ClinVar Miner

List of variants reported as pathogenic by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 331
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HGVS dbSNP gnomAD frequency
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00002
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406 0.00002
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) rs199473534 0.00001
NM_000312.4(PROC):c.479G>C (p.Cys160Ser) rs1450037999 0.00001
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565 0.00001
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000488.4(SERPINC1):c.436A>G (p.Lys146Glu) rs1170430756 0.00001
NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter) rs774711057 0.00001
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter) rs758903488 0.00001
NM_022552.5(DNMT3A):c.1937-2A>G rs770305758 0.00001
GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1
NC_000011.10:g.(2662082_2768843)_(2778038_2847766)del
NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg) rs2139065261
NM_000020.3(ACVRL1):c.68del (p.Pro23fs) rs2139064139
NM_000020.3(ACVRL1):c.868C>T (p.Gln290Ter) rs2139073064
NM_000030.3(AGXT):c.642del (p.Pro215fs) rs2106429906
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
NM_000038.6(APC):c.460dup (p.Glu154fs) rs2149614987
NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp) rs1135401953
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) rs74315111
NM_000088.4(COL1A1):c.3443G>A (p.Gly1148Asp) rs1131692320
NM_000091.5(COL4A3):c.2746+1G>T rs1574786225
NM_000091.5(COL4A3):c.3244A>T (p.Lys1082Ter) rs2106226493
NM_000092.5(COL4A4):c.2860+2T>G rs2150219160
NM_000129.4(F13A1):c.232C>T (p.Arg78Cys)
NM_000132.4(F8):c.639_651dup (p.Phe218fs) rs2124134352
NM_000132.4(F8):c.6821T>C (p.Met2274Thr)
NM_000133.4(F9):c.68T>C (p.Leu23Pro)
NM_000133.4(F9):c.871G>C (p.Glu291Gln)
NM_000168.6(GLI3):c.4430_4439del (p.Ser1477fs) rs1787109472
NM_000169.3(GLA):c.666C>G (p.Tyr222Ter)
NM_000179.3(MSH6):c.3600_3609del (p.Ile1200fs)
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs) rs397508077
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.1325del (p.His442fs) rs1135401944
NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs) rs1846542419
NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs) rs1554920580
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1685+2T>C rs1590081467
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) rs199472814
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.604+2T>C rs1848322089
NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro) rs794728512
NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro) rs199472716
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro) rs1564821090
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del) rs397508126
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala) rs199472754
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000238.4(KCNH2):c.1102del (p.His368fs) rs1584863723
NM_000238.4(KCNH2):c.1139del (p.Leu380fs) rs1563161538
NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter) rs199472892
NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala) rs1584856497
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter) rs1563156868
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu) rs199472974
NM_000238.4(KCNH2):c.1967del (p.Phe656fs) rs1801136696
