ClinVar Miner

List of variants reported as benign for infancy electroclinical syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 597
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.3188+8C>T rs2327089 0.89617
NM_152309.3(PIK3AP1):c.1576C>T (p.Leu526=) rs4344416 0.87861
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) rs430554 0.85362
NM_001040142.2(SCN2A):c.1035-3T>C rs2121371 0.82016
NM_016373.4(WWOX):c.516+6T>C rs2303191 0.75307
NM_173354.5(SIK1):c.1848C>T (p.Pro616=) rs430552 0.73160
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=) rs2235613 0.62539
NM_015192.4(PLCB1):c.1167+16G>A rs2295179 0.57134
NM_001040142.2(SCN2A):c.1672-16C>T rs1867864 0.56164
NM_152309.3(PIK3AP1):c.1773G>A (p.Ser591=) rs3748234 0.54017
NM_016373.4(WWOX):c.1056+191744T>G rs2548861 0.51877
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_152309.3(PIK3AP1):c.247G>T (p.Ala83Ser) rs3748229 0.37094
NM_016373.4(WWOX):c.108-12G>T rs67493355 0.34450
NM_016373.4(WWOX):c.-5C>T rs11545028 0.27934
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_152309.3(PIK3AP1):c.2103T>C (p.Ser701=) rs3748236 0.25229
NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=) rs2060198 0.25169
NM_015192.4(PLCB1):c.3337C>T (p.Leu1113=) rs2294597 0.24864
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_016373.4(WWOX):c.606-17G>A rs4130513 0.24208
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.23527
NM_173354.5(SIK1):c.43G>A (p.Gly15Ser) rs3746951 0.18525
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_152309.3(PIK3AP1):c.1913A>G (p.Lys638Arg) rs12784975 0.17461
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_000834.5(GRIN2B):c.1125+20A>G rs11055581 0.14832
NM_152309.3(PIK3AP1):c.61G>A (p.Glu21Lys) rs17112076 0.13165
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_173354.5(SIK1):c.156+15T>C rs56796001 0.09264
NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=) rs3026160 0.08178
NM_016373.4(WWOX):c.844C>G (p.Pro282Ala) rs3764340 0.07330
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.06245
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814 0.06063
NM_016373.4(WWOX):c.517-108230A>G rs77067228 0.05744
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_173354.5(SIK1):c.1455C>T (p.Thr485=) rs28510483 0.05232
NM_173354.5(SIK1):c.2174C>T (p.Ala725Val) rs35596465 0.05170
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_173354.5(SIK1):c.948C>T (p.Gly316=) rs17004546 0.03875
NM_000834.5(GRIN2B):c.1126-12A>G rs76777620 0.03782
NM_016373.4(WWOX):c.646C>G (p.Leu216Val) rs7201683 0.03724
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=) rs41275588 0.03299
NM_016373.4(WWOX):c.941G>A (p.Arg314His) rs73572838 0.03269
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150 0.03249
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=) rs34315573 0.03193
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_000834.5(GRIN2B):c.870C>T (p.Pro290=) rs1124894 0.02647
NM_000834.5(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246 0.02603
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_016373.4(WWOX):c.547G>A (p.Asp183Asn) rs74944733 0.02435
NM_152309.3(PIK3AP1):c.828C>T (p.Ala276=) rs35668691 0.02430
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_015192.4(PLCB1):c.1581+15C>T rs79284104 0.02283
NM_152309.3(PIK3AP1):c.2171-7C>T rs111902593 0.02273
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697 0.01993
NM_001199107.2(TBC1D24):c.1526-20C>T rs114367256 0.01755
