ClinVar Miner

List of variants reported as likely benign for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 591
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HGVS dbSNP
NG_013224.2:g.(?_4960)_(103567_105489)dup
NM_000033.3(ABCD1):c.*123C>T rs186542134
NM_000033.3(ABCD1):c.*473C>T rs782343473
NM_000033.3(ABCD1):c.*564G>A rs782819878
NM_000033.3(ABCD1):c.*668C>T rs187420166
NM_000033.3(ABCD1):c.*985C>G rs782309410
NM_000033.3(ABCD1):c.-202C>G rs781978041
NM_000033.3(ABCD1):c.1215G>A (p.Ser405=) rs138233092
NM_000033.3(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.3(ABCD1):c.1404G>A (p.Val468=) rs782072629
NM_000033.3(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.3(ABCD1):c.1467G>A (p.Val489=) rs782516659
NM_000033.3(ABCD1):c.1489-6delC rs398123101
NM_000033.3(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.3(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.3(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.3(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261
NM_000033.3(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.3(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.3(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.3(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.901-10C>T rs2269365
NM_000052.6(ATP7A):c.1156A>G (p.Met386Val) rs369419911
NM_000052.6(ATP7A):c.1270C>T (p.Leu424=) rs139000596
NM_000052.6(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.6(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433
NM_000052.6(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.6(ATP7A):c.2172+7G>T rs782433802
NM_000052.6(ATP7A):c.219T>C (p.Ala73=) rs1557231581
NM_000052.6(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.6(ATP7A):c.2490C>T (p.Ile830=) rs368261204
NM_000052.6(ATP7A):c.2499-9T>C rs1557235070
NM_000052.6(ATP7A):c.2532T>G (p.Arg844=) rs782315761
NM_000052.6(ATP7A):c.2556A>T (p.Pro852=) rs781950120
NM_000052.6(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236
NM_000052.6(ATP7A):c.2948C>T (p.Thr983Met) rs782094358
NM_000052.6(ATP7A):c.3168G>T (p.Val1056=) rs371089220
NM_000052.6(ATP7A):c.3374A>G (p.Asn1125Ser) rs782764064
NM_000052.6(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.6(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186
NM_000052.6(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.6(ATP7A):c.4226+9G>A rs1557239012
NM_000052.6(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138
NM_000052.6(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.6(ATP7A):c.922A>G (p.Ile308Val) rs782351352
NM_000108.4(DLD):c.*1688G>A rs8440
NM_000108.4(DLD):c.*855C>T rs116055514
NM_000108.4(DLD):c.*947G>T rs7777259
NM_000108.4(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.4(DLD):c.684+7G>A rs75123588
NM_000108.4(DLD):c.685-14T>A rs80111449
NM_000156.5(GAMT):c.*146A>C rs659455
NM_000156.5(GAMT):c.*151T>C rs659460
NM_000156.5(GAMT):c.*276C>T rs266810
NM_000156.5(GAMT):c.*311C>G rs266811
NM_000156.5(GAMT):c.571-6G>A rs2074899
NM_000156.5(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000202.5(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000252.2(MTM1):c.1119G>A (p.Val373=) rs941979306
NM_000252.2(MTM1):c.1713T>C (p.Leu571=) rs1557415142
NM_000252.2(MTM1):c.232-7A>G rs373045797
NM_000252.2(MTM1):c.423G>A (p.Ala141=) rs377311110
NM_000276.3(OCRL):c.2427G>A (p.Gln809=) rs145277867
NM_000489.3(ATRX):c.4377_4379delGGA (p.Glu1464del) rs398123423
NM_000489.4(ATRX):c.1077G>T (p.Leu359=) rs782504858
NM_000489.4(ATRX):c.1256C>T (p.Ala419Val) rs374958282
NM_000489.4(ATRX):c.2064A>G (p.Lys688=) rs781991929
NM_000489.4(ATRX):c.222A>G (p.Ser74=) rs782427200
NM_000489.4(ATRX):c.2859A>G (p.Thr953=) rs782180867
NM_000489.4(ATRX):c.2968G>A (p.Glu990Lys) rs376883807
