ClinVar Miner

List of variants reported as pathogenic by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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ClinVar version:
Total variants: 385
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HGVS dbSNP gnomAD frequency
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_016343.4(CENPF):c.4999C>T (p.Arg1667Ter) rs375014198 0.00008
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847 0.00004
NM_032316.3(NICN1):c.*2328C>T rs386833677 0.00004
NM_001160372.4(TRAPPC9):c.2809C>T (p.Arg937Ter) rs889624353 0.00003
NM_001931.5(DLAT):c.976-1G>A rs367875541 0.00003
NM_015087.5(SPART):c.1369C>T (p.Arg457Ter) rs200373703 0.00003
NM_017807.4(OSGEP):c.974G>A (p.Arg325Gln) rs753237335 0.00003
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678 0.00002
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196 0.00002
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter) rs746612410 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_002693.3(POLG):c.1252T>C (p.Cys418Arg) rs758112770 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_005121.3(MED13):c.5683_5684del (p.Met1895fs) rs750570850 0.00001
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val) rs1277383877 0.00001
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_145207.3(AFG2A):c.1333C>T (p.Arg445Ter) rs879782394 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_000110.4(DPYD):c.1379dup (p.Leu461fs) rs779948148
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000188.3(HK1):c.1240G>A (p.Gly414Arg) rs2132871580
NM_000192.3:c.(362+1_363-1)_(*1602_?)del
NM_000192.3:c.(362+1_363-1)_(510+1_511-1)del
NM_000192.3:c.(510+1_511-1)_(663+1_664-1)del
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)del
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)dup
NM_000192.3:c.(982+1_983-1)_(*1602_?)del
NM_000192.3:c.(?_-38)_(242+1_243-1)dup
NM_000192.3:c.(?_-667)_(*1602_?)del
NM_000192.3:c.(?_-667)_(755+1_756-1)dup
NM_000192.3:c.1033_1034dupGA
NM_000192.3:c.67_81delins
NM_000192.3:c.946C>T
NM_000194.3:c.-147_384del
NM_000284.4(PDHA1):c.499G>A (p.Val167Met) rs2063174067
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000391.4(TPP1):c.89+1G>A rs1855631590
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter) rs587784241
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter) rs104894054
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000546.6(TP53):c.1077del (p.Ser362fs) rs1555524370
NM_000814.6(GABRB3):c.901C>T (p.Pro301Ser) rs1889966666
NM_000834.5(GRIN2B):c.3702_3705dup (p.Arg1236fs) rs1948581537
NM_001003694.2(BRPF1):c.1313del (p.Val438fs) rs2076997522
NM_001003694.2(BRPF1):c.1775dup (p.Arg593fs) rs2125504267
NM_001003694.2(BRPF1):c.2311+1G>A rs2077062359
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His) rs2111857835
NM_001029896.2(WDR45):c.510dup (p.Leu171fs) rs2065033946
NM_001029896.2(WDR45):c.55+2_55+3del rs1057519622
NM_001031710.3(KLHL7):c.1268A>G (p.His423Arg) rs1583733628
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs) rs606231193
NM_001038.6(SCNN1A):c.1579TTC[1] (p.Phe528del) rs61759913
NM_001040142.2(SCN2A):c.3697G>T (p.Glu1233Ter) rs1057519617
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
NM_001042537:c.916delC
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs) rs1057519396
NM_001080517.3(SETD5):c.1744_1745del (p.Ser582fs) rs2042128326
NM_001080517.3(SETD5):c.2386dup (p.Thr796fs) rs2042902664
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter) rs2045524028
NM_001080517.3(SETD5):c.345dup (p.Lys116fs) rs2040365404
NM_001083619.3(GRIA2):c.258del (p.Val85_Tyr86insTer) rs2126866545
NM_001083962.2(TCF4):c.922+1G>T rs2059973359
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001101.5(ACTB):c.217C>T (p.His73Tyr) rs786205585
NM_001110792.2(MECP2):c.1147dup (p.His383fs) rs1057519404