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.4(KCNH2):c.232_250del (p.Ala78fs) rs1584883087
NM_000238.4(KCNH2):c.2398+2T>A rs1563152963
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.2456del (p.Asn819fs) rs794728446
NM_000238.4(KCNH2):c.2616dup (p.Gly873fs) rs1584847173
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs) rs1385959174
NM_000238.4(KCNH2):c.2705del (p.Pro902fs) rs1563148264
NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs) rs2116933757
NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer)
NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs) rs1131692327
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000238.4(KCNH2):c.3017del (p.Gly1006fs) rs794728504
NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs) rs1584843078
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs) rs1584843033
NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter) rs1554423863
NM_000238.4(KCNH2):c.453del (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.678del (p.Ala228fs) rs794728496
NM_000238.4(KCNH2):c.95C>T (p.Ala32Val) rs1801941580
NM_000249.4(MLH1):c.1695_1698del (p.Ile565fs) rs2125957613
NM_000256.3(MYBPC3):c.1367del (p.Ile456fs) rs1595846398
NM_000297.4(PKD2):c.1320-2del rs1578135823
NM_000297.4(PKD2):c.1792_1794delinsCCAAA (p.Phe598fs)
NM_000297.4(PKD2):c.2844del (p.Ser949fs) rs1721205608
NM_000297.4(PKD2):c.316del (p.Glu106fs)
NM_000307.5(POU3F4):c.249dup (p.Gly84fs) rs1569280138
NM_000312.4(PROC):c.400+2T>C rs2104953327
NM_000312.4(PROC):c.94C>T (p.Arg32Cys)
NM_000313.4(PROS1):c.122G>A (p.Arg41His)
NM_000313.4(PROS1):c.1870+1G>C rs780859898
NM_000313.4(PROS1):c.263G>A (p.Cys88Tyr)
NM_000313.4(PROS1):c.740G>C (p.Cys247Ser) rs2107158284
NM_000313.4(PROS1):c.76+2_76+3del rs2107279030
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter) rs199473579
NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu) rs199473172
NM_000335.5(SCN5A):c.2787+2T>A rs2061653258
NM_000335.5(SCN5A):c.3488dup (p.Glu1164fs) rs794728918
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter) rs199473598
NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter) rs587781159
NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter) rs1559727990
NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter) rs1553605932
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu) rs199473310
NM_000335.5(SCN5A):c.611+1G>A rs794728843
NM_000342.3(SLC4A1):c.(1094_1375)_(2057+11_2058-41)del
NM_000390.4(CHM):c.703-2A>G rs2147667674
NM_000390.4(CHM):c.846dup (p.Asn283Ter) rs2147665855
NM_000435.3(NOTCH3):c.194G>T (p.Cys65Phe) rs1555730176
NM_000458.4(HNF1B):c.280G>T (p.Glu94Ter)
NM_000488.4(SERPINC1):c.1219-2A>G rs2102773374
NM_000488.4(SERPINC1):c.1358T>C (p.Ile453Thr)
NM_000492.3(CFTR):c.(1392+1_1393-1)_(1584+1_1585-1)del
NM_000506.5(F2):c.1088G>A (p.Arg363His)
NM_000530.8(MPZ):c.304del (p.Trp101_Val102insTer)
NM_000535.7(PMS2):c.525del (p.Asn176fs) rs2128815756
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys) rs374292194
NM_000834.5(GRIN2B):c.2434C>T (p.Gln812Ter) rs1555103165
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys) rs1085307547
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala) rs199473382
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys) rs199473389
NM_001009944.3(PKD1):c.10203dup (p.Leu3402fs)
NM_001009944.3(PKD1):c.10321C>T (p.Gln3441Ter)
