ClinVar Miner

List of variants reported as likely pathogenic for not provided by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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ClinVar version:
Total variants: 346
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_021939.4(FKBP10):c.917+53G>T rs141387386 0.00927
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_001195129.2(PRSS56):c.1400G>T (p.Arg467Leu) rs554826646 0.00130
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) rs200040003 0.00037
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039 0.00025
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_144508.5(KNL1):c.3634G>A (p.Ala1212Thr) rs533933463 0.00014
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786 0.00008
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001252024.2(TRPM1):c.69G>A (p.Met23Ile) rs770561064 0.00007
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) rs373369949 0.00007
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453 0.00006
NM_002335.4(LRP5):c.685C>T (p.Arg229Trp) rs766589610 0.00006
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) rs368098126 0.00006
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys) rs786205473 0.00005
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn) rs751931568 0.00004
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_017570.5(OPLAH):c.2303G>A (p.Arg768His) rs539275646 0.00003
NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu) rs769211787 0.00003
NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr) rs786205519 0.00003
NM_001004334.4(GPR179):c.349G>A (p.Asp117Asn) rs776996552 0.00002
NM_001126121.2(SLC25A19):c.505G>A (p.Glu169Lys) rs759157320 0.00002
NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys) rs542184779 0.00002
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623 0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_014846.4(WASHC5):c.1669G>A (p.Ala557Thr) rs749056160 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) rs773734224 0.00002
NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys) rs752274637 0.00002
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461 0.00002
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter) rs377074720 0.00002
NM_000215.4(JAK3):c.308G>A (p.Arg103His) rs774202259 0.00001
NM_000382.3(ALDH3A2):c.623T>C (p.Leu208Pro) rs786205501 0.00001
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter) rs786205604 0.00001
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) rs775766910 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000489.6(ATRX):c.2102G>A (p.Arg701His) rs797044563 0.00001
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_001267550.2(TTN):c.22682A>G (p.Tyr7561Cys) rs786205544 0.00001
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107 0.00001
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585 0.00001
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539 0.00001
NM_001267550.2(TTN):c.74840G>A (p.Arg24947His) rs765512476 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) rs753625117 0.00001
NM_001353214.3(DYM):c.1282C>T (p.Arg428Ter) rs771414481 0.00001
NM_001353214.3(DYM):c.422G>A (p.Ser141Asn) rs148059981 0.00001
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=) rs757139660 0.00001
NM_001379500.1(COL18A1):c.2338C>T (p.Gln780Ter) rs786205554 0.00001
NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter) rs753824908 0.00001
NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) rs786205550 0.00001
NM_003835.4(RGS9):c.704C>T (p.Ala235Val) rs786205509 0.00001
NM_004530.6(MMP2):c.538G>A (p.Asp180Asn) rs786205497 0.00001
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189 0.00001