NM_000834.5(GRIN2B):c.504C>A (p.Ile168=) rs36031537 0.01733
NM_173354.5(SIK1):c.1554G>T (p.Ala518=) rs34487963 0.01593
NM_016373.4(WWOX):c.108-12del rs149533117 0.01497
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_016373.4(WWOX):c.293C>T (p.Pro98Leu) rs144601717 0.01477
NM_015192.4(PLCB1):c.2199G>A (p.Val733=) rs8118206 0.01438
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr) rs117065412 0.01316
NM_016373.4(WWOX):c.351C>G (p.Leu117=) rs34944716 0.01231
NM_015192.4(PLCB1):c.178-15G>A rs6055775 0.01196
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01112
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_152309.3(PIK3AP1):c.20C>T (p.Pro7Leu) rs73334383 0.01102
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_173354.5(SIK1):c.1072C>G (p.Pro358Ala) rs145582574 0.01018
NM_173354.5(SIK1):c.693G>A (p.Thr231=) rs113685366 0.01016
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_016373.4(WWOX):c.885G>A (p.Arg295=) rs79771882 0.00946
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00934
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00908
NM_000834.5(GRIN2B):c.1341C>T (p.Asp447=) rs35025065 0.00902
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=) rs114315466 0.00790
NM_152309.3(PIK3AP1):c.1506T>C (p.Asp502=) rs74496843 0.00731
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570 0.00662
NM_152309.3(PIK3AP1):c.1092G>A (p.Ala364=) rs35035564 0.00647
NM_173354.5(SIK1):c.906C>T (p.Gly302=) rs113379599 0.00615
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_173354.5(SIK1):c.930T>C (p.Gly310=) rs112660017 0.00609
NM_173354.5(SIK1):c.1463-7C>T rs142866662 0.00575
NM_015192.4(PLCB1):c.2309-15A>C rs117816042 0.00563
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931 0.00538
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957 0.00451
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp) rs34164089 0.00424
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_015192.4(PLCB1):c.1679-17G>A rs139542242 0.00372
NM_001040142.2(SCN2A):c.3675+19A>G rs142439830 0.00367
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_015192.4(PLCB1):c.582T>C (p.Leu194=) rs150770296 0.00354
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00337
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) rs114755364 0.00326
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys) rs146478958 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
NM_015192.4(PLCB1):c.1336-18G>A rs140846963 0.00274
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_015192.4(PLCB1):c.2673T>G (p.Pro891=) rs142813933 0.00260
NM_001040142.2(SCN2A):c.2955C>T (p.Ser985=) rs149859004 0.00252
NM_173354.5(SIK1):c.2072G>A (p.Gly691Asp) rs200810453 0.00249
NM_152309.3(PIK3AP1):c.861T>C (p.Phe287=) rs138990701 0.00235
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00232
NM_003159.3(CDKL5):c.2994C>T (p.Phe998=) rs150900695 0.00231
NM_015192.4(PLCB1):c.2930+20T>G rs45533233 0.00214
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903 0.00206
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572 0.00203
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
NM_173354.5(SIK1):c.1470C>T (p.Val490=) rs144693254 0.00188
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206 0.00181
NM_015192.4(PLCB1):c.2711-18C>T rs186797959 0.00181
NM_173354.5(SIK1):c.1463-18G>A rs370691454 0.00179
NM_152309.3(PIK3AP1):c.767G>A (p.Cys256Tyr) rs141221035 0.00177
