ClinVar Miner

List of variants reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 687
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HGVS dbSNP
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg) rs1555568318
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu) rs202064195
NM_000044.6(AR):c.2090C>A (p.Ser697Tyr) rs1555995842
NM_000047.2(ARSL):c.337C>T (p.Leu113Phe) rs145946864
NM_000050.4(ASS1):c.805G>A (p.Val269Met) rs370595480
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro) rs72554639
NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His) rs797045348
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp) rs797045362
NM_000052.7(ATP7A):c.2781G>C (p.Lys927Asn) rs797045363
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3294+1G>T rs797045374
NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys) rs797045376
NM_000052.7(ATP7A):c.3800A>T (p.Gln1267Leu) rs797045385
NM_000052.7(ATP7A):c.3801+4A>G rs797045387
NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg) rs797045394
NM_000052.7(ATP7A):c.4187C>T (p.Ser1396Leu) rs797045396
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu) rs1554879846
NM_000112.3(SLC26A2):c.2122_2123CT[3] (p.Phe709fs) rs1554095433
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.4(FANCA):c.826+5_826+9del rs797045570
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) rs587780343
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys) rs1554334579
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331
NM_000162.5(GCK):c.824G>T (p.Arg275Leu) rs767565869
NM_000162.5(GCK):c.908G>A (p.Arg303Gln) rs1312678560
NM_000162.5(GCK):c.98T>A (p.Val33Glu) rs1554335954
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031
NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr) rs780178733
NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val) rs142236065
NM_000207.3(INS):c.308A>G (p.Tyr103Cys) rs121908277
NM_000209.4(PDX1):c.502A>C (p.Asn168His) rs1555241857
NM_000252.2(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.2(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.2(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.2(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.2(MTM1):c.1260+5G>A rs587783769
NM_000252.2(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.2(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.2(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.2(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.2(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.2(MTM1):c.1490C>A (p.Ser497Tyr) rs587783800
NM_000252.2(MTM1):c.342+4A>G rs587783820
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.2(MTM1):c.63+3A>T rs587783844
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.2(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.2(MTM1):c.921_923CTT[1] (p.Phe308del) rs587783862
NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro) rs797045730
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) rs797045838
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) rs797045839
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) rs1554333880
NM_000314.7(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000352.5(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206
NM_000352.5(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.5(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.5(ABCC8):c.2921-9G>A rs757171524
NM_000352.5(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.5(ABCC8):c.4265C>G (p.Ser1422Cys) rs1554904936
NM_000352.5(ABCC8):c.4451G>T (p.Gly1484Val) rs193922405
NM_000352.5(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.5(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.5(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713
NM_000369.2(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.2(TSHR):c.202C>T (p.Pro68Ser) rs142063461
NM_000372.5(TYR):c.101A>C (p.Glu34Ala) rs1555083355
NM_000372.5(TYR):c.1100A>G (p.His367Arg) rs61754384
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys) rs797046082
NM_000372.5(TYR):c.452T>G (p.Ile151Ser) rs747095957
NM_000372.5(TYR):c.635G>A (p.Arg212Lys) rs377209424
NM_000372.5(TYR):c.739T>C (p.Cys247Arg) rs367543068
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.3(APOB):c.11812_11813del (p.Asp3938fs) rs1553382678
