ClinVar Miner

List of variants reported as likely pathogenic by Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 525
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HGVS dbSNP
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.2329A>G (p.Ile777Val) rs149969786
NM_000070.3(CAPN3):c.2381-1G>A rs786205491
NM_000070.3(CAPN3):c.310G>T (p.Glu104Ter) rs786205490
NM_000074.2(CD40LG):c.506A>G (p.Tyr169Cys) rs786205606
NM_000074.2(CD40LG):c.719_720del (p.Asn240fs) rs786205607
NM_000082.3(ERCC8):c.1016G>A (p.Cys339Tyr) rs786205573
NM_000088.3(COL1A1):c.1002+2T>A rs786205507
NM_000088.3(COL1A1):c.2354G>A (p.Gly785Asp) rs786205506
NM_000088.3(COL1A1):c.2668-11T>G rs786205505
NM_000088.3(COL1A1):c.3622A>T (p.Lys1208Ter) rs786205504
NM_000089.3(COL1A2):c.1135G>A (p.Gly379Arg) rs786205587
NM_000091.4(COL4A3):c.3964G>A (p.Gly1322Ser) rs759739044
NM_000092.4(COL4A4):c.2420del (p.Gly807fs) rs786205640
NM_000092.4(COL4A4):c.3577+3A>T rs786205548
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000094.3(COL7A1):c.4864G>C (p.Gly1622Arg) rs786205561
NM_000098.3(CPT2):c.241_242del (p.Glu81fs)
NM_000126.4(ETFA):c.884_886del (p.Thr295del)
NM_000127.2(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_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
NM_000181.4(GUSB):c.1586A>G (p.Tyr529Cys) rs786205674
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673
NM_000181.4(GUSB):c.398G>C (p.Trp133Ser) rs786205671
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) rs786205464
NM_000215.3(JAK3):c.308G>A (p.Arg103His) rs774202259
NM_000215.3(JAK3):c.913C>T (p.Gln305Ter) rs786205517
NM_000228.3(LAMB3):c.1977-1G>A rs786205451
NM_000254.3(MTR):c.3518C>T rs121913578
NM_000256.3(MYBPC3):c.270C>G (p.Phe90Leu) rs367990952
NM_000256.3(MYBPC3):c.3611T>C (p.Val1204Ala) rs786205470
NM_000258.2(MYL3):c.482-10C>T rs567723663
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000280.4(PAX6):c.978C>G (p.Tyr326Ter) rs786205467
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_000308.3(CTSA):c.649del (p.Leu217fs) rs786205670
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_000356.4(TCOF1):c.2425C>T (p.Gln809Ter) rs786205575
NM_000359.3(TGM1):c.977_978del (p.Ser326fs) rs786205485
NM_000382.3(ALDH3A2):c.623T>C (p.Leu208Pro) rs786205501
NM_000390.4(CHM):c.1144G>T (p.Glu382Ter) rs786205604
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp) rs786205574
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) rs775766910
NM_000426.3(LAMA2):c.1762del (p.Ala588fs) rs786205654
NM_000426.3(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373
NM_000428.3(LTBP2):c.2428+5G>C rs786205624
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000448.2(RAG1):c.1438A>G (p.Ser480Gly) rs772340017
NM_000448.2(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_000489.5(ATRX):c.2102G>A (p.Arg701His) rs797044563
NM_000492.3(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_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
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_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199
NM_000789.4(ACE):c.3296G>A (p.Gly1099Asp)
NM_000823.4(GHRHR):c.458C>A (p.Ala153Asp) rs779187338
NM_001004334.4(GPR179):c.349G>A (p.Asp117Asn) rs776996552
NM_001007792.1(NTRK1):c.1838G>A (p.Arg613Gln) rs786205449
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) rs786205611
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)
NM_001031726.3(C19orf12):c.157G>A (p.Gly53Arg) rs200133991
NM_001031727.4(MRI1):c.629G>A (p.Arg210Gln) rs141094096
NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg) rs786205456
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.659G>A (p.Gly220Glu) rs786205454
NM_001039523.3(CHRNA1):c.762C>T (p.Arg254=) rs545520806
NM_001040142.2(SCN2A):c.1676_1679del (p.Ser558_Leu559insTer) rs786205635
NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter) rs745990956
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753
NM_001079514.3(UBN1):c.2356T>A (p.Leu786Met) rs765004815