NM_000489.4(ATRX):c.3559A>G (p.Asn1187Asp) rs782146598
NM_000489.4(ATRX):c.3801T>C (p.Pro1267=) rs149717199
NM_000489.4(ATRX):c.4350_4352delAGA (p.Glu1464del) rs587780288
NM_000489.4(ATRX):c.546A>G (p.Gln182=) rs375794120
NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.4(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.4(ATRX):c.6240C>T (p.Asn2080=) rs1557069232
NM_000489.4(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.5(ATRX):c.1625T>C (p.Val542Ala) rs782158232
NM_000489.5(ATRX):c.1878A>G (p.Lys626=) rs1557140595
NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.2763C>T (p.Val921=) rs782004945
NM_000489.5(ATRX):c.2901A>G (p.Lys967=) rs782680197
NM_000489.5(ATRX):c.3210A>G (p.Lys1070=) rs782634074
NM_000489.5(ATRX):c.3228T>A (p.Ser1076=) rs1205167045
NM_000489.5(ATRX):c.3987A>G (p.Glu1329=) rs147160114
NM_000489.5(ATRX):c.480C>T (p.Arg160=) rs1422750101
NM_000489.5(ATRX):c.5406A>G (p.Lys1802=) rs1200376246
NM_000489.5(ATRX):c.5799A>G (p.Lys1933=) rs1557085918
NM_000489.5(ATRX):c.6927T>A (p.Ile2309=) rs1557041797
NM_000489.5(ATRX):c.913A>G (p.Ser305Gly) rs782778928
NM_000531.5(OTC):c.*106G>A rs766318571
NM_000531.5(OTC):c.-48G>T rs182454762
NM_000531.5(OTC):c.216+9C>T rs774764719
NM_000531.5(OTC):c.298+5G>C rs72554348
NM_000531.5(OTC):c.360G>A (p.Val120=) rs768780957
NM_000531.5(OTC):c.621C>T (p.Ser207=) rs72558415
NM_000531.5(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.5(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000925.3(PDHB):c.*407_*408delAA rs35161513
NM_001001344.2(ATP2B3):c.3518C>T (p.Ala1173Val) rs149428057
NM_001008537.2(NEXMIF):c.1983C>T (p.His661=) rs138583612
NM_001008537.2(NEXMIF):c.206C>T (p.Ser69Phe) rs201351157
NM_001008537.2(NEXMIF):c.2130G>A (p.Lys710=) rs749479992
NM_001008537.2(NEXMIF):c.2951A>G (p.Asn984Ser) rs375623451
NM_001008537.2(NEXMIF):c.3378G>A (p.Glu1126=) rs770681599
NM_001008537.2(NEXMIF):c.3812T>C (p.Met1271Thr) rs138236888
NM_001008537.2(NEXMIF):c.4205A>G (p.Asn1402Ser) rs140532942
NM_001008537.2(NEXMIF):c.4338G>A (p.Lys1446=) rs200805356
NM_001008537.2(NEXMIF):c.4368C>A (p.Ala1456=) rs781623230
NM_001018113.2(FANCB):c.*33T>C rs187611308
NM_001018113.2(FANCB):c.*66T>G rs143434225
NM_001018113.2(FANCB):c.-232G>A rs756766337
NM_001018113.2(FANCB):c.1310C>T (p.Thr437Met) rs772802668
NM_001018113.2(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.2(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.2(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.2(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.2(FANCB):c.2411A>G (p.Asp804Gly) rs148257882
NM_001018113.2(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.2(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.2(FANCB):c.69T>C (p.Leu23=) rs151173533
NM_001018113.2(FANCB):c.869T>C (p.Met290Thr) rs754552650
NM_001037343.1(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001105243.1(PCDH19):c.2655C>T (p.Asn885=) rs193148631
NM_001105243.1(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001110556.1(FLNA):c.4060G>A (p.Asp1354Asn) rs377390031
NM_001110556.1(FLNA):c.6612C>T (p.Pro2204=) rs375499070
NM_001122606.1(LAMP2):c.1093+2514G>A rs144140265
NM_001142386.2(PDK3):c.1083T>C (p.Leu361=) rs746261967
NM_001142386.2(PDK3):c.1228A>C (p.Lys410Gln) rs141326782
NM_001142386.2(PDK3):c.249-8C>T rs1231289510
NM_001142386.2(PDK3):c.336G>C (p.Leu112=) rs372442017
NM_001142386.2(PDK3):c.751-10A>G rs372774822
NM_001142386.2(PDK3):c.798C>A (p.Gly266=) rs1250656724
NM_001184880.1(PCDH19):c.1092G>A (p.Pro364=) rs761099954
NM_001184880.1(PCDH19):c.1294A>G (p.Met432Val) rs200728466
NM_001184880.1(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001184880.1(PCDH19):c.1407C>A (p.Gly469=) rs1060504502
NM_001184880.1(PCDH19):c.1434C>T (p.Arg478=) rs137962077
NM_001184880.1(PCDH19):c.1485G>A (p.Ser495=) rs184770215
