ClinVar Miner

List of variants reported as pathogenic by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 342
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HGVS dbSNP gnomAD frequency
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) rs140950220 0.00033
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_147191.1(MMP21):c.643G>A (p.Glu215Lys) rs145789868 0.00014
NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter) rs145742175 0.00013
NM_001615.4(ACTG2):c.255+210C>A rs768290597 0.00012
NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln) rs573267388 0.00010
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn) rs137854544 0.00005
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_004667.6(HERC2):c.12801T>A (p.Asp4267Glu) rs373175587 0.00005
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) rs767982852 0.00005
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164 0.00005
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001199161.2(USP19):c.1572G>T (p.Glu524Asp) rs375659415 0.00003
NM_016026.4(RDH11):c.322C>T (p.Arg108Ter) rs606231424 0.00003
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter) rs201213030 0.00003
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) rs147816470 0.00002
NM_004187.5(KDM5C):c.3068A>G (p.Lys1023Arg) rs782367133 0.00002
NM_006736.6(DNAJB2):c.620-1G>A rs764813110 0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554 0.00002
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) rs137852704 0.00001
NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter) rs746612410 0.00001
NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter) rs943339467 0.00001
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter) rs121912501 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966 0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458 0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447 0.00001
NM_001330195.2(NRXN3):c.1315A>G (p.Lys439Glu) rs1057519451 0.00001
NM_001330195.2(NRXN3):c.3142+3A>G rs531047390 0.00001
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665 0.00001
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286 0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp) rs751163782 0.00001
NM_004371.4(COPA):c.698G>A (p.Arg233His) rs794727993 0.00001
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter) rs267607016 0.00001
NM_004608.4(TBX6):c.844C>T (p.Arg282Ter) rs201620629 0.00001
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) rs1114167292 0.00001
NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter) rs201785518 0.00001
NM_016026.4(RDH11):c.199C>T (p.Arg67Ter) rs606231423 0.00001
NM_016194.4(GNB5):c.375+3A>G rs766004901 0.00001
NM_017696.3(MCM9):c.394C>T (p.Arg132Ter) rs587777872 0.00001
NM_018076.5(ODAD2):c.1969C>T (p.Gln657Ter) rs868755574 0.00001
NM_024105.4(ALG12):c.117del (p.Gln40fs) rs761221480 0.00001
NM_032485.6(MCM8):c.925C>T (p.Arg309Ter) rs201115244 0.00001
NM_139278.4(LGI3):c.991G>A (p.Asp331Asn) rs1050199719 0.00001
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455 0.00001
GRCh37/hg19 18q11.1-11.2(chr18:18856932-19159898)x1
GRCh37/hg19 Xq22.1-22.2(chrX:100866604-103411980)x1
GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1
GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1
GRCh37/hg19 Xq22.2(chrX:102615641-103309503)x1
GRCh37/hg19 Xq22.2(chrX:102967297-103038606)x0
GRCh37/hg19 Xq22.2(chrX:103029773-103036548)x0
GRCh37/hg19 Xq22.2(chrX:103029773-103036548)x1
GRCh37/hg19 Xq26.3(chrX:135602028-136259908)x2
NC_000002.12:g.32063148_32067182del
NC_000002.12:g.32153843_32159343del
NC_000008.11:g.22146137_22152989del
NC_000023.10:g.36649710_136649711del100000002insG