NM_001079519.1(FAM177A1):c.297dup (p.Trp100fs) rs730882244
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_001080449.3(DNA2):c.3114+6del rs587777614
NM_001080522.2(CC2D2A):c.4437+1G>A rs786205568
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001098484.3(SLC4A4):c.842A>T (p.Asp281Val) rs786205569
NM_001101.5(ACTB):c.217C>G (p.His73Asp) rs786205585
NM_001103.3(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001122769.3(LCA5):c.1020del (p.Lys340fs) rs786205653
NM_001126121.2(SLC25A19):c.505G>A (p.Glu169Lys) rs759157320
NM_001127671.2(LIFR):c.1121+1G>A rs786205647
NM_001127713.1(ATL1):c.988A>T (p.Lys330Ter) rs786205487
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_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.2037-1G>C
NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_001142301.1(TMEM67):c.1170-2A>G rs786205608
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_001143986.2(TLE6):c.805_806del (p.Lys269fs)
NM_001146312.2(MYOCD):c.1252A>G (p.Ile418Val) rs137939966
NM_001148.6(ANK2):c.7255G>A (p.Glu2419Lys) rs752704424
NM_001148.6(ANK2):c.7844C>A (p.Pro2615His) rs786205571
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg) rs534934297
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter) rs786205595
NM_001163435.3(TBCK):c.1897+1G>A rs374319146
NM_001163673.1(WDR81):c.59-2135C>T rs770279237
NM_001163809.1(WDR81):c.845G>A (p.Gly282Glu) rs730882206
NM_001165927.1(MKS1):c.1036C>T (p.Gln346Ter) rs786205508
NM_001165927.1(MKS1):c.387+1G>A rs756368560
NM_001168370.1(CUL7):c.2844T>G (p.Tyr948Ter) rs201406974
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His) rs764109067
NM_001174150.2(ARL13B):c.765T>A (p.Asn255Lys) rs786205563
NM_001195129.2(PRSS56):c.1400G>T (p.Arg467Leu) rs554826646
NM_001197104.1(KMT2A):c.7567_7570del (p.Val2523fs) rs797044565
NM_001199398.2(NEK1):c.1558_1559del (p.Met520fs) rs786205645
NM_001205254.2(OCLN):c.514dup (p.Tyr172fs) rs730882227
NM_001252024.2(TRPM1):c.69G>A (p.Met23Ile) rs770561064
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623
NM_001267550.2(TTN):c.22682A>G (p.Tyr7561Cys) rs786205544
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107
NM_001267550.2(TTN):c.32470+3A>G rs786205543
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893
NM_001267550.2(TTN):c.44269C>G (p.Leu14757Val) rs786205542
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585
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.6959G>A (p.Arg2320His) rs374615369
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539
NM_001267550.2(TTN):c.74840G>A (p.Arg24947His) rs765512476
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_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198
NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_001277062.2(MFF):c.112C>T (p.Gln38Ter) rs397514615
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798
NM_001278689.2(EOGT):c.1074del (p.Gly359fs) rs587776994
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
NM_001291339.1(CSPP1):c.1209_1212del (p.Glu405fs) rs587777145
NM_001298.3(CNGA3):c.1457G>A (p.Cys486Tyr) rs786205531
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser) rs786205532
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) rs753625117
NM_001301365.1(LYST):c.6694G>T (p.Gly2232Ter) rs748659198
NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala) rs886039806
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln) rs192669225
NM_001369598.1(ST7):c.489T>G (p.Tyr163Ter) rs550492993
NM_001372179.1(PABPC1L):c.77T>A (p.Met26Lys)
NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg) rs886039812
NM_001378615.1(CC2D2A):c.2339-2A>C
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)
NM_001382817.1(AGT):c.104G>A (p.Arg35Gln)
NM_001383.4(DPH1):c.701T>C (p.Leu234Pro) rs730882250
NM_001408.3(CELSR2):c.8235_8246dup (p.Glu2749_Glu2752dup) rs773722162
NM_001429.4(EP300):c.1092C>A (p.Cys364Ter) rs786205557
NM_001491.2(GCNT2):c.1019A>G (p.Tyr340Cys) rs786205577
NM_001625.4(AK2):c.545C>A (p.Ala182Asp) rs559947967