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter) rs762426409 0.00001
NM_006204.4(PDE6C):c.939+5G>A rs374805348 0.00001
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205 0.00001
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) rs786205493 0.00001
NM_014391.3(ANKRD1):c.790C>T (p.Arg264Cys) rs786205461 0.00001
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314 0.00001
NM_018451.5(CENPJ):c.133C>T (p.Arg45Ter) rs786205481 0.00001
NM_020297.4(ABCC9):c.2815C>T (p.Arg939Trp) rs373890183 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022134.3(GAL3ST2):c.197C>T (p.Thr66Met) rs372108744 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_024101.7(MLPH):c.104G>A (p.Arg35Gln) rs786205551 0.00001
NM_024757.5(EHMT1):c.611G>A (p.Arg204His) rs786205601 0.00001
NM_031885.5(BBS2):c.508G>A (p.Asp170Asn) rs786205498 0.00001
NM_138694.4(PKHD1):c.2978A>G (p.His993Arg) rs786205582 0.00001
NM_145649.5(GCNT2):c.1025A>G (p.Tyr342Cys) rs786205577 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs) rs796065318
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000070.3(CAPN3):c.2381-1G>A rs786205491
NM_000070.3(CAPN3):c.310G>T (p.Glu104Ter) rs786205490
NM_000074.3(CD40LG):c.506A>G (p.Tyr169Cys) rs786205606
NM_000074.3(CD40LG):c.719_720del (p.Asn240fs) rs786205607
NM_000081.4(LYST):c.6694G>T (p.Gly2232Ter) rs748659198
NM_000082.4(ERCC8):c.1016G>A (p.Cys339Tyr) rs786205573
NM_000088.4(COL1A1):c.1002+2T>A rs786205507
NM_000088.4(COL1A1):c.2354G>A (p.Gly785Asp) rs786205506
NM_000088.4(COL1A1):c.2668-11T>G rs786205505
NM_000088.4(COL1A1):c.3622A>T (p.Lys1208Ter) rs786205504
NM_000089.4(COL1A2):c.1135G>A (p.Gly379Arg) rs786205587
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser) rs759739044
NM_000092.5(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.5(COL4A4):c.3577+3A>T rs786205548
NM_000094.4(COL7A1):c.4864G>C (p.Gly1622Arg) rs786205561
NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter) rs786205593
NM_000180.4(GUCY2D):c.416T>C (p.Leu139Pro) rs786205499
NM_000180.4(GUCY2D):c.527T>C (p.Leu176Pro) rs786205500
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) rs786205464
NM_000215.4(JAK3):c.913C>T (p.Gln305Ter) rs786205517
NM_000228.3(LAMB3):c.1977-1G>A rs786205451
NM_000238.4(KCNH2):c.1738G>C (p.Asp580His) rs786205588
NM_000256.3(MYBPC3):c.270C>G (p.Phe90Leu) rs367990952
NM_000256.3(MYBPC3):c.3611T>C (p.Val1204Ala) rs786205470
NM_000258.3(MYL3):c.482-10C>T rs567723663
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.616C>T (p.Gln206Ter) rs786205502
NM_000287.4(PEX6):c.661G>T (p.Glu221Ter) rs786205580
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000326.5(RLBP1):c.773T>G (p.Leu258Trp) rs786205494
NM_000329.3(RPE65):c.1366del (p.Glu456fs) rs786205444
NM_000335.5(SCN5A):c.3184dup (p.Asp1062fs) rs1553699607
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs) rs793888523
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter) rs786205447
NM_000350.3(ABCA4):c.4852T>A (p.Trp1618Arg) rs786205446
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer) rs786205445
NM_000359.3(TGM1):c.977_978del (p.Ser326fs) rs786205485
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp) rs786205574
NM_000426.4(LAMA2):c.1762del (p.Ala588fs) rs786205654
NM_000428.3(LTBP2):c.2428+5G>C rs786205624
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) rs772340017
NM_000448.3(RAG1):c.555del (p.Lys186fs) rs786205615
NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter) rs786205655
NM_000466.3(PEX1):c.2894T>C (p.Leu965Pro) rs786205586
NM_000466.3(PEX1):c.657_660del (p.Ser220fs) rs786205656
NM_000492.4(CFTR):c.1375_1383del (p.Ser459_Gly461del) rs786205658
NM_000533.5(PLP1):c.650G>A (p.Gly217Asp) rs786205605
