAGGACAGAAATCATGAAGTTAAAAGGAGG
NM_000458.4(HNF1B):c.1046-2A>G
NM_000458.4(HNF1B):c.1047_1206+1del
NM_000458.4(HNF1B):c.1047_1206+1dup
NM_000458.4(HNF1B):c.1048dup (p.Val350fs)
NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter)
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs)
NM_000458.4(HNF1B):c.110dup (p.Asn38fs) rs1598854747
NM_000458.4(HNF1B):c.1118_1147del (p.Ala373_Gln383delinsGlu)
NM_000458.4(HNF1B):c.1119_1147del (p.Met374fs) rs1598815016
NM_000458.4(HNF1B):c.1132dup (p.Gln378fs) rs1057519371
NM_000458.4(HNF1B):c.1136C>A (p.Ser379Ter)
NM_000458.4(HNF1B):c.1138del (p.Val380fs)
NM_000458.4(HNF1B):c.1144C>T (p.Gln382Ter)
NM_000458.4(HNF1B):c.1206+1G>A
NM_000458.4(HNF1B):c.1206+1G>C
NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer) rs1555833144
NM_000458.4(HNF1B):c.1235dup (p.Val413fs) rs1598809747
NM_000458.4(HNF1B):c.1299del (p.Ile434fs)
NM_000458.4(HNF1B):c.1302del (p.Ile434_Met435insTer)
NM_000458.4(HNF1B):c.1339+1G>A
NM_000458.4(HNF1B):c.1360C>T (p.Gln454Ter)
NM_000458.4(HNF1B):c.1360_1361del (p.Gln454fs)
NM_000458.4(HNF1B):c.1363_1364del (p.Ser455fs)
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs) rs1598806177
NM_000458.4(HNF1B):c.1408C>T (p.Gln470Ter)
NM_000458.4(HNF1B):c.1429C>T (p.Gln477Ter)
NM_000458.4(HNF1B):c.143del (p.Leu48fs)
NM_000458.4(HNF1B):c.1517del (p.Gln506fs)
NM_000458.4(HNF1B):c.1561C>T (p.Gln521Ter)
NM_000458.4(HNF1B):c.1561dup (p.Gln521fs) rs764042837
NM_000458.4(HNF1B):c.1654-2A>T
NM_000458.4(HNF1B):c.18del (p.Ser7fs)
NM_000458.4(HNF1B):c.206_207del (p.His69fs)
NM_000458.4(HNF1B):c.207_211del (p.His69fs)
NM_000458.4(HNF1B):c.211_217del (p.Lys71fs)
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.230_233del (p.Asp77fs) rs1555833071
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
NM_000458.4(HNF1B):c.252del (p.Asp84fs)
NM_000458.4(HNF1B):c.280del (p.Glu94fs)
NM_000458.4(HNF1B):c.281_284dup (p.Gln96fs)
NM_000458.4(HNF1B):c.301G>T (p.Glu101Ter)
NM_000458.4(HNF1B):c.322del (p.Ala108fs)
NM_000458.4(HNF1B):c.324_340del (p.Glu109fs) rs1598854261
NM_000458.4(HNF1B):c.335G>C (p.Arg112Pro)
NM_000458.4(HNF1B):c.335_342del (p.Arg112fs)
NM_000458.4(HNF1B):c.344+1G>A
NM_000458.4(HNF1B):c.344+2T>C
NM_000458.4(HNF1B):c.345-1G>A
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.353del (p.Pro118fs)
NM_000458.4(HNF1B):c.356G>A (p.Trp119Ter)
NM_000458.4(HNF1B):c.374T>C (p.Ile125Thr)
NM_000458.4(HNF1B):c.386_392del (p.Met129fs)
NM_000458.4(HNF1B):c.391C>T (p.Gln131Ter)
NM_000458.4(HNF1B):c.398A>G (p.Asn133Ser)
NM_000458.4(HNF1B):c.3G>A (p.Met1Ile)
NM_000458.4(HNF1B):c.3G>T (p.Met1Ile)
NM_000458.4(HNF1B):c.406C>G (p.Gln136Glu)
NM_000458.4(HNF1B):c.406C>T (p.Gln136Ter)
NM_000458.4(HNF1B):c.406dup (p.Gln136fs) rs886041820
NM_000458.4(HNF1B):c.410_484del (p.Arg137_Lys161del)
NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter)
NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp)
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.457C>A (p.His153Asn)
NM_000458.4(HNF1B):c.466A>G (p.Lys156Glu)
NM_000458.4(HNF1B):c.46del (p.Leu16fs)
NM_000458.4(HNF1B):c.471del (p.Thr158fs)
NM_000458.4(HNF1B):c.472_473insTGCAGCCC (p.Thr158fs)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.478A>G (p.Met160Val)
NM_000458.4(HNF1B):c.484del (p.Thr162fs)