NM_001184880.1(PCDH19):c.165C>G (p.Pro55=) rs1002430549
NM_001184880.1(PCDH19):c.1815C>T (p.Tyr605=) rs1057521256
NM_001184880.1(PCDH19):c.1968T>A (p.Ala656=) rs776150934
NM_001184880.1(PCDH19):c.1971C>G (p.Leu657=) rs770353924
NM_001184880.1(PCDH19):c.2024T>G (p.Val675Gly) rs780704524
NM_001184880.1(PCDH19):c.2037G>A (p.Leu679=) rs1060504503
NM_001184880.1(PCDH19):c.2052C>T (p.Ala684=) rs1555984966
NM_001184880.1(PCDH19):c.2419C>T (p.Leu807=) rs1555984464
NM_001184880.1(PCDH19):c.2790T>C (p.Ala930=) rs375759744
NM_001184880.1(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001184880.1(PCDH19):c.2994T>C (p.Thr998=) rs745398684
NM_001184880.1(PCDH19):c.3078G>A (p.Pro1026=) rs1358480010
NM_001184880.1(PCDH19):c.3120T>C (p.Asp1040=) rs199702403
NM_001184880.1(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.1(PCDH19):c.3204C>T (p.Pro1068=) rs377415279
NM_001184880.1(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927
NM_001184880.1(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.1(PCDH19):c.543C>A (p.Arg181=) rs780266148
NM_001184880.1(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.1(PCDH19):c.789C>T (p.Ser263=) rs1338518342
NM_001184880.1(PCDH19):c.846C>T (p.Asn282=) rs750813033
NM_001184880.1(PCDH19):c.942G>A (p.Leu314=) rs773740606
NM_001199981.1(NDUFS1):c.1143A>G (p.Arg381=) rs1801318
NM_001199981.1(NDUFS1):c.858G>T (p.Ala286=) rs1127566
NM_001456.3(FLNA):c.1120G>A (p.Val374Met) rs201681328
NM_001456.3(FLNA):c.1356C>T (p.Gly452=) rs782437864
NM_001456.3(FLNA):c.1761G>A (p.Glu587=) rs377261686
NM_001456.3(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001456.3(FLNA):c.1815C>T (p.Asp605=) rs781821848
NM_001456.3(FLNA):c.1902C>T (p.Arg634=) rs782136908
NM_001456.3(FLNA):c.2019C>T (p.Asp673=) rs1557178734
NM_001456.3(FLNA):c.2027A>G (p.Lys676Arg) rs781798819
NM_001456.3(FLNA):c.2178C>T (p.Asn726=) rs371501734
NM_001456.3(FLNA):c.2205C>T (p.Tyr735=) rs782551055
NM_001456.3(FLNA):c.2309A>G (p.Asn770Ser) rs1557178374
NM_001456.3(FLNA):c.2310C>T (p.Asn770=) rs202109957
NM_001456.3(FLNA):c.2389G>A (p.Ala797Thr) rs201073998
NM_001456.3(FLNA):c.2405-4G>A rs368187218
NM_001456.3(FLNA):c.2466C>T (p.Ile822=) rs878854461
NM_001456.3(FLNA):c.2505G>A (p.Thr835=) rs782013801
NM_001456.3(FLNA):c.2706T>C (p.Ala902=) rs781842762
NM_001456.3(FLNA):c.2982A>G (p.Lys994=) rs782056982
NM_001456.3(FLNA):c.3147C>T (p.Gly1049=) rs398123615
NM_001456.3(FLNA):c.3225G>A (p.Pro1075=) rs782292169
NM_001456.3(FLNA):c.3246G>A (p.Ala1082=) rs373036085
NM_001456.3(FLNA):c.3255C>T (p.Pro1085=) rs782231907
NM_001456.3(FLNA):c.333C>T (p.Leu111=) rs782684723
NM_001456.3(FLNA):c.3612G>A (p.Pro1204=) rs782273962
NM_001456.3(FLNA):c.373+10G>A rs368292402
NM_001456.3(FLNA):c.3768C>T (p.Ser1256=) rs782528841
NM_001456.3(FLNA):c.3864C>T (p.Thr1288=) rs374068639
NM_001456.3(FLNA):c.3909C>T (p.Asn1303=) rs1060504018
NM_001456.3(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001456.3(FLNA):c.3939C>T (p.Gly1313=) rs374178910
NM_001456.3(FLNA):c.4017C>T (p.Pro1339=) rs781934382
NM_001456.3(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130
NM_001456.3(FLNA):c.4155G>T (p.Thr1385=) rs782110572
NM_001456.3(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001456.3(FLNA):c.4263C>T (p.Thr1421=) rs398123618
NM_001456.3(FLNA):c.4344G>A (p.Ala1448=) rs782529594
NM_001456.3(FLNA):c.4368C>T (p.Pro1456=) rs782080545
NM_001456.3(FLNA):c.444C>T (p.Tyr148=) rs935727195
NM_001456.3(FLNA):c.4594C>T (p.Arg1532Trp) rs782563345
NM_001456.3(FLNA):c.4659C>T (p.Pro1553=) rs375163471
NM_001456.3(FLNA):c.4917C>T (p.Thr1639=) rs370608721
NM_001456.3(FLNA):c.4945+3G>A rs372673802
NM_001456.3(FLNA):c.5100C>T (p.Phe1700=) rs368399445
NM_001456.3(FLNA):c.5227C>T (p.Pro1743Ser) rs56102764