NM_152309.3(PIK3AP1):c.2076A>G (p.Gly692=) rs141067860 0.00168
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001199107.2(TBC1D24):c.1142+17C>A rs199499346 0.00163
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_152309.3(PIK3AP1):c.2337G>A (p.Val779=) rs145459703 0.00152
NM_152309.3(PIK3AP1):c.975A>G (p.Glu325=) rs34642975 0.00150
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898 0.00144
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_015192.4(PLCB1):c.1678+10C>T rs369652433 0.00131
NM_173354.5(SIK1):c.1119+7G>A rs201075575 0.00128
NM_015192.4(PLCB1):c.1336-13T>C rs185405599 0.00126
NM_173354.5(SIK1):c.2160G>T (p.Pro720=) rs371001336 0.00125
NM_000834.5(GRIN2B):c.3117C>T (p.Tyr1039=) rs147762014 0.00123
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_173354.5(SIK1):c.2227G>A (p.Ala743Thr) rs200534160 0.00121
NM_001323289.2(CDKL5):c.283-12T>C rs188879559 0.00110
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401 0.00110
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=) rs587781187 0.00109
NM_016373.4(WWOX):c.669T>C (p.Asp223=) rs72549408 0.00103
NM_000834.5(GRIN2B):c.1338A>G (p.Thr446=) rs141031272 0.00102
NM_016373.4(WWOX):c.888C>G (p.Ser296=) rs3764341 0.00102
NM_173354.5(SIK1):c.951G>T (p.Val317=) rs113514102 0.00102
NM_015192.4(PLCB1):c.1888+11G>A rs150219357 0.00100
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_001040142.2(SCN2A):c.3594G>A (p.Arg1198=) rs140194137 0.00096
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_173354.5(SIK1):c.939G>T (p.Gln313His) rs200357670 0.00090
NM_152309.3(PIK3AP1):c.549G>A (p.Pro183=) rs139678848 0.00086
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512 0.00085
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_000834.5(GRIN2B):c.1569C>T (p.Val523=) rs148573953 0.00081
NM_016373.4(WWOX):c.107+18G>A rs146301453 0.00078
NM_173354.5(SIK1):c.624+15C>T rs139467241 0.00077
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389 0.00076
NM_001323289.2(CDKL5):c.2046+12del rs766762463 0.00076
NM_016373.4(WWOX):c.410-4A>T rs183410581 0.00076
NM_173354.5(SIK1):c.1077C>T (p.Ala359=) rs149713367 0.00076
NM_152309.3(PIK3AP1):c.387G>A (p.Glu129=) rs149682608 0.00075
NM_015192.4(PLCB1):c.246+12A>G rs200984500 0.00073
NM_152309.3(PIK3AP1):c.1806G>A (p.Thr602=) rs147512410 0.00073
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=) rs370427146 0.00071
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566 0.00071
NM_152309.3(PIK3AP1):c.471C>T (p.Asp157=) rs117500254 0.00071
NM_173354.5(SIK1):c.1744+10G>A rs376512810 0.00071
NM_000834.5(GRIN2B):c.228C>T (p.Thr76=) rs77299791 0.00070
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=) rs140417984 0.00069
NM_000834.5(GRIN2B):c.1780+8C>T rs199986080 0.00068
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924 0.00068
NM_016373.4(WWOX):c.807C>T (p.Asn269=) rs62034095 0.00067
NM_173354.5(SIK1):c.2049G>A (p.Pro683=) rs373872652 0.00067
NM_001040142.2(SCN2A):c.386+17C>T rs201918346 0.00066
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137 0.00063
NM_001040142.2(SCN2A):c.2389-18A>C rs376273827 0.00063
NM_173354.5(SIK1):c.500-21_500-18del rs375258010 0.00060
NM_007254.4(PNKP):c.816+20C>T rs372038893 0.00059
NM_001040142.2(SCN2A):c.2388+9C>A rs191955969 0.00054
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374 0.00051
NM_173354.5(SIK1):c.966G>A (p.Thr322=) rs148266853 0.00051
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=) rs763419895 0.00050