NM_000117.3(EMD):c.188-6A>G rs2148128297
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter) rs111033806
NM_000158.4(GBE1):c.1861CTT[1] (p.Leu622del) rs1576137368
NM_000168.6(GLI3):c.1673C>A (p.Ser558Ter) rs1356013382
NM_000170.3(GLDC):c.2177T>A (p.Leu726Gln) rs1114167353
NM_000278.5(PAX2):c.76del (p.Val26fs) rs75462234
NM_000308.4(CTSA):c.833_834del (p.Tyr278fs) rs875989777
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000458.4(HNF1B):c.1132dup (p.Gln378fs) rs1057519371
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr) rs74315474
NM_000503.6(EYA1):c.966+5G>A rs606231357
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) rs1114167287
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) rs864309706
NM_000554.6(CRX):c.660del (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.661del (p.Tyr221fs) rs864309708
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn) rs782596945
NM_001008537.3(NEXMIF):c.3244C>T (p.Gln1082Ter) rs2080102486
NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter) rs1114167289
NM_001017979.3(RAB28):c.172+1G>C rs875989778
NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) rs879255557
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) rs1602330420
NM_001037.5(SCN1B):c.308A>T (p.Asp103Val) rs1057519457
NM_001037161.2(ACOT1):c.410_423del (p.Glu137fs) rs1057519450
NM_001039803.3(CDK20):c.564G>A (p.Trp188Ter) rs1057519438
NM_001098.3(ACO2):c.2338_2339del (p.Gln780fs) rs1114167284
NM_001099433.2(JAKMIP1):c.1756G>C (p.Asp586His) rs1114167350
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001127671.2(LIFR):c.274C>T (p.Gln92Ter) rs1580117891
NM_001142416.2(AIMP1):c.334C>T (p.Gln112Ter) rs879253867
NM_001142966.3(GREB1L):c.3146+1G>A
NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter) rs2146025908
NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs)
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu) rs113993956
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp) rs1057517686
NM_001197104.2(KMT2A):c.2233C>T (p.Arg745Ter) rs727503777
NM_001199107.2(TBC1D24):c.1206+5G>A rs398122968
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu) rs201257588
NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe) rs797044548
NM_001199161.2(USP19):c.1660G>T (p.Val554Leu) rs1057519452
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_001267550.2(TTN):c.2370+2T>C rs1574817395
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter) rs1200988060
NM_001330311.2(DVL1):c.1580_1592del (p.His527fs) rs797044834
NM_001330311.2(DVL1):c.1583del (p.Pro528fs) rs797044836
NM_001330311.2(DVL1):c.1594del (p.Trp532fs) rs797044835
NM_001330311.2(DVL1):c.1598del (p.Pro533fs) rs869025220
NM_001330311.2(DVL1):c.1604del (p.Gly535fs) rs797044838
NM_001330311.2(DVL1):c.1631del (p.Gly544fs) rs1643645439
NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs) rs797044833
NM_001330311.2(DVL1):c.1667del (p.Pro556fs) rs2100714986
NM_001330311.2(DVL1):c.1690del (p.Ser564fs) rs797044837
NM_001330311.2(DVL1):c.1731del (p.Ser578fs) rs1553172962
NM_001348800.3(ZBTB20):c.1786C>T (p.His596Tyr) rs1057519435
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.5(DDX3X):c.192dup (p.Asp65fs) rs1057519431
NM_001356.5(DDX3X):c.362G>T (p.Arg121Leu) rs1057519446
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_001371928.1(AHDC1):c.1402dup (p.Cys468fs) rs869312858
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs) rs587779766
NM_001371928.1(AHDC1):c.2547del (p.Ser850fs) rs587779768
NM_001371928.1(AHDC1):c.2898del (p.Tyr967fs) rs587779767
NM_001374828.1(ARID1B):c.2516_2518delinsTCCGCAGCCACTCC (p.Pro839fs) rs879253856
NM_001374828.1(ARID1B):c.3151C>T (p.Gln1051Ter) rs879253747