NM_001456.3(FLNA):c.5289+4C>T rs377330443
NM_001456.3(FLNA):c.543G>C (p.Pro181=) rs201486643
NM_001456.3(FLNA):c.5451C>T (p.Asp1817=) rs1057521451
NM_001456.3(FLNA):c.5586C>T (p.Ala1862=) rs782040591
NM_001456.3(FLNA):c.5763G>A (p.Pro1921=) rs376974488
NM_001456.3(FLNA):c.5837-9C>T rs782153045
NM_001456.3(FLNA):c.5928G>A (p.Thr1976=) rs782618234
NM_001456.3(FLNA):c.5943G>A (p.Pro1981=) rs372351673
NM_001456.3(FLNA):c.6195C>T (p.Arg2065=) rs782365685
NM_001456.3(FLNA):c.622+10C>T rs781889769
NM_001456.3(FLNA):c.6297C>T (p.Cys2099=) rs1060504017
NM_001456.3(FLNA):c.6326A>G (p.Asn2109Ser) rs375205247
NM_001456.3(FLNA):c.6384C>A (p.Gly2128=) rs1004981975
NM_001456.3(FLNA):c.6479-8C>T rs1288120261
NM_001456.3(FLNA):c.6516C>T (p.Ser2172=) rs781992483
NM_001456.3(FLNA):c.6540C>G (p.Ala2180=) rs782053327
NM_001456.3(FLNA):c.6867T>C (p.Tyr2289=) rs1557175875
NM_001456.3(FLNA):c.6870G>C (p.Val2290=) rs878854462
NM_001456.3(FLNA):c.6927C>T (p.Pro2309=) rs782356784
NM_001456.3(FLNA):c.6960G>A (p.Pro2320=) rs374786760
NM_001456.3(FLNA):c.6969C>T (p.Asp2323=) rs201153928
NM_001456.3(FLNA):c.7140T>C (p.Tyr2380=) rs1557175472
NM_001456.3(FLNA):c.7251T>C (p.His2417=) rs781857682
NM_001456.3(FLNA):c.7281C>T (p.Tyr2427=) rs782750091
NM_001456.3(FLNA):c.7302T>C (p.Gly2434=) rs1026564714
NM_001456.3(FLNA):c.7338G>A (p.Thr2446=) rs369179210
NM_001456.3(FLNA):c.7341C>G (p.Ser2447Arg) rs199677057
NM_001456.3(FLNA):c.7625C>T (p.Pro2542Leu) rs371724771
NM_001456.3(FLNA):c.897G>A (p.Lys299=) rs782195984
NM_001456.3(FLNA):c.933T>G (p.Ala311=) rs782592312
NM_001456.3(FLNA):c.93C>T (p.Thr31=) rs1436289913
NM_001931.4(DLAT):c.*1109C>T rs75608010
NM_001931.4(DLAT):c.*873T>C rs73568056
NM_001931.4(DLAT):c.*96C>A rs534753
NM_001931.4(DLAT):c.-156C>G rs115067052
NM_001931.4(DLAT):c.-157G>A rs587688778
NM_001931.4(DLAT):c.-598C>T rs78298568
NM_001931.4(DLAT):c.-637G>A rs114863504
NM_001931.4(DLAT):c.144G>A (p.Val48=) rs367745211
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.4(DLAT):c.46G>A (p.Ala16Thr) rs150145390
NM_001931.4(DLAT):c.570A>G (p.Gln190=) rs143107853
NM_001931.4(DLAT):c.626A>G (p.Gln209Arg) rs11553595
NM_001931.4(DLAT):c.693C>T (p.Thr231=) rs34680691
NM_001931.4(DLAT):c.946C>T (p.Pro316Ser) rs149088081
NM_002294.2(LAMP2):c.*1071G>T rs2285548
NM_002294.2(LAMP2):c.*1096T>C rs5957382
NM_002294.2(LAMP2):c.*1314T>C rs5957381
NM_002294.2(LAMP2):c.*1589A>G rs73612906
NM_002294.2(LAMP2):c.*1617C>T rs141881232
NM_002294.2(LAMP2):c.*1701dupT rs373005118
NM_002294.2(LAMP2):c.*205C>T rs41300191
NM_002294.2(LAMP2):c.*2158_*2161dupATAT rs753399289
NM_002294.2(LAMP2):c.*2162G>A rs767123866
NM_002294.2(LAMP2):c.*2195T>C rs13441024
NM_002294.2(LAMP2):c.*2261A>G rs12395643
NM_002294.2(LAMP2):c.*2395A>G rs10127185
NM_002294.2(LAMP2):c.*2460A>G rs10127182
NM_002294.2(LAMP2):c.*2746A>G rs3827478
NM_002294.2(LAMP2):c.*297A>C rs8160
NM_002294.2(LAMP2):c.*3031dupT rs113549733
NM_002294.2(LAMP2):c.*3248G>A rs5957380
NM_002294.2(LAMP2):c.*3468_*3470delGTT rs199705754
NM_002294.2(LAMP2):c.*4562A>G rs142200759
NM_002294.2(LAMP2):c.*4579A>G rs42885
NM_002294.2(LAMP2):c.*4671C>T rs1045953
NM_002294.2(LAMP2):c.*486A>G rs5957383
NM_002294.2(LAMP2):c.*5038A>G rs2748
NM_002294.2(LAMP2):c.*5048A>T rs113285013
NM_002294.2(LAMP2):c.1093+2478A>G rs140936359
NM_002294.2(LAMP2):c.1093+2485T>C rs1301008847
NM_002294.2(LAMP2):c.156A>T (p.Val52=) rs12097
NM_002294.2(LAMP2):c.156_157delACinsTT (p.Arg53Cys) rs1556114013
NM_002294.2(LAMP2):c.264A>T (p.Ile88=) rs779524035
NM_002294.2(LAMP2):c.276C>T (p.Phe92=) rs754577706
NM_002294.2(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.42C>T (p.Leu14=) rs727503122
NM_002294.2(LAMP2):c.517G>A (p.Val173Ile) rs141574558
NM_002294.2(LAMP2):c.519A>G (p.Val173=) rs1060504543