NM_000536.4(RAG2):c.1403_1406del (p.His468fs) rs786205616
NM_000536.4(RAG2):c.374_375del (p.Thr125fs) rs786205469
NM_000536.4(RAG2):c.547T>C (p.Phe183Leu) rs786205468
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) rs786205521
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter) rs786205528
NM_000823.4(GHRHR):c.458C>A (p.Ala153Asp) rs779187338
NM_001005242.3(PKP2):c.1719G>C (p.Gln573His) rs786205476
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) rs786205611
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg) rs786205456
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.659G>A (p.Gly220Glu) rs786205454
NM_001040142.2(SCN2A):c.1676_1679del (p.Ser558_Leu559insTer) rs786205635
NM_001079802.2(FKTN):c.314G>T (p.Cys105Phe) rs786205597
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001080414.4(CCDC88C):c.4167G>C (p.Met1389Ile) rs786205489
NM_001098484.3(SLC4A4):c.842A>T (p.Asp281Val) rs786205569
NM_001101.5(ACTB):c.217C>G (p.His73Asp) rs786205585
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001122769.3(LCA5):c.1020del (p.Lys340fs) rs786205653
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001127671.2(LIFR):c.1121+1G>A rs786205647
NM_001130987.2(DYSF):c.1530del (p.Tyr511fs) rs786205632
NM_001130987.2(DYSF):c.727A>G (p.Lys243Glu) rs786205525
NM_001130987.2(DYSF):c.92-1G>A rs786205524
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_001148.6(ANK2):c.7844C>A (p.Pro2615His) rs786205571
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter) rs786205595
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter) rs770279237
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu) rs730882206
NM_001174150.2(ARL13B):c.765T>A (p.Asn255Lys) rs786205563
NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs) rs797044565
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs) rs786205645
NM_001267550.2(TTN):c.32470+3A>G rs786205543
NM_001267550.2(TTN):c.44269C>G (p.Leu14757Val) rs786205542
NM_001267550.2(TTN):c.62330G>A (p.Gly20777Glu) rs786205541
NM_001267550.2(TTN):c.6292C>G (p.Arg2098Gly) rs763722868
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.88613del (p.Gly29538fs) rs786205639
NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter) rs786205538
NM_001267550.2(TTN):c.90890T>A (p.Phe30297Tyr) rs786205537
NM_001267550.2(TTN):c.92813G>C (p.Arg30938Thr) rs786205536
NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter) rs767837705
NM_001298.3(CNGA3):c.1457G>A (p.Cys486Tyr) rs786205531
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser) rs786205532
NM_001353214.3(DYM):c.2025+1G>A rs786205511
NM_001353214.3(DYM):c.272C>G (p.Ser91Ter) rs786205513
NM_001353214.3(DYM):c.946+1G>A rs786205512
NM_001365902.3(NFIX):c.520G>T (p.Glu174Ter) rs786205515
NM_001368894.2(PAX6):c.1020C>G (p.Tyr340Ter) rs786205467
NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter) rs786205575
NM_001374828.1(ARID1B):c.6319G>T (p.Glu2107Ter) rs786205584
NM_001378454.1(ALMS1):c.11873-2A>T rs786205527
NM_001378454.1(ALMS1):c.1671del (p.Pro558fs) rs786205633
NM_001378454.1(ALMS1):c.2726C>G (p.Ser909Ter) rs746640196
NM_001378454.1(ALMS1):c.764G>A (p.Arg255Lys) rs786205526
NM_001378615.1(CC2D2A):c.4437+1G>A rs786205568
NM_001429.4(EP300):c.1092C>A (p.Cys364Ter) rs786205557
NM_001625.4(AK2):c.545C>A (p.Ala182Asp) rs559947967
NM_001844.5(COL2A1):c.3230G>T (p.Gly1077Val) rs786205477
NM_001848.3(COL6A1):c.128A>C (p.Asp43Ala) rs786205555
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_001953.5(TYMP):c.355G>A (p.Gly119Arg) rs786205559
NM_002076.4(GNS):c.83del (p.Leu28fs) rs786205619
NM_002185.5(IL7R):c.636T>G (p.Tyr212Ter) rs786205572
NM_002185.5(IL7R):c.885del (p.Asn295fs) rs786205646