NM_000458.4(HNF1B):c.487del (p.Gln163fs)
NM_000458.4(HNF1B):c.490A>C (p.Lys164Gln)
NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)
NM_000458.4(HNF1B):c.499_504delinsCCCCT (p.Ala167fs) rs1598848672
NM_000458.4(HNF1B):c.505T>C (p.Tyr169His)
NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter)
NM_000458.4(HNF1B):c.522_525del (p.Arg174fs)
NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter)
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
NM_000458.4(HNF1B):c.534del (p.Ile179fs)
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
NM_000458.4(HNF1B):c.544+1G>A
NM_000458.4(HNF1B):c.544+1G>C
NM_000458.4(HNF1B):c.544+1G>T
NM_000458.4(HNF1B):c.544+2_544+3dup
NM_000458.4(HNF1B):c.544+2dup
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs)
NM_000458.4(HNF1B):c.70del (p.Glu24fs)
NM_000458.4(HNF1B):c.715G>C (p.Gly239Arg)
NM_000458.4(HNF1B):c.715_717del (p.Gly239del) rs1598842892
NM_000458.4(HNF1B):c.716G>A (p.Gly239Glu)
NM_000458.4(HNF1B):c.717del (p.Ala241fs)
NM_000458.4(HNF1B):c.717dup (p.Pro240fs) rs1598842892
NM_000458.4(HNF1B):c.719_720dup (p.Ala241fs) rs1598842886
NM_000458.4(HNF1B):c.727del (p.Gln243fs)
NM_000458.4(HNF1B):c.742C>T (p.Gln248Ter)
NM_000458.4(HNF1B):c.786_787dup (p.Ala263fs)
NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer)
NM_000458.4(HNF1B):c.809+1G>A
NM_000458.4(HNF1B):c.809+1G>T
NM_000458.4(HNF1B):c.810-2A>C
NM_000458.4(HNF1B):c.811_1045+1del
NM_000458.4(HNF1B):c.823C>T (p.Gln275Ter)
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
NM_000458.4(HNF1B):c.840del (p.Ser281fs)
NM_000458.4(HNF1B):c.840dup (p.Ser281fs) rs1598841082
NM_000458.4(HNF1B):c.850del (p.His284fs)
NM_000458.4(HNF1B):c.854G>A (p.Gly285Asp)
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
NM_000458.4(HNF1B):c.869T>A (p.Leu290Ter)
NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000458.4(HNF1B):c.931C>T (p.Gln311Ter)
NM_000458.4(HNF1B):c.949del (p.Ala317fs)
NM_000458.4(HNF1B):c.953dup (p.Tyr318Ter)
NM_000458.4(HNF1B):c.967dup (p.Thr323fs)
NM_000458.4(HNF1B):c.972_973del (p.His324fs)
NM_000458.4(HNF1B):c.982_986del (p.Pro328fs)
NM_000458.4(HNF1B):c.983del (p.Pro328fs)
NM_000551.4(VHL):c.475A>T (p.Lys159Ter) rs1575932011
NM_000807.4(GABRA2):c.881C>T (p.Thr294Ile)
NM_000860.6(HPGD):c.662+2T>A
NM_001005273.3(CHD3):c.5053C>T (p.Arg1685Ter) rs1971195837
NM_001032221.6(STXBP1):c.325+1G>A
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.480-2A>G rs1567820688
NM_001080517.3(SETD5):c.1125dup (p.Val376fs) rs1135401767
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001101.5(ACTB):c.351G>T (p.Glu117Asp) rs765265404
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001127222.2(CACNA1A):c.1851G>C (p.Leu617Phe)
NM_001127644.2(GABRA1):c.1200del (p.Lys401fs) rs879253748
NM_001145358.2(SIN3A):c.3118_3119del (p.Gln1040fs) rs1135401768
NM_001170629.2(CHD8):c.347del (p.Thr116fs) rs1135401763
NM_001197104.2(KMT2A):c.3334+1G>A rs1135401764
NM_001278432.2(N4BP2L2):c.1406dup (p.Asn469fs) rs1158061584
NM_001355436.2(SPTB):c.5506_5507insCGTCCAGCCCTTCCACC (p.Arg1836fs)
NM_001367721.1(CASK):c.68del (p.Phe23fs) rs1135401762
NM_001370100.5(ZMYND11):c.383del (p.Ser128fs) rs1135401771
NM_001371928.1(AHDC1):c.3814C>T (p.Arg1272Ter) rs1135401761
NM_001378902.1(ROS1):c.4583del (p.Asn1528fs) rs776274768