NM_002294.2(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_002294.2(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.2(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.2(LAMP2):c.865-8delT rs746330494
NM_002294.2(LAMP2):c.865-8dupT rs746330494
NM_002294.2(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002488.4(NDUFA2):c.-136A>G rs778594
NM_002488.4(NDUFA2):c.-48A>G rs778593
NM_002495.3(NDUFS4):c.*46G>A rs567
NM_002495.3(NDUFS4):c.424+19dupT rs140172554
NM_002496.3(NDUFS8):c.*14C>T rs1051806
NM_002547.2(OPHN1):c.902C>T (p.Thr301Met) rs138108344
NM_002764.3(PRPS1):c.*178G>A rs576933222
NM_002764.3(PRPS1):c.*725T>C rs183744100
NM_002764.3(PRPS1):c.-153delG rs768856537
NM_002764.3(PRPS1):c.444G>A (p.Glu148=) rs201285459
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002764.3(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002764.3(PRPS1):c.477C>T (p.Ile159=) rs61752962
NM_003159.2(CDKL5):c.100-7C>T rs752279222
NM_003159.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076
NM_003159.2(CDKL5):c.145+17A>G rs199814742
NM_003159.2(CDKL5):c.1455_1460delGGCCAA (p.Ala486_Lys487del) rs587783114
NM_003159.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_003159.2(CDKL5):c.1692T>C (p.His564=) rs765011302
NM_003159.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769
NM_003159.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758
NM_003159.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_003159.2(CDKL5):c.2797+8_2797+9delCT rs1555957573
NM_003159.2(CDKL5):c.2841G>A (p.Pro947=) rs368344738
NM_003159.2(CDKL5):c.2933T>G (p.Leu978Arg) rs143243059
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_003159.2(CDKL5):c.987C>T (p.Ala329=) rs142665931
NM_003413.3(ZIC3):c.*1189A>G rs41300285
NM_003413.3(ZIC3):c.*1540G>A rs184855783
NM_003413.3(ZIC3):c.*2024G>C rs113057036
NM_003413.3(ZIC3):c.*41A>G rs12387258
NM_003413.3(ZIC3):c.*489A>G rs183286584
NM_003413.3(ZIC3):c.131C>G (p.Thr44Ser) rs78870836
NM_003413.3(ZIC3):c.49G>T (p.Gly17Cys) rs147232392
NM_003413.3(ZIC3):c.649C>G (p.Pro217Ala) rs104894963
NM_003413.3(ZIC3):c.906C>T (p.Cys302=) rs779221820
NM_003477.2(PDHX):c.*123A>G rs59918794
NM_003477.2(PDHX):c.*173G>A rs75863418
NM_003477.2(PDHX):c.*200T>C rs16926653
NM_003477.2(PDHX):c.*890T>C rs1049333
NM_003477.2(PDHX):c.-23C>A rs201033364
NM_003477.2(PDHX):c.241+3G>A rs78878052
NM_003477.2(PDHX):c.339C>T (p.Ile113=) rs34582941
NM_003477.2(PDHX):c.438C>T (p.Asp146=) rs75182779
NM_003477.2(PDHX):c.507C>T (p.Ile169=) rs79170416
NM_003477.2(PDHX):c.531C>T (p.Pro177=) rs76486106
NM_003477.2(PDHX):c.70C>G (p.Arg24Gly) rs11539201
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) rs148700620
NM_003588.3(CUL4B):c.429_431delCTC (p.Ser146del) rs754330779
NM_003611.2(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.2(OFD1):c.2319A>G (p.Pro773=) rs752137789
NM_003611.2(OFD1):c.282C>T (p.Phe94=) rs762169661
NM_003611.2(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.2(OFD1):c.355C>A (p.Pro119Thr) rs202103941
NM_003611.2(OFD1):c.69A>G (p.Leu23=) rs1060503868
NM_003611.2(OFD1):c.705A>G (p.Lys235=) rs773888732
NM_004544.3(NDUFA10):c.*1189C>T rs66534347
NM_004544.3(NDUFA10):c.*1229C>G rs55998047
NM_004544.3(NDUFA10):c.*1923_*1924insA rs138899326
NM_004544.3(NDUFA10):c.*1957G>A rs4854069
NM_004544.3(NDUFA10):c.*2309G>A rs1132778
NM_004544.3(NDUFA10):c.*2602C>T rs58261980
NM_004544.3(NDUFA10):c.*308C>T rs8369
NM_004544.3(NDUFA10):c.*3204C>T rs34277046
NM_004544.3(NDUFA10):c.*3450G>A rs7573892
NM_004544.3(NDUFA10):c.*407C>T rs74614612
NM_004544.3(NDUFA10):c.*414G>A rs13424612
NM_004544.3(NDUFA10):c.*438C>T rs13396556
NM_004544.3(NDUFA10):c.*631C>T rs10933622
NM_004544.3(NDUFA10):c.1000-5delC rs138479490
NM_004544.3(NDUFA10):c.105A>G (p.Lys35=) rs2083411
NM_004544.3(NDUFA10):c.24G>A (p.Leu8=) rs113012830