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs) rs2151710347
NM_001009944.3(PKD1):c.11338_11344dup (p.Asp3782fs) rs1555445999
NM_001009944.3(PKD1):c.12336del (p.Leu4113fs) rs2091440383
NM_001009944.3(PKD1):c.13_16dup (p.Pro6fs)
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.3205_3235del (p.Pro1069fs) rs2092538008
NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs) rs2151799399
NM_001009944.3(PKD1):c.4217_4220dup (p.Phe1408fs) rs754820795
NM_001009944.3(PKD1):c.4279del (p.Arg1427fs)
NM_001009944.3(PKD1):c.5290G>T (p.Glu1764Ter) rs753749502
NM_001009944.3(PKD1):c.5856del (p.Asn1954fs) rs2151791178
NM_001009944.3(PKD1):c.6164dup (p.Glu2056fs) rs2151789587
NM_001009944.3(PKD1):c.6567_6568dup (p.Tyr2190fs) rs1596551138
NM_001009944.3(PKD1):c.6696_6699del (p.Phe2232fs)
NM_001009944.3(PKD1):c.678G>A (p.Glu226=) rs2092673013
NM_001009944.3(PKD1):c.6883dup (p.Ser2295fs) rs2151785622
NM_001009944.3(PKD1):c.707del (p.Gln236fs) rs2092672656
NM_001009944.3(PKD1):c.7252del (p.Asp2418fs)
NM_001009944.3(PKD1):c.7989del (p.Ile2664fs) rs2151766664
NM_001009944.3(PKD1):c.8162-2A>G rs2092209753
NM_001009944.3(PKD1):c.81del (p.Arg28fs)
NM_001009944.3(PKD1):c.8333dup (p.Glu2779fs) rs1567178000
NM_001009944.3(PKD1):c.8754_8758del (p.Gly2919fs) rs1596525695
NM_001009944.3(PKD1):c.8839del (p.His2947fs)
NM_001010892.3(RSPH4A):c.1631G>A (p.Trp544Ter) rs2115362674
NM_001031710.3(KLHL7):c.1197_1200del (p.Phe400fs) rs2128469724
NM_001032221.6(STXBP1):c.325+5G>A
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) rs794728787
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu) rs1291829047
NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu) rs1553343100
NM_001077350.3(NPRL3):c.1230_1231del (p.Cys411fs) rs1898687282
NM_001080512.3(BICC1):c.93del (p.Glu32fs) rs2132481650
NM_001080517.3(SETD5):c.1416dup (p.Val473fs)
NM_001080517.3(SETD5):c.489dup (p.Val164fs) rs2125111250
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001083962.2(TCF4):c.655+1G>T rs587784465
NM_001110792.2(MECP2):c.1168_1169del (p.Ala390fs) rs2065925520
NM_001110792.2(MECP2):c.988dup (p.Glu330fs) rs1603308287
NM_001111125.3(IQSEC2):c.1849del (p.Arg617fs) rs2074373583
NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)
NM_001114753.3(ENG):c.524-1G>A rs2131889572
NM_001126108.2(SLC12A3):c.1338del (p.Thr446_Met447insTer) rs886041108
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs) rs1600272344
NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs) rs2056600391
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del rs1568440440
NM_001170629.2(CHD8):c.3331_3332del (p.Glu1111fs) rs2139470170
NM_001170629.2(CHD8):c.3522C>A (p.Tyr1174Ter) rs1888108124
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) rs1555985820
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs) rs1564634581
NM_001197104.2(KMT2A):c.11071+1G>A rs1555049702
NM_001197104.2(KMT2A):c.11122del (p.Arg3708fs)
NM_001197104.2(KMT2A):c.3794del (p.Lys1265fs)
NM_001197104.2(KMT2A):c.7155del (p.His2385fs) rs2134389341
NM_001197104.2(KMT2A):c.7970_7973dup (p.Arg2659fs)
NM_001204.7(BMPR2):c.1519_1520insAT (p.Ile507fs) rs2106042216
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter) rs2154176072
NM_001271.4(CHD2):c.1387C>T (p.Gln463Ter) rs2141802487
NM_001282225.2(ADA2):c.611G>A (p.Trp204Ter)
NM_001282531.3(ADNP):c.2167del (p.Glu723fs) rs2122746230