NM_001110792.2(MECP2):c.1170_1183del (p.Val392fs) rs2148660771
NM_001110792.2(MECP2):c.1195_1202del (p.Pro399fs) rs2148660481
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.726del (p.Gly244fs) rs1064793576
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001111125.3(IQSEC2):c.1613dup (p.Pro539fs) rs2147102426
NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs) rs1569290954
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys) rs1445802934
NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter) rs2141540759
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs) rs2105983330
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys) rs121918784
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr) rs1057518325
NM_001165963.4(SCN1A):c.3550+2T>G rs1574068971
NM_001170629.2(CHD8):c.2841_2845delinsATC (p.Asp948fs) rs2139478486
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter) rs1555318552
NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln) rs121912586
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.97C>T (p.Gln33Ter) rs1928479952
NM_001190274.2(FBXO11):c.2700_2703del (p.Ala902fs) rs1670357007
NM_001197104.2(KMT2A):c.11031del (p.Ser3678fs)
NM_001197104.2(KMT2A):c.4246G>T (p.Glu1416Ter) rs1555040446
NM_001197104.2(KMT2A):c.4696+1G>A rs1057519407
NM_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001197104.2(KMT2A):c.517C>T (p.Arg173Ter) rs1555035511
NM_001197104.2(KMT2A):c.5822del (p.Lys1941fs) rs2134366416
NM_001197104.2(KMT2A):c.6002_6005del (p.Phe2001fs) rs1057519408
NM_001197104.2(KMT2A):c.8270dup (p.Ile2758fs)
NM_001197104.2(KMT2A):c.9519_9520del (p.Gln3173_Ser3174insTer) rs2134406005
NM_001197104.2(KMT2A):c.9839C>A (p.Ser3280Ter) rs1950569353
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001256182:c.7545delG
NM_001271.4(CHD2):c.1153+3_1153+19del rs2141791104
NM_001271.4(CHD2):c.2767dup (p.Glu923fs) rs2141844219
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.280C>T (p.Arg94Cys) rs1186714720
NM_001282531.3(ADNP):c.898dup (p.Ser300fs) rs2122759209
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001303052.2(MYT1L):c.1516T>C (p.Cys506Arg) rs2052983721
NM_001303052.2(MYT1L):c.591C>G (p.Tyr197Ter) rs528530098
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) rs1602510200
NM_001321075.3(DLG4):c.1412G>A (p.Trp471Ter) rs2142830996
NM_001321075.3(DLG4):c.1697del (p.Thr566fs) rs2142822298
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001330288.2(SMARCC2):c.326dup (p.Tyr109Ter) rs2135750656
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.205C>T (p.Gln69Ter) rs1555977171
NM_001347721.2(DYRK1A):c.270_274del (p.Leu91fs) rs1057519402
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001348323.3(TRIP12):c.4302_4303del (p.Tyr1435fs) rs2154259932
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001356.5(DDX3X):c.119C>G (p.Pro40Arg) rs1064793858
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp) rs2063923749
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs) rs2063876393
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg) rs2063876594
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001371928.1(AHDC1):c.3756del (p.Ala1253fs) rs2148265469
NM_001371928.1(AHDC1):c.4423del (p.Arg1475fs) rs2019248120
NM_001372044.2(SHANK3):c.3867dup (p.Thr1290fs) rs2083287955
NM_001372044.2(SHANK3):c.4254_4255del (p.Ser1418fs) rs1057519395
NM_001372044.2(SHANK3):c.4835_4839dup (p.Leu1615fs) rs2146843340
NM_001372044.2(SHANK3):c.5107C>A (p.Arg1703Ser) rs2083360139
NM_001374828.1(ARID1B):c.3345G>C (p.Lys1115Asn) rs1583451360
NM_001374828.1(ARID1B):c.5840del (p.Gly1947fs) rs2128393408
NM_001375380.1(EBF3):c.481T>A (p.Cys161Ser) rs1859258788
NM_001376.5(DYNC1H1):c.3781T>G (p.Trp1261Gly) rs879253961
NM_001376.5(DYNC1H1):c.8234C>A (p.Thr2745Lys) rs2152583773
NM_001378418.1(TCF20):c.2224C>T (p.Arg742Ter) rs1555926209
NM_001378418.1(TCF20):c.3119C>G (p.Ser1040Ter) rs2147207397