NM_004544.3(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494
NM_004544.3(NDUFA10):c.771A>G (p.Gln257=) rs13848
NM_004550.4(NDUFS2):c.*114A>G rs1136224
NM_004550.4(NDUFS2):c.-388G>T rs3813623
NM_004550.4(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415
NM_004550.4(NDUFS2):c.1290C>T (p.Ala430=) rs1136207
NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_004553.4(NDUFS6):c.310-15T>C rs10058270
NM_004586.2(RPS6KA3):c.1000-7C>T rs1555933444
NM_004595.4(SMS):c.1026A>C (p.Ser342=) rs61732077
NM_004992.3(MECP2):c.1098C>T (p.His366=) rs1557135898
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1154C>A (p.Pro385His) rs111302745
NM_004992.3(MECP2):c.1168_1173delCCACCT (p.Pro390_Pro391del) rs61753008
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr) rs61753973
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.378-42A>G rs786205893
NM_004992.3(MECP2):c.378-6C>G rs782482746
NM_004992.3(MECP2):c.420G>A (p.Ala140=) rs782082759
NM_004992.3(MECP2):c.450G>C (p.Leu150=) rs1060504124
NM_004992.3(MECP2):c.561C>A (p.Gly187=) rs200074866
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.832G>A (p.Ala278Thr) rs782086416
NM_004992.3(MECP2):c.862G>A (p.Val288Met) rs782455664
NM_005006.6(NDUFS1):c.*256C>T rs10198830
NM_005006.6(NDUFS1):c.*336G>T rs1044120
NM_005006.6(NDUFS1):c.*457T>A rs4147728
NM_005006.6(NDUFS1):c.*733A>G rs6707707
NM_005006.6(NDUFS1):c.*846delT rs58253838
NM_005006.6(NDUFS1):c.-47C>G rs4147707
NM_005006.6(NDUFS1):c.123C>T (p.Val41=) rs2230888
NM_005006.6(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005006.6(NDUFS1):c.414T>C (p.Asp138=) rs11548670
NM_005006.6(NDUFS1):c.551+14C>A rs10206644
NM_005006.6(NDUFS1):c.975C>T (p.Arg325=) rs2230890
NM_005120.2(MED12):c.1269G>A (p.Glu423=) rs758467351
NM_005120.2(MED12):c.1671C>T (p.Ser557=) rs1556335123
NM_005120.2(MED12):c.1956C>T (p.Ser652=) rs199873151
NM_005120.2(MED12):c.2136C>T (p.Pro712=) rs377207665
NM_005120.2(MED12):c.2169G>A (p.Gly723=) rs1060504497
NM_005120.2(MED12):c.2220C>T (p.Ile740=) rs370195616
NM_005120.2(MED12):c.2571G>C (p.Thr857=) rs368090262
NM_005120.2(MED12):c.2895C>T (p.Ser965=) rs1060504496
NM_005120.2(MED12):c.3063C>T (p.Phe1021=) rs797045698
NM_005120.2(MED12):c.3498G>A (p.Glu1166=) rs1556336751
NM_005120.2(MED12):c.3582G>A (p.Lys1194=) rs1060504499
NM_005120.2(MED12):c.3849G>T (p.Leu1283=) rs377409217
NM_005120.2(MED12):c.4111C>T (p.Pro1371Ser) rs587778437
NM_005120.2(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.2(MED12):c.4665G>A (p.Thr1555=) rs375001801
NM_005120.2(MED12):c.4806G>T (p.Ser1602=) rs755218771
NM_005120.2(MED12):c.492T>C (p.Cys164=) rs886039163
NM_005120.2(MED12):c.5253G>A (p.Pro1751=) rs770067057
NM_005120.2(MED12):c.5427C>T (p.Ser1809=) rs772462354
NM_005120.2(MED12):c.5616A>G (p.Pro1872=) rs750250372
NM_005120.2(MED12):c.5655C>T (p.Val1885=) rs1556339100
NM_005120.2(MED12):c.5711C>T (p.Ala1904Val) rs200663107
NM_005120.2(MED12):c.6226_6228delCAG (p.Gln2076del) rs757160341
NM_005120.2(MED12):c.6273G>A (p.Gln2091=) rs1556340048
NM_005120.2(MED12):c.6291G>A (p.Gln2097=) rs756285149
NM_005120.2(MED12):c.6294G>A (p.Gln2098=) rs1408739478
NM_005120.2(MED12):c.6297G>A (p.Gln2099=) rs1480313864
NM_005120.2(MED12):c.6300G>A (p.Gln2100=) rs1556340080
NM_005120.2(MED12):c.6303G>A (p.Gln2101=) rs1490399010
NM_005120.2(MED12):c.6321G>A (p.Gln2107=) rs778103349
NM_005120.2(MED12):c.6324G>A (p.Gln2108=) rs749807888
NM_005120.2(MED12):c.6327G>A (p.Gln2109=) rs1333460909
NM_005120.2(MED12):c.6333G>A (p.Gln2111=) rs1556340108
NM_005120.2(MED12):c.6351G>A (p.Gln2117=) rs1175039083
NM_005120.2(MED12):c.653C>T (p.Thr218Met) rs369083173
NM_005120.2(MED12):c.708C>T (p.Thr236=) rs34668206
NM_005249.4(FOXG1):c.1122C>T (p.Tyr374=) rs777855975
NM_005249.4(FOXG1):c.1161G>A (p.Ser387=) rs147154860