NM_000384.3(APOB):c.13025del (p.Pro4342fs) rs797045253
NM_000407.4(GP1BB):c.340C>T (p.Arg114Cys) rs587783648
NM_000426.3(LAMA2):c.6520del (p.Asn2173_Val2174insTer) rs776548207
NM_000430.4(PAFAH1B1):c.1009C>G (p.His337Asp) rs587784236
NM_000430.4(PAFAH1B1):c.1193G>A (p.Gly398Asp) rs587784247
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys) rs587784250
NM_000430.4(PAFAH1B1):c.503G>A (p.Cys168Tyr) rs200390886
NM_000430.4(PAFAH1B1):c.569-3del rs797045863
NM_000430.4(PAFAH1B1):c.671+4A>G rs587784279
NM_000430.4(PAFAH1B1):c.671+5G>A rs587784280
NM_000430.4(PAFAH1B1):c.751A>C (p.Ser251Arg) rs587784287
NM_000430.4(PAFAH1B1):c.899A>G (p.Glu300Gly) rs1555527149
NM_000430.4(PAFAH1B1):c.900G>A (p.Glu300=) rs587784291
NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp) rs587784291
NM_000430.4(PAFAH1B1):c.938C>T (p.Ser313Phe) rs587784293
NM_000430.4(PAFAH1B1):c.965T>G (p.Met322Arg) rs587784294
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000457.4(HNF4A):c.1010_1012TGC[6] (p.Leu341dup) rs776489992
NM_000457.4(HNF4A):c.266G>A (p.Arg89Gln) rs1555813319
NM_000457.4(HNF4A):c.536_538AGA[1] (p.Lys180del) rs1280663753
NM_000457.4(HNF4A):c.806T>C (p.Leu269Pro) rs1555816654
NM_000457.4(HNF4A):c.991C>T (p.Arg331Cys) rs193922479
NM_000462.5(UBE3A):c.1811_1813CTT[1] (p.Ser605del) rs587781234
NM_000521.4(HEXB):c.778T>C (p.Tyr260His) rs1453919511
NM_000525.3(KCNJ11):c.498C>G (p.Cys166Trp) rs587783669
NM_000525.3(KCNJ11):c.536A>C (p.Glu179Ala) rs587783671
NM_000525.3(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753
NM_000525.3(KCNJ11):c.866G>C (p.Gly289Ala) rs797045637
NM_000525.3(KCNJ11):c.866G>T (p.Gly289Val) rs797045637
NM_000525.3(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.2(RYR1):c.14761_14763TTC[3] (p.Phe4924del) rs1064794572
NM_000540.2(RYR1):c.14842C>A (p.Gln4948Lys) rs1555805633
NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.2(RYR1):c.1901C>G (p.Thr634Arg) rs1555769544
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_000540.2(RYR1):c.2870+1G>A rs765241115
NM_000540.2(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup) rs797045933
NM_000540.2(RYR1):c.325C>T (p.Arg109Trp) rs118192173
NM_000540.2(RYR1):c.3801dup (p.Cys1268fs) rs587784374
NM_000540.2(RYR1):c.5910G>C (p.Gln1970His) rs1555780327
NM_000545.6(HNF1A):c.29C>T (p.Thr10Met) rs774637975
NM_000545.6(HNF1A):c.608G>A (p.Arg203His) rs587780357
NM_000545.6(HNF1A):c.676_678del (p.Lys226del) rs1555211927
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.741_742delinsTT (p.Arg248Trp) rs1555525498
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro) rs776174514
NM_000551.3(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000814.6(GABRB3):c.766C>G (p.Leu256Val) rs1555401942
NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001005360.2(DNM2):c.1124T>A (p.Val375Glu) rs587783594
NM_001005360.2(DNM2):c.1567A>G (p.Arg523Gly) rs587783596
NM_001005360.2(DNM2):c.1880C>G (p.Pro627Arg) rs587783598
NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr) rs146312522
NM_001022.4(RPS19):c.356+3A>C rs1555841379
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys) rs1553462134
NM_001040142.2(SCN2A):c.4841T>C (p.Leu1614Pro) rs797045943
NM_001042537.1(SLC9A6):c.526-9_526-5del rs796053290
NM_001048166.1(STIL):c.895T>A (p.Phe299Ile) rs587784452
NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) rs34946978
NM_001072.4(UGT1A6):c.862-6122C>T rs72551343
NM_001072.4(UGT1A6):c.862-6138_862-6115del rs1553620849
NM_001079668.3(NKX2-1):c.635A>C (p.Gln212Pro) rs1555349218
NM_001079846.1(CREBBP):c.3376G>C (p.Ala1126Pro) rs797045492
NM_001079846.1(CREBBP):c.3386A>G (p.Tyr1129Cys) rs587783481
NM_001079846.1(CREBBP):c.37A>G (p.Lys13Glu) rs587783484
NM_001079846.1(CREBBP):c.3800+3G>T rs587783485
NM_001079846.1(CREBBP):c.3908G>C (p.Arg1303Pro) rs587783488
NM_001079846.1(CREBBP):c.4112T>C (p.Phe1371Ser) rs587783492
NM_001079846.1(CREBBP):c.4167-11C>G rs587783493
NM_001079846.1(CREBBP):c.4167G>T (p.Arg1389Ser) rs797045494
NM_001079846.1(CREBBP):c.4262A>G (p.Glu1421Gly) rs587783494
NM_001079846.1(CREBBP):c.4331A>G (p.Tyr1444Cys) rs587783496
NM_001079846.1(CREBBP):c.4922_4924CCT[1] (p.Ser1642del) rs587783502
NM_001079846.1(CREBBP):c.4936T>C (p.Ser1646Pro) rs587783503
NM_001079846.1(CREBBP):c.5298C>A (p.His1766Gln) rs797045496