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453
NM_001844.5(COL2A1):c.3230G>T (p.Gly1077Val) rs786205477
NM_001848.2(COL6A1):c.128A>C (p.Asp43Ala) rs786205555
NM_001849.3(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001909.5(CTSD):c.1155_1169dup (p.Ile390_Gly391insMetGlyAspValPhe) rs730882208
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr) rs797044566
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201
NM_001953.5(TYMP):c.355G>A (p.Gly119Arg) rs786205559
NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp) rs730882230
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_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) rs786205550
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_002335.4(LRP5):c.685C>T (p.Arg229Trp) rs766589610
NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn) rs730882218
NM_002471.3(MYH6):c.1203C>A (p.Cys401Ter) rs786205484
NM_002501.4(NFIX):c.520G>T (p.Glu174Ter) rs786205515
NM_002508.3(NID1):c.3385+1G>A rs730882225
NM_002546.4(TNFRSF11B):c.194G>T (p.Cys65Phe) rs786205594
NM_002601.4(PDE6D):c.257del (p.Cys86fs)
NM_002700.3(POU4F3):c.848C>T (p.Ala283Val) rs759091617
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039
NM_002860.4(ALDH18A1):c.332A>G (p.Glu111Gly) rs786205614
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_003150.4(STAT3):c.1868G>T (p.Trp623Leu) rs786205503
NM_003157.6(NEK4):c.2017dup (p.Ile673fs) rs770418305
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008
NM_003322.6(TULP1):c.180del (p.Lys61fs) rs786205650
NM_003482.3(KMT2D):c.11395C>T (p.Gln3799Ter) rs786205478
NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) rs786205672
NM_003560.4(PLA2G6):c.1911del (p.Ser637fs) rs730882214
NM_003680.3(YARS1):c.789C>A (p.Phe263Leu) rs786205442
NM_003803.3(MYOM1):c.4987G>A (p.Val1663Met) rs751200138
NM_003835.4(RGS9):c.704C>T (p.Ala235Val) rs786205509
NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) rs781015830
NM_004006.2(DMD):c.3922-3C>T rs786205603
NM_004204.4(PIGQ):c.619C>T (p.Arg207Ter) rs730882240
NM_004281.3(BAG3):c.1630G>C (p.Asp544His) rs786205466
NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp) rs778224699
NM_004380.3(CREBBP):c.4890+2T>C rs786205495
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004426.3(PHC1):c.2974C>T (p.Leu992Phe) rs587777036
NM_004431.5(EPHA2):c.2007G>T (p.Gln669His) rs786205441
NM_004530.6(MMP2):c.538G>A (p.Asp180Asn) rs786205497
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552
NM_004572.3(PKP2):c.1851G>C (p.Gln617His) rs786205476
NM_004646.3(NPHS1):c.3385A>C (p.Thr1129Pro) rs786205518
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_004737.6(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461
NM_004744.5(LRAT):c.233_242del (p.Leu78fs) rs786205644
NM_004817.4(TJP2):c.1001del (p.Arg334fs) rs786205659
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890
NM_004830.4(MED23):c.479T>C (p.Leu160Pro) rs786205583
NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly) rs786205666
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_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter) rs730882242
NM_005249.5(FOXG1):c.694A>T (p.Asn232Tyr) rs786205486
NM_005359.6(SMAD4):c.1358C>T (p.Thr453Ile) rs786205514
NM_005441.3(CHAF1B):c.496A>G (p.Ile166Val) rs140630794
NM_005633.3(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189
NM_005633.3(SOS1):c.224A>T (p.Gln75Leu) rs786205522
NM_005691.3(ABCC9):c.1978C>T (p.Arg660Trp) rs760889253
NM_005691.3(ABCC9):c.2815C>T (p.Arg939Trp) rs373890183
NM_005691.3(ABCC9):c.3520C>T (p.His1174Tyr) rs786205475
NM_005804.4(DDX39A):c.677T>A (p.Phe226Tyr) rs786205516
NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly) rs786205479
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) rs587779355
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) rs151020551
NM_006063.3(KLHL41):c.641del (p.Asn214fs) rs730882235
NM_006204.4(PDE6C):c.1613T>C (p.Phe538Ser) rs786205462
NM_006204.4(PDE6C):c.1946T>C (p.Ile649Thr) rs786205463