NM_005249.4(FOXG1):c.1320C>G (p.Ser440=) rs1057524328
NM_005249.4(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005249.4(FOXG1):c.1399C>T (p.Leu467=) rs371279404
NM_005249.4(FOXG1):c.159C>T (p.His53=) rs769410384
NM_005249.4(FOXG1):c.170_172dup (p.His57_Pro58insHis) rs772407998
NM_005249.4(FOXG1):c.180G>C (p.Pro60=) rs1555321214
NM_005249.4(FOXG1):c.201G>T (p.Pro67=) rs587780944
NM_005249.4(FOXG1):c.218_220dupAGC (p.Gln73_Pro74insGln) rs398124201
NM_005249.4(FOXG1):c.234_236dupGCC (p.Pro80_Ala81insPro) rs786200975
NM_005249.4(FOXG1):c.245C>A (p.Pro82Gln) rs796052453
NM_005249.4(FOXG1):c.246G>C (p.Pro82=) rs1555321242
NM_005249.4(FOXG1):c.324A>G (p.Pro108=) rs750512461
NM_005249.4(FOXG1):c.417C>T (p.Pro139=) rs1018810212
NM_005249.4(FOXG1):c.447C>T (p.Ala149=) rs112803404
NM_005249.4(FOXG1):c.503G>C (p.Gly168Ala) rs148157138
NM_005249.4(FOXG1):c.594C>G (p.Pro198=) rs141088742
NM_005629.3(SLC6A8):c.1146G>A (p.Pro382=) rs782627741
NM_005629.3(SLC6A8):c.1218C>T (p.Phe406=) rs1557045310
NM_005629.3(SLC6A8):c.1284C>T (p.Gly428=) rs781788160
NM_005629.3(SLC6A8):c.1290C>T (p.Leu430=) rs782667574
NM_005629.3(SLC6A8):c.1414C>T (p.Leu472=) rs781974297
NM_005629.3(SLC6A8):c.1452C>G (p.Leu484=) rs376421364
NM_005629.3(SLC6A8):c.1515C>T (p.Asp505=) rs151335200
NM_005629.3(SLC6A8):c.1570T>A (p.Ser524Thr) rs782703394
NM_005629.3(SLC6A8):c.1597-4G>A rs1312663828
NM_005629.3(SLC6A8):c.1614C>T (p.Asn538=) rs369726574
NM_005629.3(SLC6A8):c.1653C>T (p.Tyr551=) rs369715906
NM_005629.3(SLC6A8):c.1714G>A (p.Val572Met) rs2872524
NM_005629.3(SLC6A8):c.1719G>A (p.Pro573=) rs2314070
NM_005629.3(SLC6A8):c.1767+15C>T rs370331295
NM_005629.3(SLC6A8):c.1768-9C>G rs782234529
NM_005629.3(SLC6A8):c.42C>T (p.Ser14=) rs1060504719
NM_005629.3(SLC6A8):c.644+8C>T rs782433720
NM_005629.3(SLC6A8):c.644+9G>A rs200353790
NM_005629.3(SLC6A8):c.87G>C (p.Gly29=) rs782373793
NM_005629.3(SLC6A8):c.93G>A (p.Pro31=) rs782197450
NM_005710.2(PQBP1):c.-87C>T rs150603792
NM_005710.2(PQBP1):c.264G>A (p.Ser88=) rs398124212
NM_005710.2(PQBP1):c.585C>T (p.Ser195=) rs149688357
NM_005765.2(ATP6AP2):c.423C>T (p.Asn141=) rs1555977800
NM_006359.2(SLC9A6):c.1020C>G (p.Thr340=) rs1060504686
NM_006359.2(SLC9A6):c.1141-8C>T rs1060504684
NM_006359.2(SLC9A6):c.1224C>T (p.Val408=) rs1556619315
NM_006359.2(SLC9A6):c.1668G>A (p.Pro556=) rs1060504687
NM_006359.2(SLC9A6):c.171C>G (p.Ile57Met) rs782296172
NM_006359.2(SLC9A6):c.384T>C (p.Asn128=) rs782529317
NM_006359.2(SLC9A6):c.576C>T (p.Phe192=) rs1423014570
NM_006359.2(SLC9A6):c.663A>G (p.Leu221=) rs1060504685
NM_006859.3(LIAS):c.114C>A (p.Leu38=) rs750439302
NM_006859.3(LIAS):c.129A>G (p.Pro43=) rs377315137
NM_006859.3(LIAS):c.31A>T (p.Thr11Ser) rs147516123
NM_006859.3(LIAS):c.529C>T (p.Leu177=) rs750168413
NM_006859.3(LIAS):c.60T>C (p.Tyr20=) rs201996792
NM_006859.3(LIAS):c.737+9G>A rs750744754
NM_006859.3(LIAS):c.7C>T (p.Leu3=) rs1553933562
NM_007103.3(NDUFV1):c.-66G>A rs73490568
NM_007103.3(NDUFV1):c.1056T>C (p.Ala352=) rs11227859
NM_007103.3(NDUFV1):c.549C>G (p.Gly183=) rs10896187
NM_007325.4(GRIA3):c.466T>C (p.Tyr156His) rs144902457
NM_007325.4(GRIA3):c.580G>A (p.Gly194Arg) rs189437004
NM_014165.3(NDUFAF4):c.*1443G>A rs7758762
NM_014165.3(NDUFAF4):c.*301T>A rs1854268
NM_014165.3(NDUFAF4):c.*323A>T rs9487453
NM_014165.3(NDUFAF4):c.*332A>T rs10499008
NM_014165.3(NDUFAF4):c.241-9dupT rs34213186
NM_014165.3(NDUFAF4):c.430T>C (p.Leu144=) rs6684
NM_014467.2(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014467.2(SRPX2):c.1373G>A (p.Arg458Gln) rs146051561
NM_014467.2(SRPX2):c.449C>T (p.Ser150Phe) rs373847965
NM_014467.2(SRPX2):c.693C>A (p.His231Gln) rs142719253
NM_014467.2(SRPX2):c.732T>C (p.Tyr244=) rs1556013511
NM_014467.2(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_014467.2(SRPX2):c.982G>A (p.Val328Ile) rs753573260