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2495_2499del (p.Asn832fs) rs2122742586
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) rs779685748
NM_001292063.2(OTOG):c.1198C>T (p.Gln400Ter) rs2134007236
NM_001330078.2(NRXN1):c.773-1G>T rs1574949440
NM_001330288.2(SMARCC2):c.1094_1097del (p.Lys365fs)
NM_001348323.3(TRIP12):c.1012C>T (p.Gln338Ter)
NM_001348323.3(TRIP12):c.5452_5453delinsAAACAAATTGTAAATTGTACCA (p.Pro1818fs)
NM_001352027.3(PHF21A):c.1724C>A (p.Ser575Ter)
NM_001352027.3(PHF21A):c.619C>T (p.Gln207Ter)
NM_001356.5(DDX3X):c.1171-1G>C rs1602134459
NM_001356.5(DDX3X):c.1354A>T (p.Lys452Ter)
NM_001356.5(DDX3X):c.1463G>C (p.Arg488Pro) rs796052235
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln) rs2145192570
NM_001369268.1(ACAN):c.2002dup (p.Arg668fs)
NM_001370259.2(MEN1):c.1119del (p.Asn374fs)
NM_001372044.2(SHANK3):c.1294C>T (p.Arg432Ter)
NM_001372044.2(SHANK3):c.3189_3202del (p.His1064fs)
NM_001374828.1(ARID1B):c.2762G>T (p.Gly921Val) rs2128633891
NM_001377265.1(MAPT):c.2266C>T (p.Pro756Ser)
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys) rs2124927471
NM_001378615.1(CC2D2A):c.4021_4022del (p.Thr1341fs) rs1577396376
NM_001384474.1(LOXHD1):c.746G>A (p.Trp249Ter) rs1248889536
NM_001387430.1(SH2B1):c.952C>T (p.Arg318Ter) rs2152178267
NM_001845.6(COL4A1):c.2458+1G>C rs1878012979
NM_001904.4(CTNNB1):c.1297A>T (p.Lys433Ter) rs1559474364
NM_001904.4(CTNNB1):c.1588C>T (p.Gln530Ter) rs1559474966
NM_001904.4(CTNNB1):c.306del (p.Thr102_Leu103insTer) rs2078141730
NM_002226.5(JAG2):c.1219_1225del (p.Phe407fs) rs2140979845
NM_002890.2:c.540-406_692+21735del
NM_003042.4(SLC6A1):c.341_344delinsCC (p.Gly114fs)
NM_003611.3(OFD1):c.363del (p.Ser122fs) rs1555901146
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter) rs1556852362
NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs) rs1567309482
NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser) rs1554774575
NM_004463.3(FGD1):c.679del (p.Ser227fs) rs1922859149
NM_004859.4(CLTC):c.1976C>G (p.Ser659Ter)
NM_004859.4(CLTC):c.2438del (p.Pro813fs)
NM_004859.4(CLTC):c.3470T>A (p.Leu1157Ter) rs2143593640
NM_005249.5(FOXG1):c.632T>C (p.Ile211Thr) rs1594383648
NM_005257.6(GATA6):c.1367G>T (p.Arg456Leu)
NM_005611.4(RBL2):c.574C>T (p.Arg192Ter)
NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter)
NM_005862.3(STAG1):c.391C>T (p.Arg131Ter) rs1937166346
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His) rs1555162323
NM_006343.3(MERTK):c.2190-2A>G rs2104423657
NM_006516.4(SLC2A1):c.299dup (p.Asn100fs) rs1557646673
NM_006593.4(TBR1):c.412_413dup (p.Ile139fs)
NM_006618.5(KDM5B):c.453_454del (p.Trp152fs)
NM_006662.3(SRCAP):c.5690_5697del (p.Arg1897fs)
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter) rs1564038539
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006772.3(SYNGAP1):c.359_381del (p.Gly120fs) rs1777174302
NM_006940.6(SOX5):c.959del (p.Pro320fs) rs2079966010
NM_007214.5(SEC63):c.1023C>A (p.Cys341Ter) rs2114446923
NM_012309.5(SHANK2):c.2593C>T (p.Gln865Ter) rs2135739220
NM_013275.6(ANKRD11):c.1558del (p.Ala520fs) rs2151763801
NM_013275.6(ANKRD11):c.1896_1897del (p.His632fs) rs2034516672
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter) rs2151730563
NM_014159.7(SETD2):c.1289_1290del (p.Asp429_Ser430insTer) rs1575817869
NM_014516.4(CNOT3):c.1373dup (p.Ser459fs)
