ClinVar Miner

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

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 356
Download table as spreadsheet
HGVS dbSNP
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) rs782072629
NM_000033.4(ABCD1):c.1467G>A (p.Val489=) rs782516659
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=) rs139000596
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.2172+7G>T rs782433802
NM_000052.7(ATP7A):c.219T>C (p.Ala73=) rs1557231581
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=) rs368261204
NM_000052.7(ATP7A):c.2499-9T>C rs1557235070
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=) rs782315761
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=) rs781950120
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=) rs371089220
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser) rs782764064
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.7(ATP7A):c.4226+9G>A rs1557239012
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138
NM_000052.7(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352
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_000276.4(OCRL):c.2427G>A (p.Gln809=) rs145277867
NM_000489.5(ATRX):c.1077G>T (p.Leu359=) rs782504858
NM_000489.5(ATRX):c.1256C>T (p.Ala419Val) rs374958282
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.2064A>G (p.Lys688=) rs781991929
NM_000489.5(ATRX):c.222A>G (p.Ser74=) rs782427200
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.2859A>G (p.Thr953=) rs782180867
NM_000489.5(ATRX):c.2901A>G (p.Lys967=) rs782680197
NM_000489.5(ATRX):c.2968G>A (p.Glu990Lys) rs376883807
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.3559A>G (p.Asn1187Asp) rs782146598
NM_000489.5(ATRX):c.3801T>C (p.Pro1267=) rs149717199
NM_000489.5(ATRX):c.3987A>G (p.Glu1329=) rs147160114
NM_000489.5(ATRX):c.4347_4349AGA[1] (p.Glu1464del) rs587780288
NM_000489.5(ATRX):c.4365_4367GGA[4] (p.Glu1464del) rs398123423
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.546A>G (p.Gln182=) rs375794120
NM_000489.5(ATRX):c.5799A>G (p.Lys1933=) rs1557085918
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.5(ATRX):c.6240C>T (p.Asn2080=) rs1557069232
NM_000489.5(ATRX):c.6927T>A (p.Ile2309=) rs1557041797
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.5(ATRX):c.913A>G (p.Ser305Gly) rs782778928
NM_000531.6(OTC):c.216+9C>T rs774764719
NM_000531.6(OTC):c.360G>A (p.Val120=) rs768780957
NM_001008537.3(NEXMIF):c.1983C>T (p.His661=) rs138583612
NM_001008537.3(NEXMIF):c.206C>T (p.Ser69Phe) rs201351157
NM_001008537.3(NEXMIF):c.2130G>A (p.Lys710=) rs749479992
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser) rs375623451
NM_001008537.3(NEXMIF):c.3378G>A (p.Glu1126=) rs770681599
NM_001008537.3(NEXMIF):c.3812T>C (p.Met1271Thr) rs138236888
NM_001008537.3(NEXMIF):c.4205A>G (p.Asn1402Ser) rs140532942
NM_001008537.3(NEXMIF):c.4338G>A (p.Lys1446=) rs200805356
NM_001008537.3(NEXMIF):c.4368C>A (p.Ala1456=) rs781623230
NM_001042537.1(SLC9A6):c.1116C>G (p.Thr372=) rs1060504686
NM_001042537.1(SLC9A6):c.1237-8C>T rs1060504684
NM_001042537.1(SLC9A6):c.1320C>T (p.Val440=) rs1556619315
NM_001042537.1(SLC9A6):c.171C>G (p.Ile57Met) rs782296172
NM_001042537.1(SLC9A6):c.1764G>A (p.Pro588=) rs1060504687
NM_001042537.1(SLC9A6):c.384T>C (p.Asn128=) rs782529317
NM_001042537.1(SLC9A6):c.672C>T (p.Phe224=) rs1423014570
NM_001042537.1(SLC9A6):c.759A>G (p.Leu253=) rs1060504685
NM_001079872.1(CUL4B):c.360_362CTC[5] (p.Ser128del) rs754330779
NM_001110556.2(FLNA):c.1120G>A (p.Val374Met) rs201681328
NM_001110556.2(FLNA):c.1356C>T (p.Gly452=) rs782437864