NM_001079846.1(CREBBP):c.6016_6057del (p.Ala2006_Gln2019del) rs587783511
NM_001080517.2(SETD5):c.3631+1G>T rs1553640838
NM_001080522.2(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001080522.2(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062
NM_001080522.2(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732
NM_001083961.2(WDR62):c.1312C>T (p.Arg438Cys) rs587784542
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543
NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser) rs587784548
NM_001083961.2(WDR62):c.3335+3A>G rs587784554
NM_001083961.2(WDR62):c.3348del (p.Phe1117fs) rs797046109
NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr) rs587784558
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001083962.2(TCF4):c.1760C>T (p.Ala587Val) rs1555710523
NM_001083962.2(TCF4):c.1840G>C (p.Ala614Pro) rs587784462
NM_001083962.2(TCF4):c.1871A>C (p.Gln624Pro) rs797046034
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) rs797046035
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg) rs1555796785
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001098511.2(KIF2A):c.959C>T (p.Thr320Ile) rs1554042050
NM_001100.3(ACTA1):c.413T>A (p.Ile138Asn) rs587780271
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr) rs587780273
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001128849.2(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_001128849.2(SMARCA4):c.3734C>G (p.Ala1245Gly) rs797045984
NM_001128849.2(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu) rs1554769022
NM_001134673.4(NFIA):c.297dup (p.Pro100fs) rs1553149202
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001145661.2(GATA2):c.1054T>C (p.Cys352Arg) rs797045591
NM_001145661.2(GATA2):c.1081C>G (p.Arg361Gly) rs1426175410
NM_001145661.2(GATA2):c.857C>T (p.Ala286Val) rs797045592
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001184.4(ATR):c.5196+1G>A rs1553760567
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile) rs587784299
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) rs1554965669
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717
NM_001197104.1(KMT2A):c.3473G>A (p.Cys1158Tyr) rs1131691503
NM_001197104.1(KMT2A):c.6158+6T>C rs1555045177
NM_001197104.1(KMT2A):c.8543T>C (p.Leu2848Pro) rs1555047266
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187
NM_001253816.1(SLC52A2):c.505C>T (p.Arg169Cys) rs782345472
NM_001253852.3(AP4B1):c.338+5G>A rs1019204290
NM_001256047.1(C19orf12):c.154G>C (p.Ala52Pro) rs376103979
NM_001256047.1(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_001256047.1(C19orf12):c.303G>A (p.Trp101Ter) rs1555714808
NM_001257988.1(TYMP):c.622G>A (p.Val208Met) rs121913039
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) rs587780495
NM_001271208.2(NEB):c.2211+5G>T rs797045736
NM_001271208.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001291415.1(KDM6A):c.2988+2dup rs797045643
NM_001291415.1(KDM6A):c.3791A>G (p.Gln1264Arg) rs797045644
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs) rs1555990958
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val) rs797045540
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn) rs1557265435
NM_001365999.1(SZT2):c.654_655del (p.Asp220fs) rs756942804
NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro) rs797045529
NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr) rs1555409836
NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val) rs1555411305
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) rs11549196
NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile) rs587780275
NM_001754.4(RUNX1):c.557T>A (p.Val186Asp) rs797045927
NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu) rs1555303720
NM_001849.3(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940
NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val) rs774521989
NM_001849.3(COL6A2):c.892G>A (p.Gly298Arg) rs797045478
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_001931.4(DLAT):c.848_849del (p.Asp283Glyfs) rs782704553
NM_001958.4(EEF1A2):c.364G>A (p.Glu122Lys) rs786205866
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp) rs1064797083
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405
NM_002470.4(MYH3):c.1504T>G (p.Tyr502Asp) rs797045727
NM_002485.4(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) rs375305567