NM_152309.3(PIK3AP1):c.1651G>A (p.Glu551Lys) rs3748233 0.00050
NM_152309.3(PIK3AP1):c.1551T>C (p.Asp517=) rs142087930 0.00048
NM_152309.3(PIK3AP1):c.1735G>A (p.Gly579Arg) rs144966728 0.00048
NM_000834.5(GRIN2B):c.1851C>T (p.Ser617=) rs147373250 0.00045
NM_173354.5(SIK1):c.1560C>T (p.Leu520=) rs146485356 0.00045
NM_000834.5(GRIN2B):c.4101C>T (p.Pro1367=) rs112932810 0.00043
NM_000834.5(GRIN2B):c.4230G>A (p.Thr1410=) rs149655315 0.00041
NM_173354.5(SIK1):c.1462+11C>T rs373251983 0.00041
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120 0.00040
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_173354.5(SIK1):c.453G>A (p.Lys151=) rs138750735 0.00035
NM_001040142.2(SCN2A):c.2149+8A>G rs199897920 0.00033
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419 0.00033
NM_007254.4(PNKP):c.876A>G (p.Gly292=) rs3739199 0.00033
NM_001040142.2(SCN2A):c.4860G>A (p.Val1620=) rs369939991 0.00031
NM_000834.5(GRIN2B):c.45G>A (p.Val15=) rs374735893 0.00030
NM_152309.3(PIK3AP1):c.2379C>T (p.Thr793=) rs201824606 0.00030
NM_000834.5(GRIN2B):c.3799G>T (p.Ala1267Ser) rs141844705 0.00029
NM_000834.5(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012 0.00029
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001323289.2(CDKL5):c.1548C>T (p.Tyr516=) rs751789670 0.00029
NM_000834.5(GRIN2B):c.2703G>A (p.Leu901=) rs145005918 0.00026
NM_173354.5(SIK1):c.1489G>T (p.Ala497Ser) rs35519605 0.00026
NM_173354.5(SIK1):c.546G>T (p.Thr182=) rs146068550 0.00025
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442 0.00024
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly) rs778734352 0.00023
NM_173354.5(SIK1):c.1463-3C>T rs372615326 0.00022
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715 0.00021
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632 0.00021
NM_001323289.2(CDKL5):c.2276+12G>C rs372909446 0.00020
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169 0.00019
NM_173354.5(SIK1):c.4G>A (p.Val2Ile) rs376640139 0.00019
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943 0.00018
NM_000834.5(GRIN2B):c.1780+9G>A rs201461091 0.00017
NM_000834.5(GRIN2B):c.2599-19C>A rs3751258 0.00017
NM_001040142.2(SCN2A):c.1035-7A>C rs558800241 0.00017
NM_139058.3(ARX):c.663C>T (p.Thr221=) rs1006404746 0.00017
NM_001199107.2(TBC1D24):c.1207-16C>G rs201618854 0.00016
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469 0.00016
NM_173354.5(SIK1):c.1278C>T (p.Ser426=) rs539889673 0.00016
NM_001040142.2(SCN2A):c.2149+19G>A rs188453890 0.00015
NM_139058.3(ARX):c.1119+6C>T rs201300786 0.00015
NM_139058.3(ARX):c.148T>C (p.Leu50=) rs370342380 0.00015
NM_152309.3(PIK3AP1):c.360T>C (p.His120=) rs549333065 0.00015
NM_001040142.2(SCN2A):c.960T>C (p.Ile320=) rs185590667 0.00014
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_015192.4(PLCB1):c.639A>C (p.Arg213Ser) rs140899287 0.00014
NM_016373.4(WWOX):c.517-17A>G rs79423401 0.00014
NM_001040142.2(SCN2A):c.3520+11C>T rs187452739 0.00013
NM_001323289.2(CDKL5):c.464-9A>G rs374030184 0.00013
NM_003159.3(CDKL5):c.2797+19A>G rs375809338 0.00013
NM_001040142.2(SCN2A):c.5364G>A (p.Glu1788=) rs199925238 0.00012
NM_152309.3(PIK3AP1):c.1376-8C>T rs754562989 0.00012
NM_173354.5(SIK1):c.243G>C (p.Leu81=) rs549478743 0.00012
NM_000834.5(GRIN2B):c.1328+17A>G rs201560542 0.00011
NM_000834.5(GRIN2B):c.190G>A (p.Val64Met) rs150070901 0.00011
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_001040142.2(SCN2A):c.5931T>C (p.Ser1977=) rs187728892 0.00011