NM_001110556.2(FLNA):c.1761G>A (p.Glu587=) rs377261686
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.1815C>T (p.Asp605=) rs781821848
NM_001110556.2(FLNA):c.1902C>T (p.Arg634=) rs782136908
NM_001110556.2(FLNA):c.2019C>T (p.Asp673=) rs1557178734
NM_001110556.2(FLNA):c.2027A>G (p.Lys676Arg) rs781798819
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=) rs371501734
NM_001110556.2(FLNA):c.2205C>T (p.Tyr735=) rs782551055
NM_001110556.2(FLNA):c.2310C>T (p.Asn770=) rs202109957
NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr) rs201073998
NM_001110556.2(FLNA):c.2405-4G>A rs368187218
NM_001110556.2(FLNA):c.2466C>T (p.Ile822=) rs878854461
NM_001110556.2(FLNA):c.2505G>A (p.Thr835=) rs782013801
NM_001110556.2(FLNA):c.2706T>C (p.Ala902=) rs781842762
NM_001110556.2(FLNA):c.2982A>G (p.Lys994=) rs782056982
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=) rs398123615
NM_001110556.2(FLNA):c.3225G>A (p.Pro1075=) rs782292169
NM_001110556.2(FLNA):c.3246G>A (p.Ala1082=) rs373036085
NM_001110556.2(FLNA):c.3255C>T (p.Pro1085=) rs782231907
NM_001110556.2(FLNA):c.333C>T (p.Leu111=) rs782684723
NM_001110556.2(FLNA):c.3612G>A (p.Pro1204=) rs782273962
NM_001110556.2(FLNA):c.373+10G>A rs368292402
NM_001110556.2(FLNA):c.3768C>T (p.Ser1256=) rs782528841
NM_001110556.2(FLNA):c.3864C>T (p.Thr1288=) rs374068639
NM_001110556.2(FLNA):c.3909C>T (p.Asn1303=) rs1060504018
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001110556.2(FLNA):c.3939C>T (p.Gly1313=) rs374178910
NM_001110556.2(FLNA):c.4017C>T (p.Pro1339=) rs781934382
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) rs377390031
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130
NM_001110556.2(FLNA):c.4155G>T (p.Thr1385=) rs782110572
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) rs182074603
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=) rs398123618
NM_001110556.2(FLNA):c.4344G>A (p.Ala1448=) rs782529594
NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=) rs782080545
NM_001110556.2(FLNA):c.444C>T (p.Tyr148=) rs935727195
NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp) rs782563345
NM_001110556.2(FLNA):c.4659C>T (p.Pro1553=) rs375163471
NM_001110556.2(FLNA):c.4917C>T (p.Thr1639=) rs370608721
NM_001110556.2(FLNA):c.4945+3G>A rs372673802
NM_001110556.2(FLNA):c.5124C>T (p.Phe1708=) rs368399445
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110556.2(FLNA):c.5313+4C>T rs377330443
NM_001110556.2(FLNA):c.543G>C (p.Pro181=) rs201486643
NM_001110556.2(FLNA):c.5475C>T (p.Asp1825=) rs1057521451
NM_001110556.2(FLNA):c.5610C>T (p.Ala1870=) rs782040591
NM_001110556.2(FLNA):c.5787G>A (p.Pro1929=) rs376974488
NM_001110556.2(FLNA):c.5861-9C>T rs782153045
NM_001110556.2(FLNA):c.5952G>A (p.Thr1984=) rs782618234
NM_001110556.2(FLNA):c.5967G>A (p.Pro1989=) rs372351673
NM_001110556.2(FLNA):c.6219C>T (p.Arg2073=) rs782365685
NM_001110556.2(FLNA):c.622+10C>T rs781889769
NM_001110556.2(FLNA):c.6321C>T (p.Cys2107=) rs1060504017
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247
NM_001110556.2(FLNA):c.6408C>A (p.Gly2136=) rs1004981975
NM_001110556.2(FLNA):c.6503-8C>T rs1288120261
NM_001110556.2(FLNA):c.6540C>T (p.Ser2180=) rs781992483
NM_001110556.2(FLNA):c.6564C>G (p.Ala2188=) rs782053327
NM_001110556.2(FLNA):c.6612C>T (p.Pro2204=) rs375499070
NM_001110556.2(FLNA):c.6891T>C (p.Tyr2297=) rs1557175875
NM_001110556.2(FLNA):c.6894G>C (p.Val2298=) rs878854462
NM_001110556.2(FLNA):c.6951C>T (p.Pro2317=) rs782356784
NM_001110556.2(FLNA):c.6984G>A (p.Pro2328=) rs374786760
NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=) rs201153928