NM_002693.2(POLG):c.2869G>C (p.Ala957Pro) rs121918051
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser) rs797045900
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr) rs1555806333
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp) rs1554623112
NM_003070.5(SMARCA2):c.2486C>T (p.Thr829Ile) rs797045974
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln) rs281875188
NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys) rs797045976
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys) rs387906857
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003159.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_003159.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_003165.4(STXBP1):c.433T>C (p.Tyr145His) rs587784455
NM_003165.4(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn) rs797046046
NM_003383.5(VLDLR):c.2T>C (p.Met1Thr) rs797046092
NM_003392.4(WNT5A):c.487G>C (p.Gly163Arg) rs587784562
NM_003466.4(PAX8):c.160A>T (p.Ser54Cys) rs104893660
NM_003482.3(KMT2D):c.16411A>T (p.Arg5471Trp) rs587783700
NM_003482.3(KMT2D):c.16413G>T (p.Arg5471Ser) rs587783702
NM_003482.3(KMT2D):c.16480_16482ATC[3] (p.Ile5497del) rs587783704
NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) rs587784326
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg) rs587784327
NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe) rs587784331
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) rs1555988382
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His) rs535486098
NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg) rs121908681
NM_003560.4(PLA2G6):c.1973A>C (p.Asn658Thr) rs587784340
NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser) rs1555978219
NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser) rs587784341
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347
NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser) rs587784351
NM_003560.4(PLA2G6):c.2396T>A (p.Leu799His) rs587784354
NM_003560.4(PLA2G6):c.478T>C (p.Cys160Arg) rs587784355
NM_003560.4(PLA2G6):c.4C>A (p.Gln2Lys) rs587784356
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr) rs587784359
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup) rs797045889
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363
NM_003560.4(PLA2G6):c.994T>C (p.Cys332Arg) rs587784364
NM_003588.3(CUL4B):c.2687G>A (p.Arg896Gln) rs1556173896
NM_003688.3(CASK):c.2168A>G (p.Tyr723Cys) rs398122844
NM_003688.3(CASK):c.764G>A (p.Arg255His) rs587783369
NM_003730.6(RNASET2):c.710dup (p.Leu238fs) rs763295910
NM_004006.2(DMD):c.6614+3310G>T rs797045526
NM_004187.4(KDM5C):c.1613C>T (p.Pro538Leu) rs587780372
NM_004268.5(MED17):c.571C>T (p.Arg191Trp) rs587780394
NM_004321.7(KIF1A):c.1871G>A (p.Arg624His) rs1553633823
NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_004321.7(KIF1A):c.919C>G (p.Arg307Gly) rs369692236
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000
NM_004429.4(EFNB1):c.131T>C (p.Phe44Ser) rs1556105849
NM_004429.4(EFNB1):c.523C>T (p.Gln175Ter) rs1556107856
NM_004456.4(EZH2):c.2236A>G (p.Arg746Gly) rs587783627
NM_004523.4(KIF11):c.2059del (p.His687fs) rs1554862197
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004722.4(AP4M1):c.32del (p.Lys11fs) rs797045249
NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys) rs1553567411
NM_004826.4(ECEL1):c.1797-8G>A rs1553566820
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) rs1554721235
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) rs150401343
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu) rs797045698
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser) rs786204998
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu) rs1064797186
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr) rs1555321337
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) rs587783643
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr) rs797045597
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_005373.2(MPL):c.1303T>A (p.Trp435Arg) rs1553128241
NM_005445.3(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.3(SMC3):c.2005T>G (p.Tyr669Asp) rs776056911
NM_005445.3(SMC3):c.2338G>C (p.Glu780Gln) rs587784427
NM_005445.3(SMC3):c.2636G>C (p.Arg879Pro) rs797045996