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter) rs762426409
NM_006204.4(PDE6C):c.939+5G>A rs374805348
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_006420.3(ARFGEF2):c.656dup (p.Val220fs) rs730882200
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556
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_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_006891.4(CRYGD):c.134T>C (p.Leu45Pro) rs786205546
NM_006915.3(RP2):c.2T>C (p.Met1Thr) rs797044561
NM_006946.3(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_007254.4(PNKP):c.1251_1252insACGGGTCGCCATCGACA (p.Arg418fs) rs730882224
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916
NM_013382.5(POMT2):c.1603del (p.Gln535fs) rs786205625
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) rs786205529
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) rs786205493
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) rs368098126
NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu) rs761628767
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_014391.2(ANKRD1):c.790C>T (p.Arg264Cys) rs786205461
NM_014408.5(TRAPPC3):c.184C>T (p.Arg62Trp) rs751375244
NM_014425.5(INVS):c.875C>T (p.Pro292Leu)
NM_014679.5(CEP57):c.89G>C (p.Arg30Pro) rs577173144
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014780.4(CUL7):c.2416G>A (p.Glu806Lys) rs200040003
NM_014780.4(CUL7):c.263del (p.Val88fs) rs786205651
NM_014780.4(CUL7):c.4529G>T (p.Gly1510Val) rs786205581
NM_014822.4(SEC24D):c.697G>C (p.Gly233Arg) rs730882211
NM_014846.4(WASHC5):c.1669G>A (p.Ala557Thr) rs749056160
NM_014967.5(FAN1):c.93T>G (p.Ile31Met) rs781134478
NM_014994.3(MAPKBP1):c.3304C>T (p.Arg1102Cys)
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) rs730882209
NM_015087.5(SPART):c.1450dup (p.Thr484fs) rs730882198
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter) rs137852920
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) rs373369949
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678
NM_015120.4(ALMS1):c.11873-2A>T rs786205527
NM_015120.4(ALMS1):c.1674del (p.Pro559fs) rs786205633
NM_015120.4(ALMS1):c.2729C>G (p.Ser910Ter) rs746640196
NM_015120.4(ALMS1):c.767G>A (p.Arg256Lys) rs786205526
NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) rs757139660
NM_015202.4(KATNIP):c.2674C>T (p.Gln892Ter) rs864309712
NM_015202.5(KATNIP):c.1672C>T (p.Arg558Ter)
NM_015214.2(DDHD2):c.1249_1891del
NM_015311.3(OBSL1):c.951C>A (p.Tyr317Ter) rs780389591
NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter) rs730882245
NM_015338.5(ASXL1):c.2989G>C (p.Glu997Gln) rs786205552
NM_015338.5(ASXL1):c.3635C>T (p.Ser1212Phe) rs542568224
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter) rs397514487
NM_015466.4(PTPN23):c.3995G>T (p.Arg1332Leu) rs730882229
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) rs587777420
NM_015681.5(B9D1):c.209T>C (p.Ile70Thr) rs886039811
NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg) rs730882219
NM_016077.4(PTRH2):c.254A>C (p.Gln85Pro) rs730882234
NM_016121.5(KCTD3):c.1036_1073del (p.Pro346fs) rs730882243
NM_016169.4(SUFU):c.1296+1635C>A
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728
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_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314
NM_016356.5(DCDC2):c.223_293del (p.Arg75fs)
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg) rs886039804
NM_016955.4(SEPSECS):c.1028_1120+1del rs1553878395
NM_017519.2(ARID1B):c.5911G>T (p.Glu1971Ter) rs786205584
NM_017553.3(INO80):c.1501T>C (p.Ser501Pro) rs730882226
NM_017553.3(INO80):c.3737G>A (p.Arg1246Gln) rs199722402
NM_017570.5(OPLAH):c.2303G>A (p.Arg768His) rs539275646
NM_017617.5(NOTCH1):c.6200T>C (p.Leu2067Pro) rs786205600
NM_017617.5(NOTCH1):c.6253G>C (p.Ala2085Pro) rs786205599
NM_017653.5(DYM):c.1282C>T (p.Arg428Ter) rs771414481
NM_017653.5(DYM):c.1860+1G>A rs786205511
NM_017653.5(DYM):c.272C>G (p.Ser91Ter) rs786205513
NM_017653.5(DYM):c.422G>A (p.Ser141Asn) rs148059981