NM_001110556.2(FLNA):c.7164T>C (p.Tyr2388=) rs1557175472
NM_001110556.2(FLNA):c.7275T>C (p.His2425=) rs781857682
NM_001110556.2(FLNA):c.7305C>T (p.Tyr2435=) rs782750091
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) rs1026564714
NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=) rs369179210
NM_001110556.2(FLNA):c.7365C>G (p.Ser2455Arg) rs199677057
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu) rs371724771
NM_001110556.2(FLNA):c.897G>A (p.Lys299=) rs782195984
NM_001110556.2(FLNA):c.933T>G (p.Ala311=) rs782592312
NM_001110556.2(FLNA):c.93C>T (p.Thr31=) rs1436289913
NM_001123383.1(BCOR):c.2647G>A (p.Val883Ile) rs909942650
NM_001123383.1(BCOR):c.453A>G (p.Thr151=) rs1450768568
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782
NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=) rs761099954
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=) rs1060504502
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=) rs137962077
NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=) rs184770215
NM_001184880.2(PCDH19):c.165C>G (p.Pro55=) rs1002430549
NM_001184880.2(PCDH19):c.1815C>T (p.Tyr605=) rs1057521256
NM_001184880.2(PCDH19):c.1968T>A (p.Ala656=) rs776150934
NM_001184880.2(PCDH19):c.1971C>G (p.Leu657=) rs770353924
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly) rs780704524
NM_001184880.2(PCDH19):c.2037G>A (p.Leu679=) rs1060504503
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=) rs1555984966
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=) rs1555984464
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=) rs375759744
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653
NM_001184880.2(PCDH19):c.2994T>C (p.Thr998=) rs745398684
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=) rs1358480010
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=) rs199702403
NM_001184880.2(PCDH19):c.315C>T (p.Val105=) rs1555985739
NM_001184880.2(PCDH19):c.3204C>T (p.Pro1068=) rs377415279
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala) rs200854927
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=) rs780266148
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=) rs377627937
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=) rs1338518342
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=) rs750813033
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=) rs773740606
NM_001323289.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_001323289.2(CDKL5):c.1692T>C (p.His564=) rs765011302
NM_001323289.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769
NM_001323289.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_001323289.2(CDKL5):c.987C>T (p.Ala329=) rs142665931
NM_001931.4(DLAT):c.144G>A (p.Val48=) rs367745211
NM_003159.2(CDKL5):c.2797+8_2797+9del rs1555957573
NM_003159.2(CDKL5):c.2841G>A (p.Pro947=) rs368344738
NM_003159.2(CDKL5):c.2933T>G (p.Leu978Arg) rs143243059
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) rs752137789
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661
NM_003611.3(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr) rs202103941
NM_003611.3(OFD1):c.69A>G (p.Leu23=) rs1060503868
NM_003611.3(OFD1):c.705A>G (p.Lys235=) rs773888732
NM_004586.3(RPS6KA3):c.1000-7C>T rs1555933444
NM_004992.3(MECP2):c.1154C>A (p.Pro385His) rs111302745
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_005120.3(MED12):c.1269G>A (p.Glu423=) rs758467351
NM_005120.3(MED12):c.1671C>T (p.Ser557=) rs1556335123
NM_005120.3(MED12):c.1956C>T (p.Ser652=) rs199873151
NM_005120.3(MED12):c.2136C>T (p.Pro712=) rs377207665