NM_005445.3(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.3(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005445.3(SMC3):c.856_858GAA[3] (p.Glu287dup) rs797045997
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu) rs375737188
NM_005682.7(ADGRG1):c.1508T>C (p.Leu503Pro) rs587783654
NM_005682.7(ADGRG1):c.1868G>C (p.Trp623Ser) rs587783656
NM_005682.7(ADGRG1):c.768G>C (p.Glu256Asp) rs532188689
NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del) rs1555475375
NM_005861.4(STUB1):c.721C>G (p.Arg241Gly) rs760424025
NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter) rs369521689
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118
NM_006005.3(WFS1):c.1237_1239TTC[1] (p.Phe414del) rs797046112
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797
NM_006005.3(WFS1):c.1692_1697CCTCTT[1] (p.565_566LF[1]) rs797046113
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val) rs587784481
NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala) rs1555162294
NM_006009.4(TUBA1A):c.1148C>T (p.Ala383Val) rs587784482
NM_006009.4(TUBA1A):c.1204C>A (p.Arg402Ser) rs587784483
NM_006009.4(TUBA1A):c.1274T>A (p.Met425Lys) rs587784484
NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala) rs1555162242
NM_006009.4(TUBA1A):c.152C>T (p.Thr51Ile) rs587784485
NM_006009.4(TUBA1A):c.162T>A (p.Ser54Arg) rs587784486
NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly) rs797046072
NM_006009.4(TUBA1A):c.368G>A (p.Arg123His) rs1555162456
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg) rs587784492
NM_006009.4(TUBA1A):c.808G>T (p.Ala270Ser) rs587784494
NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu) rs797046073
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr) rs587784497
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro) rs797045264
NM_006031.6(PCNT):c.2155-21_2186del rs1555959737
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter) rs1474939581
NM_006306.3(SMC1A):c.1136_1138AAG[2] (p.Glu381del) rs797045991
NM_006306.3(SMC1A):c.1267C>A (p.Gln423Lys) rs587784404
NM_006306.3(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.3(SMC1A):c.1754T>C (p.Leu585Pro) rs587784406
NM_006306.3(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.3(SMC1A):c.2046_2048del (p.Glu684del) rs797045992
NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.3(SMC1A):c.2327T>A (p.Val776Glu) rs587784410
NM_006306.3(SMC1A):c.3070A>T (p.Asn1024Tyr) rs587784415
NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.3(SMC1A):c.3557T>C (p.Val1186Ala) rs587784419
NM_006306.3(SMC1A):c.421G>A (p.Glu141Lys) rs587784420
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006516.3(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu) rs104894936
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006579.3(EBP):c.201_203dup (p.Cys67dup) rs797045542
NM_006579.3(EBP):c.204G>T (p.Trp68Cys) rs587783601
NM_006579.3(EBP):c.214T>C (p.Cys72Arg) rs587783602
NM_006579.3(EBP):c.218G>A (p.Gly73Glu) rs587783603
NM_006579.3(EBP):c.299T>C (p.Leu100Pro) rs587783605
NM_006579.3(EBP):c.303G>T (p.Trp101Cys) rs587783607
NM_006579.3(EBP):c.311A>G (p.Tyr104Cys) rs587783610
NM_006579.3(EBP):c.314C>A (p.Ala105Asp) rs587783611
NM_006579.3(EBP):c.320G>A (p.Gly107Glu) rs587783612
NM_006579.3(EBP):c.331T>C (p.Tyr111His) rs587783614
NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly) rs797045545
NM_006579.3(EBP):c.481G>A (p.Gly161Arg) rs587783617
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006579.3(EBP):c.527A>G (p.His176Arg) rs587783618
NM_006579.3(EBP):c.632T>G (p.Leu211Arg) rs587783619
NM_006772.3(SYNGAP1):c.3722_3723del (p.Leu1241fs) rs1554122735
NM_006920.6(SCN1A):c.2782C>G (p.His928Asp) rs121918736
NM_006920.6(SCN1A):c.5401T>G (p.Trp1801Gly) rs121918751
NM_006920.6(SCN1A):c.719T>C (p.Leu240Pro) rs797045941
NM_006946.3(SPTBN2):c.181A>G (p.Lys61Glu) rs797046006
NM_007075.3(WDR45):c.1033A>G (p.Asn345Asp) rs797046100
NM_007075.3(WDR45):c.969dup (p.Val324fs) rs797046105
NM_007175.8(ERLIN2):c.557_557+10delinsCCTGGCTGTGACCTGGGCTGTGA rs1554517382
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) rs781053477
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_013328.4(PYCR2):c.139-2A>C rs1553500497
NM_013334.3(GMPPB):c.1069G>A (p.Val357Ile) rs199922550
NM_013334.3(GMPPB):c.553C>T (p.Arg185Cys) rs397509425
NM_013382.5(POMT2):c.1006+5G>A rs587780422
NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs) rs1555356398
NM_013382.5(POMT2):c.881A>G (p.Tyr294Cys) rs587780423
NM_014009.3(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014009.3(FOXP3):c.434C>T (p.Ala145Val) rs782528935
NM_014191.4(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_014191.4(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_014191.4(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr) rs1555762722
NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly) rs756235299
NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn) rs200089121
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014704.4(CEP104):c.49del (p.Asp17fs) rs1334483830
NM_014749.5(KIAA0586):c.3848_3849CT[2] (p.Met1286fs) rs867342730
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys) rs119475041
NM_014915.2(ANKRD26):c.-119C>G rs1554800065
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) rs797045068
NM_015100.4(POGZ):c.2604del (p.Asn869fs) rs1553213126
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs) rs797045918
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_015681.5(B9D1):c.341+2T>C rs143149764
NM_015922.3(NSDHL):c.1114del (p.Val372fs) rs587784222
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys) rs587784223
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg) rs797045970
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016222.4(DDX41):c.1016G>T (p.Arg339Leu) rs774698335
NM_016434.3(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096
NM_017780.4(CHD7):c.4353+3A>G rs587783441
NM_017780.4(CHD7):c.5450T>G (p.Phe1817Cys) rs587783445
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_018051.5(WDR60):c.1162del (p.Cys388fs) rs1554460624
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380
NM_018082.6(POLR3B):c.1612_1614del (p.Leu538del) rs797045895
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys) rs751459271
NM_018122.5(DARS2):c.259G>A (p.Asp87Asn) rs1209550754
NM_018136.5(ASPM):c.5532T>G (p.Tyr1844Ter) rs797045314
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His) rs201088712
NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup) rs776528706
NM_018486.3(HDAC8):c.556G>A (p.Glu186Lys) rs797045612
NM_018486.3(HDAC8):c.770C>A (p.Pro257His) rs797045613
NM_018941.3(CLN8):c.470A>G (p.His157Arg) rs149308952
NM_019066.5(MAGEL2):c.37_38insAC (p.Pro13fs) rs1250752332
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln) rs763311061
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met) rs578189699
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp) rs140246430
NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs) rs756696262
NM_020320.5(RARS2):c.370del (p.Gln124fs) rs1554203400
NM_020361.5(CPA6):c.931C>T (p.Arg311Ter) rs139145929
NM_020435.4(GJC2):c.1175C>G (p.Ser392Cys) rs1356633840
NM_020451.3(SELENON):c.827_829dup (p.Cys277_Leu278insSer) rs797045950
NM_020549.4(CHAT):c.620G>A (p.Arg207His) rs764497513
NM_020549.4(CHAT):c.635T>A (p.Val212Asp) rs1554802792
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020732.3(ARID1B):c.4336C>T (p.Gln1446Ter) rs797045278
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) rs1555499800
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) rs797045599
NM_022095.4(ZNF335):c.2515_2518dup (p.Thr840fs) rs797046124
NM_022455.4(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.4(NSD1):c.4844A>C (p.Tyr1615Ser) rs398124378
NM_022455.4(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437
NM_022455.4(NSD1):c.5021G>A (p.Cys1674Tyr) rs587784135
NM_022455.4(NSD1):c.5069C>G (p.Pro1690Arg) rs1554200207
NM_022455.4(NSD1):c.5198G>A (p.Cys1733Tyr) rs587784140
NM_022455.4(NSD1):c.5390T>C (p.Leu1797Pro) rs587784144
NM_022455.4(NSD1):c.5419A>C (p.Thr1807Pro) rs587784146
NM_022455.4(NSD1):c.5471A>G (p.Asp1824Gly) rs587784150
NM_022455.4(NSD1):c.5741G>C (p.Arg1914Pro) rs587784155
NM_022455.4(NSD1):c.5798A>G (p.Asn1933Ser) rs587784156
NM_022455.4(NSD1):c.5918G>T (p.Gly1973Val) rs587784166
NM_022455.4(NSD1):c.5927T>A (p.Ile1976Lys) rs587784167
NM_022455.4(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.4(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.4(NSD1):c.6043T>C (p.Tyr2015His) rs587784175
NM_022455.4(NSD1):c.6080G>C (p.Cys2027Ser) rs587784180
NM_022455.4(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