NM_001374828.1(ARID1B):c.3577_3578del (p.Lys1193fs) rs879253745
NM_001374828.1(ARID1B):c.4642dup (p.Tyr1548fs) rs879253746
NM_001375380.1(EBF3):c.512G>A (p.Gly171Asp) rs1057519437
NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del) rs1555621138
NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro) rs1057519453
NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg) rs1114167290
NM_001421.4(ELF4):c.560C>A (p.Thr187Asn)
NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) rs1568105666
NM_001466.4(FZD2):c.367_388dup (p.Phe130fs) rs2144572390
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) rs587777385
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001615.4(ACTG2):c.134T>C (p.Met45Thr) rs864309490
NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly) rs864309491
NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn) rs587777388
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) rs78001248
NM_001615.4(ACTG2):c.533G>A (p.Arg178His) rs587777384
NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp) rs864309492
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_002114.4(HIVEP1):c.4089G>C (p.Met1363Ile) rs776300630
NM_002180.3(IGHMBP2):c.1346del (p.Met449fs) rs879253865
NM_002185.5(IL7R):c.361dup (p.Ile121fs) rs869312857
NM_002336.3(LRP6):c.3398-2A>C rs869320636
NM_002336.3(LRP6):c.4593del (p.Cys1532fs) rs869320635
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003239.5(TGFB3):c.171del (p.Glu58fs) rs1594792466
NM_003289.4(TPM2):c.620_631dup (p.Gln210_Ala211insValGluAlaGln) rs1587956195
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003394.4(WNT10B):c.741del (p.Lys246_Cys247insTer) rs2137611223
NM_003413.4(ZIC3):c.128C>A (p.Ser43Ter) rs1569345504
NM_003413.4(ZIC3):c.593_609del (p.Pro198fs) rs1569345742
NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter) rs104894960
NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter) rs1203069392
NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser) rs122463167
NM_003482.4(KMT2D):c.10252G>T (p.Glu3418Ter) rs1114167348
NM_003490.4(SYN3):c.1444_1445delinsTT (p.Pro482Leu) rs1057519444
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_003995.4(NPR2):c.1087C>T (p.Arg363Ter) rs767258629
NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter) rs1574724863
NM_004369.4(COL6A3):c.7720del (p.Leu2574fs) rs1574942920
NM_004370.6(COL12A1):c.1488dup (p.Phe497fs) rs1582196903
NM_004371.4(COPA):c.690G>T (p.Lys230Asn) rs864309710
NM_004371.4(COPA):c.721G>A (p.Glu241Lys) rs794727995
NM_004371.4(COPA):c.728A>G (p.Asp243Gly) rs794727994
NM_004423.4(DVL3):c.1585del (p.Ala529fs) rs869025215
NM_004423.4(DVL3):c.1715-1G>A rs869025217
NM_004423.4(DVL3):c.1715-2A>G rs869025216
NM_004423.4(DVL3):c.1716del (p.Ser573fs) rs869025218
NM_004423.4(DVL3):c.1749del (p.Ser583fs) rs869025219
NM_004423.4(DVL3):c.1751_1754del (p.Asp584fs) rs1577052785
NM_004463.3(FGD1):c.1422del (p.Phe474fs) rs2147432826
NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer) rs2147436223
NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter) rs1308509155
NM_004560.4(ROR2):c.2T>G (p.Met1Arg) rs2118126851
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter) rs121909087
NM_004560.4(ROR2):c.613C>T (p.Arg205Ter) rs121909086
NM_004560.4(ROR2):c.675del (p.Gln225fs) rs2118702517
NM_004560.4(ROR2):c.79_80del (p.Ser29fs) rs2118125646
NM_004560.4(ROR2):c.990del (p.Thr331fs) rs1837228121
NM_004608.4(TBX6):c.1169dup (p.His391fs) rs879253776
NM_004608.4(TBX6):c.1179_1180del (p.Gly395fs) rs879253857
NM_004608.4(TBX6):c.1250dup (p.Leu419fs) rs786204039
NM_004608.4(TBX6):c.266dup (p.Val91fs) rs786204040
NM_004608.4(TBX6):c.704dup (p.Met236fs) rs758051786
NM_004750.5(CRLF1):c.985dup (p.Glu329fs) rs1600650861