NM_001453.3(FOXC1):c.349del (p.Asp117fs) rs1554100953
NM_001453.3(FOXC1):c.409_411del (p.Val137del) rs1554100963
NM_001510.4(GRID2):c.568C>T (p.Gln190Ter) rs1732687174
NM_001873.4(CPE):c.361C>T (p.Arg121Ter) rs1317332155
NM_002556.3(OSBP):c.1519C>T (p.Arg507Ter) rs1565117343
NM_002645.4(PIK3C2A):c.1640+1G>T rs1565272952
NM_002695.5(POLR2E):c.233-2A>G rs1297383239
NM_002815.4(PSMD11):c.850-3_850del
NM_002878.4(RAD51D):c.357_360del (p.Cys119fs) rs876658297
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.319G>T (p.Val107Phe) rs587780562
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
NM_003491.4(NAA10):c.384T>A (p.Phe128Leu)
NM_003620.4(PPM1D):c.1288del (p.Arg429_Val430insTer)
NM_004656.4(BAP1):c.275C>T (p.Ala92Val)
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs) rs2099888710
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_006009.4(TUBA1A):c.1096G>A (p.Gly366Arg) rs1555162299
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.1112T>A (p.Val371Glu) rs1565626988
NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) rs587784482
NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val) rs587784482
NM_006009.4(TUBA1A):c.1160C>T (p.Ala387Val) rs1565626959
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His) rs1064796460
NM_006009.4(TUBA1A):c.1177C>T (p.His393Tyr) rs1555162288
NM_006009.4(TUBA1A):c.1186G>T (p.Asp396Tyr) rs1565626951
NM_006009.4(TUBA1A):c.1190T>C (p.Leu397Pro) rs137853048
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His) rs137853044
NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu) rs137853044
NM_006009.4(TUBA1A):c.1225G>A (p.Val409Ile) rs1565626928
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.1256C>T (p.Ser419Leu) rs137853047
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys) rs137853049
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) rs137853050
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) rs587784484
NM_006009.4(TUBA1A):c.1285G>C (p.Glu429Gln) rs1565626872
NM_006009.4(TUBA1A):c.1306G>C (p.Gly436Arg) rs1565626860
NM_006009.4(TUBA1A):c.1307G>A (p.Gly436Asp) rs1565626851
NM_006009.4(TUBA1A):c.161G>A (p.Ser54Asn) rs1565627740
NM_006009.4(TUBA1A):c.163G>A (p.Glu55Lys) rs1565627735
NM_006009.4(TUBA1A):c.167C>T (p.Thr56Met) rs1565627727
NM_006009.4(TUBA1A):c.175G>A (p.Gly59Ser) rs1565627712
NM_006009.4(TUBA1A):c.190C>T (p.Arg64Trp) rs1064794568
NM_006009.4(TUBA1A):c.209T>C (p.Leu70Ser) rs1565627684
NM_006009.4(TUBA1A):c.214C>T (p.Pro72Ser) rs1565627680
NM_006009.4(TUBA1A):c.215C>G (p.Pro72Arg) rs1565627677
NM_006009.4(TUBA1A):c.274C>G (p.Leu92Val) rs1565627548
NM_006009.4(TUBA1A):c.283G>T (p.Gly95Cys) rs1555162486
NM_006009.4(TUBA1A):c.302A>G (p.Asn101Ser) rs1565627526
NM_006009.4(TUBA1A):c.320A>G (p.His107Arg) rs1565627517
NM_006009.4(TUBA1A):c.337G>A (p.Glu113Lys) rs769889742
NM_006009.4(TUBA1A):c.352G>A (p.Val118Met) rs863224938
NM_006009.4(TUBA1A):c.352G>C (p.Val118Leu) rs863224938
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) rs886039513
NM_006009.4(TUBA1A):c.368G>A (p.Arg123His) rs1555162456
NM_006009.4(TUBA1A):c.381C>A (p.Asp127Glu) rs1565627390
NM_006009.4(TUBA1A):c.449C>T (p.Thr150Ile) rs1565627339
NM_006009.4(TUBA1A):c.473C>T (p.Ser158Leu) rs1565627324
NM_006009.4(TUBA1A):c.481T>C (p.Tyr161His) rs587784488