NM_002282.3(KRT83):c.1244T>G (p.Leu415Arg) rs786205480
NM_002292.4(LAMB2):c.374A>C (p.Gln125Pro) rs786205643
NM_002292.4(LAMB2):c.5056G>T (p.Glu1686Ter) rs786205562
NM_002471.4(MYH6):c.1203C>A (p.Cys401Ter) rs786205484
NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln) rs786205449
NM_002546.4(TNFRSF11B):c.194G>T (p.Cys65Phe) rs786205594
NM_002700.3(POU4F3):c.848C>T (p.Ala283Val) rs759091617
NM_002860.4(ALDH18A1):c.332A>G (p.Glu111Gly) rs786205614
NM_003322.6(TULP1):c.180del (p.Lys61fs) rs786205650
NM_003482.4(KMT2D):c.11395C>T (p.Gln3799Ter) rs786205478
NM_003680.4(YARS1):c.789C>A (p.Phe263Leu) rs786205442
NM_004006.3(DMD):c.3922-3C>T rs786205603
NM_004281.4(BAG3):c.1630G>C (p.Asp544His) rs786205466
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly) rs200722892
NM_004380.3(CREBBP):c.4890+2T>C rs786205495
NM_004431.5(EPHA2):c.2007G>T (p.Gln669His) rs786205441
NM_004646.4(NPHS1):c.3385A>C (p.Thr1129Pro) rs786205518
NM_004744.5(LRAT):c.233_242del (p.Leu78fs) rs786205644
NM_004817.4(TJP2):c.1001del (p.Arg334fs) rs786205659
NM_004830.4(MED23):c.479T>C (p.Leu160Pro) rs786205583
NM_005045.4(RELN):c.7030_7031del (p.Met2344fs) rs786205657
NM_005199.5(CHRNG):c.55+1G>A rs786205549
NM_005208.5(CRYBA1):c.588_591del (p.Arg196fs) rs786205628
NM_005249.5(FOXG1):c.694A>T (p.Asn232Tyr) rs786205486
NM_005359.6(SMAD4):c.1358C>T (p.Thr453Ile) rs786205514
NM_005633.4(SOS1):c.224A>T (p.Gln75Leu) rs786205522
NM_005804.4(DDX39A):c.677T>A (p.Phe226Tyr) rs786205516
NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly) rs786205479
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) rs587779355
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) rs151020551
NM_006204.4(PDE6C):c.1613T>C (p.Phe538Ser) rs786205462
NM_006204.4(PDE6C):c.1946T>C (p.Ile649Thr) rs786205463
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006269.2(RP1):c.607G>A (p.Gly203Arg) rs786205589
NM_006343.3(MERTK):c.1604+2T>G rs786205534
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) rs786205535
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) rs786205533
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006721.4(ADK):c.741T>A (p.Phe247Leu) rs786205458
NM_006772.3(SYNGAP1):c.535del (p.Glu179fs) rs786205649
NM_006891.4(CRYGD):c.134T>C (p.Leu45Pro) rs786205546
NM_006915.3(RP2):c.2T>C (p.Met1Thr) rs797044561
NM_006946.4(SPTBN2):c.3791_3792del (p.Gln1264fs) rs786205617
NM_006953.4(UPK3A):c.53-1G>A rs786205558
NM_007078.3(LDB3):c.1799G>C (p.Arg600Pro) rs747523570
NM_013382.7(POMT2):c.1603del (p.Gln535fs) rs786205625
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) rs786205529
NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu) rs761628767
NM_014679.5(CEP57):c.89G>C (p.Arg30Pro) rs577173144
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter) rs201406974
NM_014780.5(CUL7):c.263del (p.Val88fs) rs786205651
NM_014780.5(CUL7):c.4529G>T (p.Gly1510Val) rs786205581
NM_014967.5(FAN1):c.93T>G (p.Ile31Met) rs781134478
NM_015311.3(OBSL1):c.951C>A (p.Tyr317Ter) rs780389591
NM_015338.6(ASXL1):c.2989G>C (p.Glu997Gln) rs786205552
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_015915.5(ATL1):c.988A>T (p.Lys330Ter) rs786205487
NM_016247.4(IMPG2):c.101C>G (p.Ser34Cys) rs786205565
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016247.4(IMPG2):c.380G>C (p.Arg127Pro) rs766305807
NM_017617.5(NOTCH1):c.6200T>C (p.Leu2067Pro) rs786205600
NM_017617.5(NOTCH1):c.6253G>C (p.Ala2085Pro) rs786205599
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) rs786205508
NM_017777.4(MKS1):c.417+1G>A rs756368560
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) rs757778790
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.5064del (p.Val1689fs) rs786205609