NM_017653.5(DYM):c.946+1G>A rs786205512
NM_017722.4(TRMT1):c.967C>T (p.Arg323Cys) rs542184779
NM_017785.5(SPDL1):c.1724_1747del (p.Ser575_Thr582del) rs730882228
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) rs757778790
NM_017929.6(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_018051.5(DYNC2I1):c.772_775del (p.Glu258fs)
NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu)
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_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816
NM_018451.5(CENPJ):c.133C>T (p.Arg45Ter) rs786205481
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) rs786205669
NM_018676.4(THSD1):c.670C>T (p.Arg224Ter) rs9536062
NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del) rs730882202
NM_018938.4(PCDHB4):c.915del (p.Lys305fs) rs372292910
NM_018972.4(GDAP1):c.372C>G (p.Tyr124Ter) rs786205590
NM_018972.4(GDAP1):c.431C>T (p.Pro144Leu) rs786205591
NM_018979.4(WNK1):c.2139+2852C>T rs786205473
NM_019108.4(SMG9):c.520_521del (p.Pro174fs) rs869312741
NM_019108.4(SMG9):c.701+4A>G rs869312742
NM_019613.4(WDR45B):c.673C>T (p.Arg225Ter) rs786205510
NM_020184.4(CNNM4):c.734C>T (p.Ser245Leu) rs786205530
NM_020212.2(WDR93):c.280T>C (p.Tyr94His) rs730882204
NM_020223.4(FAM20C):c.1225C>T (p.Arg409Cys) rs730882220
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) rs773734224
NM_020366.3(RPGRIP1):c.2876del (p.Lys959fs) rs786205623
NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214fs) rs730882197
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
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_020751.3(COG6):c.1167-24A>G rs730882236
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter) rs587777132
NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys) rs752274637
NM_020989.4(CRYGC):c.403G>T (p.Glu135Ter) rs750872744
NM_021147.5(CCNO):c.964del (p.Leu322fs)
NM_021807.4(EXOC4):c.1733A>G (p.Gln578Arg) rs730882233
NM_021939.3(FKBP10):c.354del (p.Ile118fs) rs797044559
NM_021939.3(FKBP10):c.917+53G>T rs141387386
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349
NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del) rs786205612
NM_022134.3(GAL3ST2):c.197C>T (p.Thr66Met) rs372108744
NM_022140.5(EPB41L4A):c.1298C>T (p.Ser433Leu) rs730882207
NM_022356.3(P3H1):c.1170+9G>A rs786205443
NM_022455.4(NSD1):c.1824del (p.Lys608fs) rs786205648
NM_022455.4(NSD1):c.2058T>A (p.Tyr686Ter) rs786205576
NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) rs730882241
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217
NM_023073.3(CPLANE1):c.994_996del (p.Met332del)
NM_024101.7(MLPH):c.104G>A (p.Arg35Gln) rs786205551
NM_024101.7(MLPH):c.987del (p.Lys330fs) rs786205641
NM_024301.5(FKRP):c.883C>G (p.Arg295Gly)
NM_024572.4(GALNT14):c.1273C>T (p.Arg425Ter) rs201118996
NM_024596.3(MCPH1):c.1_114del
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024649.5(BBS1):c.830+2T>C
NM_024656.4(COLGALT1):c.173T>C (p.Leu58Pro)
NM_024715.3(TXNDC15):c.103+1G>A rs886039792
NM_024715.3(TXNDC15):c.673_687del (p.Ser225_His229del) rs886039791
NM_024757.5(EHMT1):c.2382+1697T>G rs786205602
NM_024757.5(EHMT1):c.611G>A (p.Arg204His) rs786205601
NM_024782.2(NHEJ1):c.390+1G>C rs786205547
NM_024809.5(TCTN2):c.1852C>T (p.Gln618Ter)
NM_024809.5(TCTN2):c.254_255del (p.Val85fs) rs786205622
NM_024926.4(TTC26):c.788A>G (p.Asn263Ser)
NM_025000.4(DCAF17):c.322-14C>T rs192861143
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.1434C>G (p.Ile478Met) rs886039814
NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr)
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_025214.3(CCDC68):c.775dup (p.Ser259fs)
NM_030582.4(COL18A1):c.2878C>T (p.Gln960Ter) rs786205554
NM_030582.4(COL18A1):c.3283C>T (p.Arg1095Ter) rs753824908
NM_030590.4(MATN4):c.515G>C (p.Gly172Ala) rs730882210
NM_031433.4(MFRP):c.574G>C (p.Glu192Gln) rs786205472
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471
NM_031885.4(BBS2):c.508G>A (p.Asp170Asn) rs786205498
NM_031885.4(BBS2):c.806T>G (p.Val269Gly) rs886039797