NM_022455.4(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.4(NSD1):c.6418A>G (p.Lys2140Glu) rs587784196
NM_022455.4(NSD1):c.6485A>C (p.His2162Pro) rs587784204
NM_022455.4(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.4(NSD1):c.6542_6544dup (p.Ser2181dup) rs797045833
NM_022455.4(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_022455.4(NSD1):c.6630_6644del (p.Asn2211_Pro2215del) rs587784211
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr) rs1554162301
NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023110.2(FGFR1):c.2059G>C (p.Gly687Arg) rs727505376
NM_024022.3(TMPRSS3):c.1276G>A (p.Ala426Thr) rs56264519
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) rs587783733
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu) rs587783741
NM_024747.5(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del) rs1554908290
NM_024790.6(CSPP1):c.2205C>A (p.Tyr735Ter) rs1402669959
NM_024884.3(L2HGDH):c.584A>G (p.Tyr195Cys) rs887386390
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter) rs1361547443
NM_025099.6(CTC1):c.2951_2953GTT[1] (p.Cys985del) rs199473679
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg) rs797046051
NM_025265.4(TSEN2):c.138_140CAA[1] (p.Asn48del) rs797046052
NM_030954.4(RNF170):c.640A>G (p.Ile214Val) rs587780441
NM_032043.2(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_033071.3(SYNE1):c.1954-2A>G rs1554753528
NM_033164.4(FGF8):c.595_596dup (p.His200fs) rs1554834303
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639
NM_130468.3(CHST14):c.784G>A (p.Glu262Lys) rs1247205097
NM_130838.3(UBE3A):c.1634G>A (p.Gly545Glu) rs587784516
NM_130838.3(UBE3A):c.1688A>G (p.Asp563Gly) rs587784518
NM_130838.3(UBE3A):c.1763A>G (p.Gln588Arg) rs587782919
NM_130838.3(UBE3A):c.2503C>T (p.Leu835Phe) rs587783097
NM_130838.3(UBE3A):c.388_399del (p.Ile130_Val133del) rs587784531
NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu) rs587783887
NM_133433.4(NIPBL):c.1496-8A>G rs797045747
NM_133433.4(NIPBL):c.201_212del (p.His67_Asn70del) rs587783893
NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro) rs587783895
NM_133433.4(NIPBL):c.3122-2A>G rs587783918
NM_133433.4(NIPBL):c.3137C>A (p.Ser1046Ter) rs1554019663
NM_133433.4(NIPBL):c.3304+5G>A rs80358356
NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln) rs587783921
NM_133433.4(NIPBL):c.345A>G (p.Arg115=) rs587783922
NM_133433.4(NIPBL):c.358+5G>C rs587783928
NM_133433.4(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del) rs587783931
NM_133433.4(NIPBL):c.3818T>G (p.Ile1273Ser) rs587783932
NM_133433.4(NIPBL):c.3855+5G>A rs80358378
NM_133433.4(NIPBL):c.3856-7_3856-5del rs797045757
NM_133433.4(NIPBL):c.4320+2dup rs797045758
NM_133433.4(NIPBL):c.4421G>C (p.Arg1474Thr) rs587783947
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.5327A>T (p.Gln1776Leu) rs587783966
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln) rs80358366
NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly) rs587783977
NM_133433.4(NIPBL):c.5566A>G (p.Arg1856Gly) rs80358373
NM_133433.4(NIPBL):c.5732A>C (p.Gln1911Pro) rs587783982
NM_133433.4(NIPBL):c.5921_5923TTG[1] (p.Val1975del) rs587783987
NM_133433.4(NIPBL):c.5923G>T (p.Val1975Phe) rs587783986
NM_133433.4(NIPBL):c.6158T>C (p.Leu2053Pro) rs587783997
NM_133433.4(NIPBL):c.6170T>C (p.Leu2057Pro) rs587783998
NM_133433.4(NIPBL):c.6242G>T (p.Gly2081Val) rs587784000
NM_133433.4(NIPBL):c.6250G>T (p.Val2084Leu) rs587784002
NM_133433.4(NIPBL):c.6266T>G (p.Val2089Gly) rs587784003
NM_133433.4(NIPBL):c.6316G>C (p.Val2106Leu) rs587784004
NM_133433.4(NIPBL):c.6343G>A (p.Gly2115Ser) rs587784007
NM_133433.4(NIPBL):c.6362_6364del (p.Lys2121del) rs587784008
NM_133433.4(NIPBL):c.64+5G>A rs587784011
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6629_6631AAG[1] (p.Glu2211del) rs587784019
NM_133433.4(NIPBL):c.6800T>G (p.Met2267Arg) rs797045779
NM_133433.4(NIPBL):c.6935G>T (p.Gly2312Val) rs587784025
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7141G>A (p.Gly2381Ser) rs587784035
NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser) rs80358384
NM_133433.4(NIPBL):c.7306G>A (p.Ala2436Thr) rs587784039
NM_133433.4(NIPBL):c.7336_7338del (p.Pro2446del) rs587784040
NM_133433.4(NIPBL):c.8173G>C (p.Ala2725Pro) rs587784053