NM_001323289.2(CDKL5):c.283-13A>G rs587783404 0.00011
NM_173354.5(SIK1):c.1488G>A (p.Thr496=) rs753580147 0.00011
NM_173354.5(SIK1):c.30C>T (p.Asp10=) rs751254558 0.00011
NM_000834.5(GRIN2B):c.1781-3C>T rs201520798 0.00010
NM_000834.5(GRIN2B):c.771C>T (p.Ile257=) rs142203984 0.00010
NM_001040142.2(SCN2A):c.3123G>A (p.Pro1041=) rs147576541 0.00010
NM_001040142.2(SCN2A):c.4989C>T (p.Ile1663=) rs373347369 0.00010
NM_001323289.2(CDKL5):c.2157A>T (p.Pro719=) rs200333632 0.00010
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_015192.4(PLCB1):c.3129G>T (p.Thr1043=) rs141102170 0.00010
NM_016373.4(WWOX):c.851A>G (p.Lys284Arg) rs897453553 0.00010
NM_152309.3(PIK3AP1):c.2186G>A (p.Arg729His) rs569632623 0.00010
NM_173354.5(SIK1):c.2059G>A (p.Ala687Thr) rs752544370 0.00010
NM_173354.5(SIK1):c.2142G>A (p.Leu714=) rs759724871 0.00010
NM_001040142.2(SCN2A):c.5208T>G (p.Asp1736Glu) rs200016923 0.00009
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287 0.00009
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys) rs76204496 0.00009
NM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly) rs199526748 0.00008
NM_001040142.2(SCN2A):c.1725G>A (p.Ala575=) rs543538780 0.00008
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286 0.00008
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=) rs3761169 0.00008
NM_000330.4(RS1):c.185-3134G>A rs202153551 0.00007
NM_000834.5(GRIN2B):c.2628G>A (p.Ala876=) rs199710029 0.00007
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849 0.00007
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154 0.00007
NM_001323289.2(CDKL5):c.2256A>G (p.Arg752=) rs770193102 0.00007
NM_003159.3(CDKL5):c.2797+16C>T rs778757202 0.00007
NC_000023.11:g.18646008C>T rs201714912 0.00006
NM_000834.5(GRIN2B):c.1768G>A (p.Ala590Thr) rs145021339 0.00006
NM_000834.5(GRIN2B):c.270T>C (p.Ser90=) rs540429850 0.00006
NM_000834.5(GRIN2B):c.3047G>A (p.Arg1016Lys) rs141109968 0.00006
NM_000834.5(GRIN2B):c.3797C>T (p.Pro1266Leu) rs201947553 0.00006
NM_000834.5(GRIN2B):c.3818C>A (p.Thr1273Lys) rs531747728 0.00006
NM_000834.5(GRIN2B):c.4270C>T (p.Leu1424Phe) rs748128078 0.00006
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804 0.00006
NM_003159.3(CDKL5):c.2909G>A (p.Arg970Gln) rs570887192 0.00006
NM_007254.4(PNKP):c.1387-11G>A rs200785744 0.00006
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr) rs369907002 0.00006
NM_016373.4(WWOX):c.533A>G (p.Glu178Gly) rs764588235 0.00006
NM_173354.5(SIK1):c.2005G>A (p.Ala669Thr) rs753288564 0.00006
NM_173354.5(SIK1):c.854C>T (p.Pro285Leu) rs567695572 0.00006
NM_173354.5(SIK1):c.855G>A (p.Pro285=) rs549052367 0.00006
NM_173354.5(SIK1):c.924G>A (p.Ala308=) rs199738681 0.00006
NM_000834.5(GRIN2B):c.3473G>A (p.Arg1158Gln) rs143955920 0.00005
NM_000834.5(GRIN2B):c.412-20T>C rs779719544 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846 0.00005
NM_001323289.2(CDKL5):c.283-14T>C rs776132140 0.00005
NM_001323289.2(CDKL5):c.64+19G>A rs776988929 0.00005
NM_001323289.2(CDKL5):c.950A>G (p.His317Arg) rs756537286 0.00005
NM_007254.4(PNKP):c.861G>C (p.Val287=) rs75203375 0.00005
NM_139058.3(ARX):c.223T>G (p.Phe75Val) rs999545482 0.00005
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_000834.5(GRIN2B):c.2648T>C (p.Val883Ala) rs770464893 0.00004
NM_000834.5(GRIN2B):c.275G>A (p.Arg92Gln) rs201966022 0.00004
NM_000834.5(GRIN2B):c.3993G>A (p.Met1331Ile) rs200035225 0.00004
NM_000834.5(GRIN2B):c.4041C>A (p.Ser1347Arg) rs769147604 0.00004