NM_005120.3(MED12):c.2169G>A (p.Gly723=) rs1060504497
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616
NM_005120.3(MED12):c.2571G>C (p.Thr857=) rs368090262
NM_005120.3(MED12):c.2895C>T (p.Ser965=) rs1060504496
NM_005120.3(MED12):c.3063C>T (p.Phe1021=) rs797045698
NM_005120.3(MED12):c.3498G>A (p.Glu1166=) rs1556336751
NM_005120.3(MED12):c.3582G>A (p.Lys1194=) rs1060504499
NM_005120.3(MED12):c.3849G>T (p.Leu1283=) rs377409217
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.3(MED12):c.4665G>A (p.Thr1555=) rs375001801
NM_005120.3(MED12):c.4806G>T (p.Ser1602=) rs755218771
NM_005120.3(MED12):c.492T>C (p.Cys164=) rs886039163
NM_005120.3(MED12):c.5253G>A (p.Pro1751=) rs770067057
NM_005120.3(MED12):c.5427C>T (p.Ser1809=) rs772462354
NM_005120.3(MED12):c.5616A>G (p.Pro1872=) rs750250372
NM_005120.3(MED12):c.5655C>T (p.Val1885=) rs1556339100
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107
NM_005120.3(MED12):c.6208_6210CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6273G>A (p.Gln2091=) rs1556340048
NM_005120.3(MED12):c.6291G>A (p.Gln2097=) rs756285149
NM_005120.3(MED12):c.6294G>A (p.Gln2098=) rs1408739478
NM_005120.3(MED12):c.6297G>A (p.Gln2099=) rs1480313864
NM_005120.3(MED12):c.6300G>A (p.Gln2100=) rs1556340080
NM_005120.3(MED12):c.6303G>A (p.Gln2101=) rs1490399010
NM_005120.3(MED12):c.6321G>A (p.Gln2107=) rs778103349
NM_005120.3(MED12):c.6324G>A (p.Gln2108=) rs749807888
NM_005120.3(MED12):c.6327G>A (p.Gln2109=) rs1333460909
NM_005120.3(MED12):c.6333G>A (p.Gln2111=) rs1556340108
NM_005120.3(MED12):c.6351G>A (p.Gln2117=) rs1175039083
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173
NM_005120.3(MED12):c.708C>T (p.Thr236=) rs34668206
NM_005249.5(FOXG1):c.1122C>T (p.Tyr374=) rs777855975
NM_005249.5(FOXG1):c.1161G>A (p.Ser387=) rs147154860
NM_005249.5(FOXG1):c.1320C>G (p.Ser440=) rs1057524328
NM_005249.5(FOXG1):c.1399C>T (p.Leu467=) rs371279404
NM_005249.5(FOXG1):c.159C>T (p.His53=) rs769410384
NM_005249.5(FOXG1):c.164_166ACC[4] (p.His57dup) rs772407998
NM_005249.5(FOXG1):c.180G>C (p.Pro60=) rs1555321214
NM_005249.5(FOXG1):c.201G>T (p.Pro67=) rs587780944
NM_005249.5(FOXG1):c.209_211AGC[5] (p.Gln73dup) rs398124201
NM_005249.5(FOXG1):c.245C>A (p.Pro82Gln) rs796052453
NM_005249.5(FOXG1):c.246G>C (p.Pro82=) rs1555321242
NM_005249.5(FOXG1):c.324A>G (p.Pro108=) rs750512461
NM_005249.5(FOXG1):c.417C>T (p.Pro139=) rs1018810212
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) rs148157138
NM_005249.5(FOXG1):c.594C>G (p.Pro198=) rs141088742
NM_005391.4(PDK3):c.1083T>C (p.Leu361=) rs746261967
NM_005391.4(PDK3):c.249-8C>T rs1231289510
NM_005391.4(PDK3):c.336G>C (p.Leu112=) rs372442017
NM_005391.4(PDK3):c.751-10A>G rs372774822
NM_005391.4(PDK3):c.798C>A (p.Gly266=) rs1250656724
NM_005629.4(SLC6A8):c.1146G>A (p.Pro382=) rs782627741
NM_005629.4(SLC6A8):c.1218C>T (p.Phe406=) rs1557045310
NM_005629.4(SLC6A8):c.1284C>T (p.Gly428=) rs781788160
NM_005629.4(SLC6A8):c.1290C>T (p.Leu430=) rs782667574
NM_005629.4(SLC6A8):c.1414C>T (p.Leu472=) rs781974297
NM_005629.4(SLC6A8):c.1452C>G (p.Leu484=) rs376421364
NM_005629.4(SLC6A8):c.1515C>T (p.Asp505=) rs151335200
NM_005629.4(SLC6A8):c.1570T>A (p.Ser524Thr) rs782703394
NM_005629.4(SLC6A8):c.1597-4G>A rs1312663828
NM_005629.4(SLC6A8):c.1614C>T (p.Asn538=) rs369726574
NM_005629.4(SLC6A8):c.1653C>T (p.Tyr551=) rs369715906
NM_005629.4(SLC6A8):c.1714G>A (p.Val572Met) rs2872524
NM_005629.4(SLC6A8):c.1719G>A (p.Pro573=) rs2314070
NM_005629.4(SLC6A8):c.1768-9C>G rs782234529
NM_005629.4(SLC6A8):c.42C>T (p.Ser14=) rs1060504719
NM_005629.4(SLC6A8):c.644+8C>T rs782433720