NM_014467.2(SRPX2):c.99G>T (p.Pro33=) rs766670891
NM_015185.2(ARHGEF9):c.1204A>G (p.Ile402Val) rs56110425
NM_015185.2(ARHGEF9):c.1272G>A (p.Arg424=) rs782387990
NM_015185.2(ARHGEF9):c.1467G>A (p.Ser489=) rs782580975
NM_015185.2(ARHGEF9):c.243C>T (p.Asn81=) rs782671712
NM_015185.2(ARHGEF9):c.28A>G (p.Ile10Val) rs55868891
NM_015185.2(ARHGEF9):c.330G>A (p.Glu110=) rs373866956
NM_015185.2(ARHGEF9):c.351C>T (p.His117=) rs138198839
NM_015185.2(ARHGEF9):c.543A>G (p.Gly181=) rs782187939
NM_015185.2(ARHGEF9):c.562-8dup rs782366734
NM_015185.2(ARHGEF9):c.794+8A>G rs1464003224
NM_015185.2(ARHGEF9):c.794+8A>T rs1464003224
NM_016013.3(NDUFAF1):c.-386A>T rs111326645
NM_016013.3(NDUFAF1):c.26G>A (p.Arg9His) rs1899
NM_016013.3(NDUFAF1):c.909G>A (p.Val303=) rs73407109
NM_016013.3(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016013.3(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702
NM_016032.3(ZDHHC9):c.1056C>T (p.Pro352=) rs1381138968
NM_016032.3(ZDHHC9):c.489G>A (p.Glu163=) rs1339214564
NM_016032.3(ZDHHC9):c.519G>A (p.Gly173=) rs766780497
NM_016032.3(ZDHHC9):c.858G>T (p.Val286=) rs1556004572
NM_016032.3(ZDHHC9):c.873G>A (p.Leu291=) rs1556004565
NM_016032.3(ZDHHC9):c.876C>T (p.Pro292=) rs1556004557
NM_016032.3(ZDHHC9):c.900T>C (p.Gly300=) rs1556004503
NM_017547.3(FOXRED1):c.*113G>A rs667627
NM_017547.3(FOXRED1):c.*129C>G rs594318
NM_017745.5(BCOR):c.2647G>A (p.Val883Ile) rs909942650
NM_017745.5(BCOR):c.453A>G (p.Thr151=) rs1450768568
NM_018444.3(PDP1):c.*1736G>C rs116788695
NM_018444.3(PDP1):c.*51G>T rs149521176
NM_020717.3(SHROOM4):c.2165G>A (p.Arg722His) rs3761506
NM_020717.3(SHROOM4):c.2192A>G (p.Glu731Gly) rs144727288
NM_021074.4(NDUFV2):c.*77C>G rs12454908
NM_021074.4(NDUFV2):c.201A>T (p.Val67=) rs41274300
NM_024407.4(NDUFS7):c.*13C>A rs11551663
NM_024407.4(NDUFS7):c.408+10G>T rs2074896
NM_024407.4(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530
NM_025152.2(NUBPL):c.*122G>C rs4981131
NM_025152.2(NUBPL):c.*1451C>T rs28533800
NM_025152.2(NUBPL):c.*1888G>A rs7148746
NM_025152.2(NUBPL):c.*273C>T rs76188062
NM_025152.2(NUBPL):c.*312G>A rs10162516
NM_025152.2(NUBPL):c.*444C>T rs10162515
NM_025152.2(NUBPL):c.*537dupA rs200626091
NM_025152.2(NUBPL):c.*836C>G rs10147479
NM_025152.2(NUBPL):c.593A>C (p.Asn198Thr) rs11558436
NM_031206.4(LAS1L):c.1371C>T (p.Ser457=) rs761061736
NM_031206.4(LAS1L):c.159G>A (p.Gln53=) rs144560954
NM_031206.4(LAS1L):c.1691T>C (p.Val564Ala) rs148989578
NM_031206.4(LAS1L):c.381A>G (p.Ser127=) rs992864125
NM_031206.4(LAS1L):c.747C>T (p.Ser249=) rs745356580
NM_031206.4(LAS1L):c.99G>C (p.Ser33=) rs779407196
NM_133499.2(SYN1):c.1063C>T (p.Leu355=) rs191822319
NM_133499.2(SYN1):c.1137C>T (p.Asp379=) rs762471804
NM_133499.2(SYN1):c.1159-7C>T rs767722750
NM_133499.2(SYN1):c.1389A>C (p.Pro463=) rs1435656023
NM_133499.2(SYN1):c.150T>G (p.Thr50=) rs1556861816
NM_133499.2(SYN1):c.1629T>C (p.Pro543=) rs1027134708
NM_133499.2(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_133499.2(SYN1):c.1701A>T (p.Thr567=) rs770195822
NM_133499.2(SYN1):c.1815C>T (p.Ser605=) rs1452773137
NM_133499.2(SYN1):c.1818G>A (p.Gln606=) rs967215240
NM_133499.2(SYN1):c.189G>T (p.Pro63=) rs371739376
NM_133499.2(SYN1):c.1944C>T (p.Ala648=) rs1556857414
NM_133499.2(SYN1):c.1968G>A (p.Pro656=) rs199844514
NM_133499.2(SYN1):c.579A>G (p.Ala193=) rs1556860653
NM_133499.2(SYN1):c.756C>T (p.Tyr252=) rs1556860614
NM_133499.2(SYN1):c.939C>T (p.Asp313=) rs373928763
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_175614.4(NDUFA11):c.-217A>G rs1056987
NM_175614.4(NDUFA11):c.-88C>A rs8108064
NM_198270.3(NHS):c.2214T>C (p.Tyr738=) rs1323986389
NM_198270.3(NHS):c.2846C>T (p.Thr949Met) rs373464879
NM_198270.3(NHS):c.408C>T (p.Leu136=) rs1555981412

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