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs) rs1415763185
NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs) rs1553961585
NM_014795.4(ZEB2):c.2303del (p.Asn768fs) rs1703267358
NM_015057.5(MYCBP2):c.2143C>T (p.Arg715Ter)
NM_015272.5(RPGRIP1L):c.2305-1G>A rs863225215
NM_015335.4(MED13L):c.516_517delinsAT (p.His172_Gly173delinsGlnTer) rs1555250044
NM_015335.5(MED13L):c.1496dup (p.Met499fs) rs1879220710
NM_015335.5(MED13L):c.4213G>T (p.Glu1405Ter) rs2137287115
NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs)
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter) rs1057517708
NM_015570.4(AUTS2):c.1913del (p.Pro638fs) rs2129558877
NM_016239.4(MYO15A):c.343del (p.Arg115fs)
NM_016239.4(MYO15A):c.6708C>A (p.Cys2236Ter)
NM_016239.4(MYO15A):c.8730C>A (p.Cys2910Ter) rs776201118
NM_017635.5(KMT5B):c.1183C>T (p.Arg395Ter)
NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter) rs1131692325
NM_017780.4(CHD7):c.8076+1G>C rs1563671108
NM_017799.4(TMEM260):c.1410C>A (p.Tyr470Ter)
NM_017799.4(TMEM260):c.862del (p.Gln288fs)
NM_017934.7(PHIP):c.4513C>T (p.Arg1505Ter)
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs) rs758549961
NM_018249.6(CDK5RAP2):c.4670_4671del (p.Leu1557fs) rs1554730137
NM_020347.4(LZTFL1):c.253C>T (p.Arg85Ter)
NM_020699.4(GATAD2B):c.1426G>T (p.Glu476Ter) rs1553187446
NM_020699.4(GATAD2B):c.185del (p.Glu62fs) rs1570938014
NM_021224.6(ZNF462):c.3937del (p.His1313fs)
NM_022124.6(CDH23):c.2132_2136del (p.Tyr711fs) rs1554856042
NM_022454.4(SOX17):c.314C>A (p.Ser105Ter) rs2129277991
NM_022455.5(NSD1):c.1549C>T (p.Gln517Ter) rs1131692328
NM_022455.5(NSD1):c.2613del (p.Ser871_Leu872insTer) rs1581321541
NM_022552.5(DNMT3A):c.2322+1G>A rs903011938
NM_023110.3(FGFR1):c.1988C>G (p.Pro663Arg)
NM_024120.5(NDUFAF5):c.223-2A>T
NM_024665.7(TBL1XR1):c.419dup (p.Ile141fs) rs2108496178
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs) rs778407127
NM_025114.4(CEP290):c.4159dup (p.Ser1387fs) rs1555208870
NM_030632.3(ASXL3):c.1351C>T (p.Gln451Ter) rs1179499890
NM_030665.4(RAI1):c.4271del (p.Phe1424fs) rs2143002950
NM_033380.3(COL4A5):c.1648dup (p.Ile550fs) rs1603290131
NM_033380.3(COL4A5):c.2245G>A (p.Gly749Ser)
NM_033380.3(COL4A5):c.2892_2899dup (p.Gly967fs) rs2067083148
NM_033380.3(COL4A5):c.311del (p.Pro104fs) rs1603278993
NM_033380.3(COL4A5):c.4316-1G>T rs281874734
NM_033380.3(COL4A5):c.4789del (p.Asp1597fs) rs1569509234
NM_033380.3(COL4A5):c.564_598del (p.Gly189fs)
NM_057175.5(NAA15):c.995T>G (p.Leu332Ter) rs2110935239
NM_078480.3(PUF60):c.1072_1073delinsTTGACCCTGGCCCAGCCCC (p.Leu364fs) rs1554642573
NM_133433.4(NIPBL):c.2780_2784del (p.Lys927fs)
NM_138694.4(PKHD1):c.2950C>T (p.Gln984Ter) rs1581910796
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer) rs1366021609
NM_170606.3(KMT2C):c.14006_14007del (p.Ser4669fs)
NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter) rs58362413
NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs) rs1555850403
NM_172107.4(KCNQ2):c.601C>G (p.Arg201Gly)
NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter) rs1554226673
NM_197968.4(ZMYM2):c.2494-2A>G
NM_205768.3(ZBTB18):c.753_754del (p.Ser252fs) rs1698415634
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter) rs1195403033
NM_206933.4(USH2A):c.4685delinsAT (p.Ser1562fs)
NM_207037.2(TCF12):c.786dup (p.Ser263fs) rs1597483678
Single allele

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