NM_004826.4(ECEL1):c.1147C>T (p.Gln383Ter) rs1190799930
NM_004826.4(ECEL1):c.1581+1G>A rs1575076514
NM_004826.4(ECEL1):c.505_529del (p.Gly169fs) rs767987856
NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser) rs1057519441
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu) rs2147577404
NM_005032.7(PLS3):c.617C>T (p.Ala206Val) rs2147551760
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter) rs1574643342
NM_005445.4(SMC3):c.2536-5_2541del rs727503775
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) rs587777275
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) rs587777274
NM_005654.6(NR2F1):c.413G>A (p.Cys138Tyr) rs1057519434
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) rs1057518739
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) rs1057518740
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006096.4(NDRG1):c.389+92_594+1717dup
NM_006306.4(SMC1A):c.121C>T (p.Leu41Phe) rs727503776
NM_006306.4(SMC1A):c.2974-2A>G rs727503774
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) rs727503773
NM_006421.5(ARFGEF1):c.2524C>T (p.Gln842Ter) rs1840507738
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006659.4(TUBGCP2):c.2025-2A>G rs1589822227
NM_007074.3(CORO1A):c.[1078delC];[248_249delCT]
NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) rs1114167291
NM_013275.6(ANKRD11):c.6793del (p.Ala2265fs) rs2151733504
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014795.4(ZEB2):c.3146A>C (p.His1049Pro) rs1114167349
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.4(MFN2):c.730G>T (p.Val244Leu) rs879253777
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014946.4(SPAST):c.-112_415+1779del
NM_014946.4(SPAST):c.1099-1062_1246-1342del
NM_014946.4(SPAST):c.1099-956_1246-1672del
NM_014946.4(SPAST):c.1174-270_1246-1724dup
NM_014946.4(SPAST):c.1246-2897_1493+523dup
NM_014946.4(SPAST):c.1494-1393_1688-466dup
NM_014946.4(SPAST):c.1688-378_1728+1541del
NM_014946.4(SPAST):c.1729-3331_*1641del
NM_014946.4(SPAST):c.1729-884_*1715del
NM_014946.4(SPAST):c.683-1277_870+399del
NM_014946.4(SPAST):c.683-7033_1004+30del
NM_014946.4(SPAST):c.690_1099-4223del
NM_014946.4(SPAST):c.871-368_1098+4142del
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter) rs879253866
NM_015047.3(EMC1):c.1411G>C (p.Gly471Arg) rs879253819
NM_015100.4(POGZ):c.2321_2324del (p.Ser774fs) rs864321671
NM_015100.4(POGZ):c.2763dup (p.Thr922fs) rs864321672
NM_015100.4(POGZ):c.2780dup (p.Leu927fs) rs864321675
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015100.4(POGZ):c.833C>G (p.Ser278Ter) rs864321673
NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp) rs1057519454
NM_015166.4(MLC1):c.617G>T (p.Gly206Val) rs1114167286
NM_015599.3(PGM3):c.1352A>G (p.Gln451Arg) rs587777565
NM_015599.3(PGM3):c.715G>C (p.Asp239His) rs869312886
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015599.3(PGM3):c.737dup (p.Asn246fs) rs587777564
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) rs373730800
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter) rs749597091
NM_016556.4(PSMC3IP):c.614del (p.Glu205fs) rs1597722169
NM_016562.4(TLR7):c.1521T>G (p.Phe507Leu) rs2147245859
NM_017780.4(CHD7):c.2442+2449_2498+259del
NM_017827.4(SARS2):c.1042T>C (p.Phe348Leu) rs1114167285
NM_018076.5(ODAD2):c.2014G>T (p.Glu672Ter) rs771920114
NM_018076.5(ODAD2):c.2495+1G>A rs879253744
NM_018076.5(ODAD2):c.2675C>A (p.Ser892Ter) rs587777049
NM_018076.5(ODAD2):c.2712del (p.Ile905fs) rs587777048
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp) rs587777047
NM_018076.5(ODAD2):c.382+995_936+335del
NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile) rs1057519440
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu) rs1057519439