NM_001378418.1(TCF20):c.4982_4985del (p.Val1661fs) rs1920933220
NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met) rs2106492941
NM_001379110.1(SLC9A6):c.726del (p.Ala243fs) rs1057519394
NM_001429.4(EP300):c.2164dup (p.Gln722fs) rs879253873
NM_001493.3(GDI1):c.1060_1064del (p.Ser354fs) rs2068755805
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His) rs1555666392
NM_001673.5(ASNS):c.182C>T (p.Pro61Leu) rs2115753664
NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter) rs794729667
NM_001904.4(CTNNB1):c.1487_1494del (p.Lys496fs) rs2125640691
NM_002074.5(GNB1):c.229G>T (p.Gly77Cys) rs758432471
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002430.3(MN1):c.3744G>A (p.Trp1248Ter) rs1297805962
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002971.6(SATB1):c.1876_1978del (p.Pro626fs) rs2125122990
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.101G>T (p.Gly34Val) rs387907305
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_003042.4(SLC6A1):c.404G>A (p.Trp135Ter) rs1697263091
NM_003106.4(SOX2):c.329A>C (p.Tyr110Ser) rs2108522189
NM_003394.4(WNT10B):c.817del (p.Ala273fs)
NM_003394.4(WNT10B):c.817dup (p.Ala273fs)
NM_003482.4(KMT2D):c.10552C>T (p.Gln3518Ter) rs2120454881
NM_003482.4(KMT2D):c.2544del (p.Glu848fs) rs2120663922
NM_003482.4(KMT2D):c.4168del (p.Ala1390fs) rs756471180
NM_003482.4(KMT2D):c.538_539insA (p.Ala180fs) rs1938253506
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003620.4(PPM1D):c.1262dup (p.Leu422fs) rs2143730785
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys) rs886037836
NM_004187.5(KDM5C):c.2622+2dup rs1057519393
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) rs397516892
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004380.3(CREBBP):c.3779+1G>C rs587783483
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs) rs2051830234
NM_004444.5(EPHB4):c.2011T>C (p.Phe671Leu) rs2116431707
NM_004463.3(FGD1):c.1327C>T (p.Arg443Cys) rs2147434008
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys) rs1064794694
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)
NM_004523.4(KIF11):c.934C>T (p.Arg312Ter) rs2135905068
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) rs2051507892
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) rs28939714
NM_004551.3(NDUFS3):c.473_474del (p.Ser158fs) rs2153795389
NM_004655.4(AXIN2):c.-12_8del (p.Met1fs) rs768265778
NM_004655.4(AXIN2):c.1928_1941del (p.Ala643fs) rs2144443827
NM_004655.4(AXIN2):c.1989G>A (p.Trp663Ter) rs730882193
NM_004655.4(AXIN2):c.2086C>T (p.Gln696Ter) rs2043915274
NM_004655.4(AXIN2):c.2092G>T (p.Glu698Ter) rs2144440026
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) rs587777848
NM_004975.4(KCNB1):c.968C>T (p.Thr323Ile) rs1569017257
NM_005105.5(RBM8A):c.-19G>T rs760383043
NM_005105.5(RBM8A):c.205+3_205+6del rs1648185461
NM_005105.5(RBM8A):c.206-13C>A rs1350809730
NM_005121.3(MED13):c.4191+1G>A rs2143386698
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) rs267606826
NM_005402.4(RALA):c.470C>T (p.Ser157Phe) rs2116098893
NM_005618.4(DLL1):c.386_387del (p.Thr129fs) rs2114964680
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005654.6(NR2F1):c.704G>T (p.Arg235Leu) rs2149943041
NM_005676.5(RBM10):c.292C>T (p.Arg98Ter) rs1556772860
NM_005859.5(PURA):c.178G>T (p.Glu60Ter) rs1763041722
NM_005859.5(PURA):c.459dup (p.Lys154fs) rs1763047286
NM_006015.6(ARID1A):c.3061A>G (p.Lys1021Glu) rs2081052495
NM_006015.6(ARID1A):c.3197_3198insAA (p.Val1067fs) rs2081053573
NM_006086.4(TUBB3):c.577G>A (p.Val193Met) rs2030404834
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006236.3(POU3F3):c.967G>T (p.Glu323Ter) rs2104340954
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala) rs1064794719
NM_006306.4(SMC1A):c.1388_1389insC (p.Glu464fs) rs1057519398
NM_006306.4(SMC1A):c.2122del (p.Leu708fs) rs2146599339