NM_018249.6(CDK5RAP2):c.140del (p.Val47fs) rs786205660
NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del) rs730882202
NM_018972.4(GDAP1):c.372C>G (p.Tyr124Ter) rs786205590
NM_018972.4(GDAP1):c.431C>T (p.Pro144Leu) rs786205591
NM_019613.4(WDR45B):c.673C>T (p.Arg225Ter) rs786205510
NM_020184.4(CNNM4):c.734C>T (p.Ser245Leu) rs786205530
NM_020297.4(ABCC9):c.3520C>T (p.His1174Tyr) rs786205475
NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs) rs786205623
NM_020634.3(GDF3):c.232G>C (p.Val78Leu) rs780787386
NM_020661.4(AICDA):c.169G>A (p.Val57Met) rs786205474
NM_020686.6(ABAT):c.709G>A (p.Asp237Asn) rs786205496
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) rs587777132
NM_020989.4(CRYGC):c.403G>T (p.Glu135Ter) rs750872744
NM_021939.4(FKBP10):c.354del (p.Ile118fs) rs797044559
NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del) rs786205612
NM_022356.4(P3H1):c.1170+9G>A rs786205443
NM_022455.5(NSD1):c.1824del (p.Lys608fs) rs786205648
NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter) rs786205576
NM_024101.7(MLPH):c.987del (p.Lys330fs) rs786205641
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024757.5(EHMT1):c.2382+1697T>G rs786205602
NM_024782.3(NHEJ1):c.390+1G>C rs786205547
NM_024809.5(TCTN2):c.254_255del (p.Val85fs) rs786205622
NM_025000.4(DCAF17):c.322-14del rs201494527
NM_025000.4(DCAF17):c.459-7_499del rs786205638
NM_025074.7(FRAS1):c.8098+2T>A rs786205570
NM_025074.7(FRAS1):c.8403_8404del (p.Ser2802fs) rs876661304
NM_025114.4(CEP290):c.3190del (p.Glu1063_Met1064insTer) rs786205620
NM_025114.4(CEP290):c.3777_3778del (p.Arg1259fs) rs765483163
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter) rs786204176
NM_025193.4(HSD3B7):c.694+2del rs786205627
NM_031433.4(MFRP):c.574G>C (p.Glu192Gln) rs786205472
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471
NM_032193.4(RNASEH2C):c.478C>T (p.Gln160Ter) rs771013055
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_033100.4(CDHR1):c.1536T>A (p.Tyr512Ter) rs786205459
NM_033100.4(CDHR1):c.476C>A (p.Ala159Glu) rs763399323
NM_033100.4(CDHR1):c.709del (p.Glu237fs) rs786205613
NM_052989.3(IFT122):c.1715G>T (p.Gly572Val) rs786205566
NM_052989.3(IFT122):c.2375+2T>C rs786205567
NM_080680.3(COL11A2):c.654T>A (p.Tyr218Ter) rs786205578
NM_130466.4(UBE3B):c.1689CTC[1] (p.Ser565del) rs786205621
NM_133259.4(LRPPRC):c.1792C>T (p.Gln598Ter) rs786205523
NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr) rs730882205
NM_139276.3(STAT3):c.1868G>T (p.Trp623Leu) rs786205503
NM_152316.3(ARL14EP):c.653G>A (p.Gly218Glu) rs730882201
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) rs786205636
NM_152384.3(BBS5):c.952GAA[1] (p.Glu319del) rs786205637
NM_152722.5(HEPACAM):c.757_759del (p.Leu253del) rs786205618
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg) rs730880295
NM_153704.6(TMEM67):c.1413-2A>G rs786205608
NM_153704.6(TMEM67):c.739C>G (p.Gln247Glu) rs786205592
NM_153717.3(EVC):c.770T>A (p.Leu257Gln) rs750565190
NM_174916.3(UBR1):c.1258C>A (p.Gln420Lys) rs786205492
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) rs756455049
NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter) rs762826555
NM_182914.3(SYNE2):c.4462C>T (p.Gln1488Ter) rs786205488
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) rs786205450
NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr) rs752212470
NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs) rs786205610
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) rs786205545
NM_203447.4(DOCK8):c.1797+61A>C rs786205596
NM_206933.4(USH2A):c.4429G>T (p.Gly1477Ter) rs786205452
NM_213606.4(SLC16A12):c.404C>T (p.Ala135Val) rs786205460
Single allele rs1555502637

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