NM_019026.6(TMCO1):c.323+3G>C rs372701032
NM_020751.3(COG6):c.726del (p.Cys242fs) rs1593421620
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter) rs150331292
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs) rs753460205
NM_022095.4(ZNF335):c.3787G>T (p.Glu1263Ter) rs749190523
NM_022455.5(NSD1):c.6537dup (p.Ser2180fs) rs879253860
NM_022463.5(NXN):c.817C>T (p.Gln273Ter) rs1912687309
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs) rs879253859
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter) rs267607093
NM_024989.4(PGAP1):c.274_276del (p.Pro92del) rs869025579
NM_024989.4(PGAP1):c.921_925del (p.Lys308fs) rs869025580
NM_030662.4(MAP2K2):c.210_212del (p.Asp71del) rs1114167351
NM_032141.4(NSRP1):c.1272dup (p.Lys425fs) rs1485203990
NM_032141.4(NSRP1):c.1359_1362del (p.Glu455fs) rs2143011593
NM_032141.4(NSRP1):c.52C>T (p.Gln18Ter) rs2151869859
NM_033066.3(MPP4):c.946T>C (p.Trp316Arg) rs1057519443
NM_052867.4(NALCN):c.1639A>G (p.Met547Val) rs1057519432
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr) rs1057519433
NM_133433.4(NIPBL):c.1808del (p.Lys603fs) rs727503767
NM_133433.4(NIPBL):c.2149_2150del (p.Lys717fs) rs727503766
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.5214dup (p.Ser1739Ter) rs730880331
NM_133433.4(NIPBL):c.64+1G>A rs587784009
NM_133433.4(NIPBL):c.65-3T>G rs727503768
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) rs727503772
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.7903_7940del (p.Glu2635fs) rs727503771
NM_133433.4(NIPBL):c.914C>A (p.Ser305Ter) rs727503770
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser) rs1057519442
NM_138425.4(C12orf57):c.53-2A>G rs1114167293
NM_138615.3(DHX30):c.1478G>A (p.Arg493His) rs1057519436
NM_138615.3(DHX30):c.1685A>G (p.His562Arg) rs1060499733
NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp) rs753242774
NM_139276.3(STAT3):c.1032G>C (p.Gln344His) rs869312887
NM_139276.3(STAT3):c.1057G>T (p.Val353Phe) rs869312891
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.3(STAT3):c.1260T>G (p.Asn420Lys) rs869312893
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1988C>T (p.Thr663Ile) rs869312889
NM_139276.3(STAT3):c.2107G>A (p.Ala703Thr) rs869312894
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) rs869312892
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp) rs869312890
NM_139278.4(LGI3):c.102dup (p.Lys35fs) rs749644081
NM_139278.4(LGI3):c.1117del (p.Trp373fs) rs2131791254
NM_139278.4(LGI3):c.335C>A (p.Ser112Ter) rs769376680
NM_139278.4(LGI3):c.422T>A (p.Leu141His) rs2131796689
NM_139278.4(LGI3):c.494+1G>C rs1827450545
NM_139278.4(LGI3):c.830-1G>A rs2131791741
NM_139278.4(LGI3):c.937del (p.Thr313fs) rs2131791567
NM_139315.3(TAF6):c.136C>T (p.Arg46Cys) rs727503778
NM_145030.4(PPP1R35):c.753_*3delinsCG (p.Trp251fs)
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter) rs875989782
NM_177438.3(DICER1):c.4050+1G>A rs875989783
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs) rs875989784
NM_177438.3(DICER1):c.4633dup (p.Ser1545fs) rs875989781
NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter) rs875989779
NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter) rs875989780
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro) rs1057519449
NM_178172.6(GPIHBP1):c.331A>C (p.Thr111Pro) rs587777641
NM_178172.6(GPIHBP1):c.417_433del (p.Pro140fs) rs587777642
NM_181336.4(LEMD2):c.38T>G (p.Leu13Arg) rs878852983
NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg) rs556808514
NM_203290.4(POLR1C):c.614del (p.Gly205fs) rs1057519456
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283
Single allele
TM4SF20, 4-KB DEL

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