NM_005629.4(SLC6A8):c.644+9G>A rs200353790
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) rs782373793
NM_005629.4(SLC6A8):c.93G>A (p.Pro31=) rs782197450
NM_005765.3(ATP6AP2):c.423C>T (p.Asn141=) rs1555977800
NM_006859.4(LIAS):c.114C>A (p.Leu38=) rs750439302
NM_006859.4(LIAS):c.129A>G (p.Pro43=) rs377315137
NM_006859.4(LIAS):c.31A>T (p.Thr11Ser) rs147516123
NM_006859.4(LIAS):c.529C>T (p.Leu177=) rs750168413
NM_006859.4(LIAS):c.60T>C (p.Tyr20=) rs201996792
NM_006859.4(LIAS):c.737+9G>A rs750744754
NM_006859.4(LIAS):c.7C>T (p.Leu3=) rs1553933562
NM_006950.3(SYN1):c.1063C>T (p.Leu355=) rs191822319
NM_006950.3(SYN1):c.1137C>T (p.Asp379=) rs762471804
NM_006950.3(SYN1):c.1159-7C>T rs767722750
NM_006950.3(SYN1):c.1389A>C (p.Pro463=) rs1435656023
NM_006950.3(SYN1):c.150T>G (p.Thr50=) rs1556861816
NM_006950.3(SYN1):c.1629T>C (p.Pro543=) rs1027134708
NM_006950.3(SYN1):c.1701A>T (p.Thr567=) rs770195822
NM_006950.3(SYN1):c.1815C>T (p.Ser605=) rs1452773137
NM_006950.3(SYN1):c.1818G>A (p.Gln606=) rs967215240
NM_006950.3(SYN1):c.189G>T (p.Pro63=) rs371739376
NM_006950.3(SYN1):c.1944C>T (p.Ala648=) rs1556857414
NM_006950.3(SYN1):c.1968G>A (p.Pro656=) rs199844514
NM_006950.3(SYN1):c.579A>G (p.Ala193=) rs1556860653
NM_006950.3(SYN1):c.756C>T (p.Tyr252=) rs1556860614
NM_006950.3(SYN1):c.939C>T (p.Asp313=) rs373928763
NM_013995.2(LAMP2):c.1135A>G (p.Ile379Val) rs140936359
NM_013995.2(LAMP2):c.1142T>C (p.Val381Ala) rs1301008847
NM_013995.2(LAMP2):c.156_157delinsTT (p.Arg53Cys) rs1556114013
NM_013995.2(LAMP2):c.264A>T (p.Ile88=) rs779524035
NM_013995.2(LAMP2):c.276C>T (p.Phe92=) rs754577706
NM_013995.2(LAMP2):c.42C>T (p.Leu14=) rs727503122
NM_013995.2(LAMP2):c.517G>A (p.Val173Ile) rs141574558
NM_013995.2(LAMP2):c.519A>G (p.Val173=) rs1060504543
NM_013995.2(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_013995.2(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_013995.2(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_013995.2(LAMP2):c.865-12dup rs746330494
NM_013995.2(LAMP2):c.865-8del rs746330494
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln) rs146051561
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe) rs373847965
NM_014467.3(SRPX2):c.693C>A (p.His231Gln) rs142719253
NM_014467.3(SRPX2):c.732T>C (p.Tyr244=) rs1556013511
NM_014467.3(SRPX2):c.982G>A (p.Val328Ile) rs753573260
NM_014467.3(SRPX2):c.99G>T (p.Pro33=) rs766670891
NM_015185.3(ARHGEF9):c.1204A>G (p.Ile402Val) rs56110425
NM_015185.3(ARHGEF9):c.1272G>A (p.Arg424=) rs782387990
NM_015185.3(ARHGEF9):c.1467G>A (p.Ser489=) rs782580975
NM_015185.3(ARHGEF9):c.243C>T (p.Asn81=) rs782671712
NM_015185.3(ARHGEF9):c.28A>G (p.Ile10Val) rs55868891
NM_015185.3(ARHGEF9):c.330G>A (p.Glu110=) rs373866956
NM_015185.3(ARHGEF9):c.351C>T (p.His117=) rs138198839
NM_015185.3(ARHGEF9):c.543A>G (p.Gly181=) rs782187939
NM_015185.3(ARHGEF9):c.562-11dup rs782366734
NM_015185.3(ARHGEF9):c.794+8A>G rs1464003224
NM_015185.3(ARHGEF9):c.794+8A>T rs1464003224
NM_016032.4(ZDHHC9):c.1056C>T (p.Pro352=) rs1381138968
NM_016032.4(ZDHHC9):c.489G>A (p.Glu163=) rs1339214564
NM_016032.4(ZDHHC9):c.519G>A (p.Gly173=) rs766780497
NM_016032.4(ZDHHC9):c.858G>T (p.Val286=) rs1556004572
NM_016032.4(ZDHHC9):c.873G>A (p.Leu291=) rs1556004565
NM_016032.4(ZDHHC9):c.876C>T (p.Pro292=) rs1556004557
NM_016032.4(ZDHHC9):c.900T>C (p.Gly300=) rs1556004503
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_198270.4(NHS):c.2214T>C (p.Tyr738=) rs1323986389
NM_198270.4(NHS):c.2846C>T (p.Thr949Met) rs373464879
NM_198270.4(NHS):c.408C>T (p.Leu136=) rs1555981412

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