NM_133433.4(NIPBL):c.8296_8300delinsTT (p.Ile2766_Lys2767delinsLeu) rs797045788
NM_138712.3(PPARG):c.1268T>C (p.Leu423Pro) rs1553653993
NM_138712.3(PPARG):c.386A>G (p.Glu129Gly) rs1553643326
NM_138712.3(PPARG):c.497G>A (p.Arg166Gln) rs148195788
NM_138712.3(PPARG):c.551G>A (p.Arg184Gln) rs1553647989
NM_138712.3(PPARG):c.887T>C (p.Ile296Thr) rs1378972597
NM_139058.3(ARX):c.1121T>A (p.Val374Asp) rs587783183
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys) rs587783184
NM_139058.3(ARX):c.426_461dup (p.Gly143_Ala154dup) rs1556056131
NM_152263.4(TPM3):c.734G>T (p.Arg245Ile) rs797046047
NM_152296.5(ATP1A3):c.1004C>A (p.Thr335Lys) rs1131691940
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2401G>C (p.Asp801His) rs80356537
NM_152384.3(BBS5):c.966dup (p.Ala323fs) rs1553529427
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152701.5(ABCA13):c.11473+2T>C rs797045205
NM_152783.5(D2HGDH):c.1306+2T>C rs797045507
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.748G>A (p.Gly250Arg) rs587779736
NM_170589.5(KNL1):c.4823_4824delinsC (p.Leu1608fs) rs1555420891
NM_170589.5(KNL1):c.772del (p.Asp258fs) rs797045430
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) rs267607644
NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe) rs1553265739
NM_170707.4(LMNA):c.1147_1149GAG[2] (p.Glu385del) rs1553265761
NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro) rs267607576
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer) rs1553264624
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) rs267607570
NM_170707.4(LMNA):c.790_792del (p.Glu264del) rs1553265369
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn) rs267607591
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro) rs730882262
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp) rs797044938
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val) rs797045638
NM_173495.3(PTCHD1):c.893G>A (p.Trp298Ter) rs1555912102
NM_173560.4(RFX6):c.541C>T (p.Arg181Trp) rs587780440
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) rs1553847993
NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu) rs587784498
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg) rs797046075
NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu) rs1554126925
NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys) rs1554126886
NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe) rs587784502
NM_178152.3(DCX):c.167G>C (p.Arg56Pro) rs587783525
NM_178152.3(DCX):c.170T>G (p.Phe57Cys) rs587783526
NM_178152.3(DCX):c.185A>G (p.Asp62Gly) rs587783528
NM_178152.3(DCX):c.187C>T (p.Arg63Cys) rs587783529
NM_178152.3(DCX):c.191A>G (p.Tyr64Cys) rs587783530
NM_178152.3(DCX):c.195C>A (p.Phe65Leu) rs587783531
NM_178152.3(DCX):c.226C>T (p.Arg76Cys) rs587783534
NM_178152.3(DCX):c.299G>A (p.Gly100Glu) rs587783538
NM_178152.3(DCX):c.313_315dup (p.Tyr105dup) rs797045513
NM_178152.3(DCX):c.337A>T (p.Ile113Phe) rs587783542
NM_178152.3(DCX):c.377T>A (p.Val126Asp) rs587783546
NM_178152.3(DCX):c.380G>A (p.Cys127Tyr) rs587783547
NM_178152.3(DCX):c.551T>A (p.Ile184Asn) rs587783561
NM_178152.3(DCX):c.571C>A (p.Pro191Thr) rs587783565
NM_178152.3(DCX):c.596T>C (p.Leu199Pro) rs587783569
NM_178152.3(DCX):c.614A>T (p.His205Leu) rs587783572
NM_178152.3(DCX):c.688A>C (p.Thr230Pro) rs587783581
NM_178152.3(DCX):c.724T>A (p.Phe242Ile) rs587783582
NM_178152.3(DCX):c.746T>G (p.Phe249Cys) rs587783584
NM_178152.3(DCX):c.773G>C (p.Arg258Pro) rs587783587
NM_181523.3(PIK3R1):c.1106C>T (p.Thr369Ile) rs587784325
NM_181742.3(ORC4):c.521A>G (p.Tyr174Cys) rs387906847
NM_183050.4(BCKDHB):c.1119del (p.Phe374fs) rs797045411
NM_183356.3(ASNS):c.1030+1G>A rs780288372
NM_198253.2(TERT):c.1620C>G (p.Ile540Met) rs797046041
NM_198253.2(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.2(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.2(TERT):c.2058C>G (p.Ile686Met) rs745590324
NM_198253.2(TERT):c.2227C>T (p.Arg743Trp) rs1388515349
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_207346.3(TSEN54):c.1511T>C (p.Leu504Pro) rs587784477
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
NM_213622.4(STAMBP):c.1119-6T>G rs797046015
NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly) rs397509387
NR_001566.1(TERC):n.306T>G rs1553915591
NR_001566.1(TERC):n.443C>A rs1553915577

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