NM_031885.5(BBS2):c.365del (p.Ala122fs)
NM_032193.3(RNASEH2C):c.478C>T (p.Gln160Ter) rs771013055
NM_032504.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479
NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter) rs864321622
NM_032504.1(UNC80):c.565G>A (p.Val189Met) rs864321623
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His) rs387907300
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_033402.5(LRRCC1):c.105-1G>C rs886039794
NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu) rs769211787
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly) rs730882223
NM_052989.3(IFT122):c.1715G>T (p.Gly572Val) rs786205566
NM_052989.3(IFT122):c.2375+2T>C rs786205567
NM_057166.5(COL6A3):c.677-1487C>G rs200722892
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_138383.3(MTSS2):c.1790C>T (p.Thr597Met) rs531163149
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213
NM_138425.4(C12orf57):c.1A>G (p.Met1Val) rs587776954
NM_138568.4(EXOC3L2):c.398dup (p.Leu134fs) rs886039793
NM_138694.4(PKHD1):c.2978A>G (p.His993Arg) rs786205582
NM_138694.4(PKHD1):c.4322_4323dup (p.Leu1442fs)
NM_138694.4(PKHD1):c.458T>C (p.Ile153Thr)
NM_138694.4(PKHD1):c.5761_5765del (p.Ser1921fs)
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro)
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter) rs377074720
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554
NM_144508.5(KNL1):c.3634G>A (p.Ala1212Thr) rs533933463
NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr)
NM_147127.5(EVC2):c.3870_3893dup (p.Lys1293_Lys1300dup) rs730882232
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_152385.4(CLHC1):c.1145G>A (p.Arg382Gln) rs144133542
NM_152722.5(HEPACAM):c.757_759del (p.Leu253del) rs786205618
NM_152766.5(TMEM256):c.244_265del (p.Phe82fs) rs886039795
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg) rs730880295
NM_153229.3(TMEM92):c.95+3A>G rs730882247
NM_153240.5(NPHP3):c.3419dup (p.Asn1140fs)
NM_153447.4(NLRP5):c.2274_2275del (p.Trp759fs)
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln) rs886039810
NM_153704.6(TMEM67):c.406G>C (p.Val136Leu)
NM_153704.6(TMEM67):c.739C>G (p.Gln247Glu) rs786205592
NM_153717.3(EVC):c.2450-1G>A
NM_153717.3(EVC):c.770T>A (p.Leu257Gln) rs750565190
NM_153747.2(PIGC):c.659T>C (p.Leu220Pro) rs786205667
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448
NM_172056.2(KCNH2):c.1738G>C (p.Asp580His) rs786205588
NM_172201.1(KCNE2):c.209G>A (p.Ser70Asn) rs751931568
NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp) rs730882203
NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs) rs1589150410
NM_173630.4(RTTN):c.1732G>C (p.Ala578Pro) rs775277800
NM_173630.4(RTTN):c.2885+8A>G rs864321620
NM_173630.4(RTTN):c.3190A>C (p.Lys1064Gln) rs864321621
NM_173630.4(RTTN):c.5750A>G (p.Asp1917Gly) rs780270096
NM_174905.3(FAM98C):c.844C>T (p.Arg282Ter) rs201037487
NM_174916.3(UBR1):c.1258C>A (p.Gln420Lys) rs786205492
NM_177550.4(SLC13A5):c.231+2T>G rs730882222
NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) rs756455049
NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter) rs762826555
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_182914.2(SYNE2):c.4462C>T (p.Gln1488Ter) rs786205488
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_194293.4(XIRP1):c.4495G>A (p.Glu1499Lys) rs369082457
NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) rs749974697
NM_198525.3(KIF7):c.2286_2287insT (p.Gln763fs)
NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile) rs140119177
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_203447.3(DOCK8):c.1797+61A>C rs786205596
NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr) rs786205519
NM_206933.3(USH2A):c.4429G>T (p.Gly1477Ter) rs786205452
NM_207111.4(RNF216):c.2061G>A (p.Lys687=) rs730882248
NM_207312.3(TUBA3E):c.643C>T (p.Arg215Cys) rs730882212
NM_207341.3(ZP1):c.1168del (p.Ile390fs)
NM_213606.4(SLC16A12):c.404C>T (p.Ala135Val) rs786205460
Single allele rs1555293215

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