NM_006009.4(TUBA1A):c.4C>A (p.Arg2Ser) rs1565627805
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.562A>C (p.Ile188Leu) rs137853045
NM_006009.4(TUBA1A):c.599G>A (p.Cys200Tyr) rs1565627260
NM_006009.4(TUBA1A):c.629A>G (p.Tyr210Cys) rs1565627253
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006009.4(TUBA1A):c.652G>T (p.Asp218Tyr) rs1057517858
NM_006009.4(TUBA1A):c.703G>T (p.Val235Leu) rs1565627190
NM_006009.4(TUBA1A):c.74G>T (p.Cys25Phe) rs1565627777
NM_006009.4(TUBA1A):c.787C>A (p.Pro263Thr) rs137853046
NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly) rs137853043
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
NM_006009.4(TUBA1A):c.79G>C (p.Glu27Gln) rs1057521064
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) rs587784494
NM_006009.4(TUBA1A):c.908T>G (p.Val303Gly) rs1565627104
NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) rs1555162325
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His) rs1555162323
NM_006009.4(TUBA1A):c.978A>C (p.Lys326Asn) rs1565627058
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser) rs587784495
NM_006009.4(TUBA1A):c.998C>T (p.Ala333Val) rs1565627046
NM_006186.4(NR4A2):c.591_592del (p.Leu198fs)
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006231.4(POLE):c.51dup (p.Glu18fs) rs2136051965
NM_006237.4(POU4F1):c.115dup (p.Thr39fs)
NM_006268.5(DPF2):c.827G>T (p.Cys276Phe) rs1555031372
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter) rs905674348
NM_007294.4(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter) rs80357449
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007368.4(RASA3):c.892_895del (p.Asp298fs) rs746040003
NM_012274.2(H2AP):c.321_322del (p.Phe107fs) rs1569148952
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_014838.3(ZBED4):c.172C>T (p.Arg58Ter) rs1333906033
NM_014921.5(ADGRL1):c.3256dup (p.Val1086fs)
NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs) rs1135401779
NM_015335.5(MED13L):c.2399dup (p.Thr801fs) rs1135401766
NM_015335.5(MED13L):c.5173C>T (p.Gln1725Ter) rs1135401765
NM_015365.3(AMMECR1):c.454del (p.Arg152fs) rs1569405174
NM_015443.4(KANSL1):c.2020+1G>A
NM_016628.5(WAC):c.498-2A>G rs1135401769
NM_020884.5(MYH7B):c.1272_1273del (p.Ser425Cysfs) rs771172991
NM_021975.4(RELA):c.592C>T (p.Arg198Ter) rs1326268854
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_030665.4(RAI1):c.2329del (p.Asp777fs)
NM_030912.3(TRIM8):c.1200C>A (p.Tyr400Ter)
NM_031844.3(HNRNPU):c.245del (p.Gly82fs)
NM_033360.4(KRAS):c.440A>G (p.Lys147Arg) rs1135401776
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter) rs1270628305
NM_130839.5(UBE3A):c.779T>A (p.Leu260Ter)
NM_133450.4(ANKS3):c.1960dup (p.Arg654fs) rs1567280099
NM_134261.3(RORA):c.1069A>T (p.Lys357Ter)
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp) rs1131691936
NM_175635.3(RUNX1T1):c.66_67insT (p.Pro23fs) rs1563765580
NM_177433.3(MAGED2):c.262C>T (p.Gln88Ter)
NM_177438.3(DICER1):c.3150del (p.Ala1051fs)
NM_182641.4(BPTF):c.989del (p.Leu330fs) rs1135401778
NM_198510.3(ITIH6):c.2377C>T (p.Gln793Ter) rs761191483
NM_198880.3(QRICH1):c.1812_1813del (p.Glu605fs) rs2093252843
NM_201286.4(USP51):c.13C>T (p.Arg5Ter) rs1569197778
NM_205768.3(ZBTB18):c.142C>T (p.Arg48Ter) rs1135401770

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