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.844C>T (p.Gln282Ter) rs1057521066
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006734.4(HIVEP2):c.476_477del (p.Asn159fs) rs2114664519
NM_006766.5(KAT6A):c.1663del (p.Gln555fs) rs1822554467
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter) rs768856558
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1685del (p.Pro562fs) rs1057519405
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) rs1060503386
NM_006772.3(SYNGAP1):c.1908_1909del (p.Ser637fs) rs1057519400
NM_006772.3(SYNGAP1):c.3179del (p.Gly1060fs) rs1581996813
NM_006852.6(TLK2):c.1550+1G>A rs2147105351
NM_006908.5(RAC1):c.116A>G (p.Asn39Ser)
NM_006914.4(RORB):c.423T>G (p.Tyr141Ter) rs149294914
NM_006940.4:c.482_810del
NM_006940.6(SOX5):c.1678A>G (p.Met560Val) rs1591908609
NM_007118.4(TRIO):c.5203+1_5203+2dup rs1749983541
NM_007327.4(GRIN1):c.1921A>T (p.Met641Leu) rs2131299136
NM_007363.5(NONO):c.201_202dup (p.Lys68fs) rs2148033408
NM_007363.5(NONO):c.279_282del (p.Phe94fs) rs2148033495
NM_007363.5(NONO):c.710del (p.Pro237fs) rs2148038538
NM_012280.4(FTSJ1):c.256del (p.Val86fs) rs2061548936
NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter) rs772229371
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs) rs2034464059
NM_013275.6(ANKRD11):c.5504del (p.Leu1835fs) rs1057519399
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter) rs763407068
NM_013275.6(ANKRD11):c.7103_7106del (p.Arg2368fs) rs2033967776
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.2142_2143del (p.Leu715fs) rs2149876810
NM_014795.4(ZEB2):c.2958_2961del (p.Ser987fs) rs1703231612
NM_014795.4(ZEB2):c.331+1G>T rs1703742764
NM_014991.6(WDFY3):c.2459_2460del (p.Pro820fs) rs1750979319
NM_014991.6(WDFY3):c.4063-1G>T rs2149494307
NM_015001.3(SPEN):c.6006dup (p.Glu2003Ter) rs2148740780
NM_015021.3(ZNF292):c.2291dup (p.Tyr764Ter) rs2127859550
NM_015100.4(POGZ):c.2433-2A>T rs1653770239
NM_015215.4(CAMTA1):c.4767del (p.Lys1589fs) rs754008719
NM_015335.5(MED13L):c.329G>A (p.Trp110Ter) rs2137899543
NM_015335.5(MED13L):c.4452del (p.Phe1484fs) rs1555243582
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs) rs1555243059
NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter) rs2137223723
NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter) rs1569337452
NM_015443.4(KANSL1):c.1110del (p.Phe370_Leu371insTer) rs2147733170
NM_015559.3(SETBP1):c.1190C>A (p.Ser397Ter) rs2071318911
NM_015898.4(ZBTB7A):c.1466_1496del (p.Gly489fs) rs2144973210
NM_015937.6(PIGT):c.910dup (p.Tyr304fs) rs2145450794
NM_016269.5(LEF1):c.1042TAT[1] (p.Tyr349del) rs2126274969
NM_016269.5(LEF1):c.544del (p.Gln182fs) rs2110266987
NM_016284.5(CNOT1):c.3562G>T (p.Asp1188Tyr) rs2151924068
NM_016284.5(CNOT1):c.4321G>A (p.Ala1441Thr) rs2151918356
NM_016343.4(CENPF):c.8786C>G (p.Ser2929Ter) rs2102419503
NM_016373.4(WWOX):c.1129AAC[1] (p.Asn378del) rs1567625065
NM_016373.4(WWOX):c.1171G>T (p.Glu391Ter) rs375757102
NM_016604.4(KDM3B):c.3046C>T (p.Gln1016Ter) rs2126959971
NM_016628.5(WAC):c.1746+2T>C rs2132863198
NM_017934.7(PHIP):c.2305_2306insGA (p.Pro769fs) rs1769197412
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018082.6(POLR3B):c.2774C>A (p.Pro925Gln) rs775141057
NM_018297.4(NGLY1):c.710T>C (p.Phe237Ser) rs2125485574
NM_018489.3(ASH1L):c.5502dup (p.Leu1835fs) rs1662293206
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs) rs1674480467
NM_020771.4(HACE1):c.355G>T (p.Glu119Ter) rs2115167557
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_022168.4(IFIH1):c.1850T>C (p.Ile617Thr) rs2105197765
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter) rs587784077
NM_022455.5(NSD1):c.2636_2637del (p.Ser879fs) rs1554189720
NM_022455.5(NSD1):c.3271dup (p.Leu1091fs) rs1763353656
NM_022455.5(NSD1):c.3548_3549insG (p.Ser1183_Glu1184insTer) rs878855075
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp) rs1760069281
NM_022893.4(BCL11A):c.1078dup (p.Leu360fs) rs768799046
NM_024821.5(CCDC134):c.2T>C (p.Met1Thr)
NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter) rs1006839535
NM_025074.7(FRAS1):c.11897dup (p.Asn3967fs) rs1560433104
NM_030632.3(ASXL3):c.5819del (p.Gly1940fs) rs2145433524
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031844.3(HNRNPU):c.551del (p.Ala184fs) rs2102990567
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032490.5(GON7):c.21C>A (p.Tyr7Ter) rs1218573239
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_052867.4(NALCN):c.2435dup (p.Glu813fs) rs1594218864
NM_057175.5(NAA15):c.1027G>T (p.Glu343Ter) rs2110941169
NM_078480.3(PUF60):c.284_285del (p.Leu95fs) rs1817027997
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_078480.3(PUF60):c.712_713del (p.Ser238fs) rs1816555365
NM_078480.3(PUF60):c.746_747insCACAC (p.Gly250fs) rs1816551992
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer) rs863225068
NM_133330.3(NSD2):c.1676_1679del rs1553873247
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152564.5(VPS13B):c.1418del (p.Ser473fs)
NM_152564.5(VPS13B):c.8070del (p.Gln2691fs) rs1813589674
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_170606.3(KMT2C):c.12415C>T (p.Arg4139Ter) rs2091742405
NM_170606.3(KMT2C):c.6449del (p.Gly2150fs) rs2129119932
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile) rs2080906453
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) rs796052657
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn) rs2082232988
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys) rs796052626
NM_172107.4(KCNQ2):c.807G>T (p.Trp269Cys) rs118192208
NM_177559.3(CSNK2A1):c.466G>C (p.Asp156His) rs1568512728
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_181486.4(TBX5):c.1045G>T (p.Glu349Ter) rs1565923887
NM_181486.4(TBX5):c.1074del (p.Pro359fs)
NM_181486.4(TBX5):c.1084C>T (p.Gln362Ter) rs765204502
NM_181486.4(TBX5):c.119C>A (p.Ser40Ter) rs903933027
NM_181486.4(TBX5):c.1203G>A (p.Trp401Ter) rs377649723
NM_181486.4(TBX5):c.1269C>G (p.Tyr423Ter) rs756049331
NM_181486.4(TBX5):c.1303del (p.Leu435fs)
NM_181486.4(TBX5):c.1346del (p.Gln449fs)
NM_181486.4(TBX5):c.261C>A (p.Tyr87Ter) rs767197919
NM_181486.4(TBX5):c.295A>T (p.Lys99Ter) rs1565941529
NM_181486.4(TBX5):c.336del (p.His112fs)
NM_181486.4(TBX5):c.342C>A (p.Tyr114Ter) rs1565941422
NM_181486.4(TBX5):c.426del (p.Ala143fs)
NM_181486.4(TBX5):c.444G>A (p.Trp148Ter) rs1555226315
NM_181486.4(TBX5):c.457dup (p.Val153fs)
NM_181486.4(TBX5):c.496del (p.Asp166fs)
NM_181486.4(TBX5):c.500del (p.Pro167fs)
NM_181486.4(TBX5):c.537C>A (p.Tyr179Ter) rs1565939337
NM_181486.4(TBX5):c.559_572dup (p.Asn191fs) rs1565939303
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
NM_181486.4(TBX5):c.635_636del (p.Ile212fs)
NM_181486.4(TBX5):c.674T>G (p.Leu225Ter) rs1565935432
NM_181486.4(TBX5):c.680_683del (p.Ile227fs) rs1565935410
NM_181486.4(TBX5):c.703G>T (p.Gly235Ter) rs1565935397
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) rs104894382
NM_181486.4(TBX5):c.713dup (p.Ser239fs)
NM_181486.4(TBX5):c.728_729del (p.Glu243fs)
NM_181486.4(TBX5):c.73_74insT (p.Asp25fs) rs1565943328
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_181486.4(TBX5):c.845C>T (p.Ser282Phe) rs1565927794
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter) rs1565927747
NM_181486.4(TBX5):c.879T>A (p.Cys293Ter) rs1565927740
NM_181486.4(TBX5):c.924del (p.Asn309fs)
NM_181486.4(TBX5):c.933C>G (p.Tyr311Ter) rs1565927664
NM_181486.4(TBX5):c.943C>T (p.Gln315Ter) rs1565927645
NM_181486.4(TBX5):c.978del (p.Glu328fs)
NM_182641.4(BPTF):c.5575_5576del (p.Arg1859fs) rs2147247193
NM_182931.3(KMT2E):c.3241_3257del (p.Asn1081fs) rs2129569915
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_205768.3(ZBTB18):c.1143C>A (p.Cys381Ter) rs1698428230
NM_205768.3(ZBTB18):c.877_881del (p.Asp293fs) rs2148556854

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