NM_001040142.2(SCN2A):c.3213A>C (p.Gly1071=) rs199997352 0.00004
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_007254.4(PNKP):c.1126+9C>T rs3739202 0.00004
NM_016373.4(WWOX):c.542C>T (p.Thr181Ile) rs756339242 0.00004
NM_139058.3(ARX):c.99G>A (p.Leu33=) rs756804509 0.00004
NM_152309.3(PIK3AP1):c.1863C>T (p.Asn621=) rs775513848 0.00004
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His) rs201982602 0.00003
NM_000834.5(GRIN2B):c.2861G>A (p.Cys954Tyr) rs376328340 0.00003
NM_000834.5(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200 0.00003
NM_000834.5(GRIN2B):c.4107C>T (p.Gly1369=) rs201732760 0.00003
NM_000834.5(GRIN2B):c.4321C>T (p.Arg1441Cys) rs773648473 0.00003
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407 0.00003
NM_001040142.2(SCN2A):c.837G>A (p.Leu279=) rs776892826 0.00003
NM_001323289.2(CDKL5):c.1526C>T (p.Ala509Val) rs779325312 0.00003
NM_001323289.2(CDKL5):c.2497-17C>T rs780795025 0.00003
NM_001323289.2(CDKL5):c.249A>G (p.Gly83=) rs764954859 0.00003
NM_001323289.2(CDKL5):c.282+19A>G rs781452978 0.00003
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007 0.00003
NM_173354.5(SIK1):c.1060G>A (p.Ala354Thr) rs753285222 0.00003
NM_173354.5(SIK1):c.1370A>C (p.Glu457Ala) rs377535420 0.00003
NM_173354.5(SIK1):c.1379C>T (p.Thr460Met) rs761262141 0.00003
NM_173354.5(SIK1):c.2014G>A (p.Gly672Ser) rs751934560 0.00003
NM_173354.5(SIK1):c.2112G>A (p.Ser704=) rs773124142 0.00003
NM_173354.5(SIK1):c.2218G>A (p.Ala740Thr) rs760602207 0.00003
NM_173354.5(SIK1):c.2243G>A (p.Arg748His) rs375516507 0.00003
NM_173354.5(SIK1):c.273+8G>T rs370279333 0.00003
NC_000023.11:g.18650483A>G rs765535216 0.00002
NM_000330.4(RS1):c.185-3207G>A rs587783161 0.00002
NM_000834.5(GRIN2B):c.2172-9C>G rs1555103671 0.00002
NM_000834.5(GRIN2B):c.3338C>T (p.Pro1113Leu) rs766946947 0.00002
NM_000834.5(GRIN2B):c.3499G>A (p.Val1167Ile) rs1042339 0.00002
NM_000834.5(GRIN2B):c.3514C>T (p.Pro1172Ser) rs757924519 0.00002
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262 0.00002
NM_000834.5(GRIN2B):c.52G>A (p.Val18Ile) rs201094029 0.00002
NM_000834.5(GRIN2B):c.598G>C (p.Glu200Gln) rs1196117849 0.00002
NM_001040142.2(SCN2A):c.1479G>A (p.Leu493=) rs182457234 0.00002
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574 0.00002
NM_001199107.2(TBC1D24):c.965+11G>A rs568663296 0.00002
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001323289.2(CDKL5):c.1098C>T (p.Phe366=) rs777079786 0.00002
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln) rs267608436 0.00002
NM_001323289.2(CDKL5):c.2581C>T (p.Pro861Ser) rs1430214724 0.00002
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225 0.00002
NM_003159.3(CDKL5):c.2867G>A (p.Arg956His) rs376557374 0.00002
NM_015192.4(PLCB1):c.2308+14G>C rs768572485 0.00002
NM_139058.3(ARX):c.1524G>A (p.Val508=) rs1056460685 0.00002
NM_139058.3(ARX):c.300G>A (p.Ala100=) rs797045294 0.00002
NM_139058.3(ARX):c.361C>A (p.Pro121Thr) rs1308958274 0.00002
NM_152309.3(PIK3AP1):c.2343G>A (p.Pro781=) rs539458415 0.00002
NM_173354.5(SIK1):c.1782G>A (p.Thr594=) rs548640382 0.00002
NM_173354.5(SIK1):c.2045C>T (p.Ala682Val) rs1362078144 0.00002
NM_173354.5(SIK1):c.907G>A (p.Asp303Asn) rs769181075 0.00002
NM_000330.4(RS1):c.185-3137C>A rs767312604 0.00001
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_000834.5(GRIN2B):c.1010+3G>A rs771246986 0.00001
NM_000834.5(GRIN2B):c.1125+9T>C rs764590430 0.00001
NM_000834.5(GRIN2B):c.1318A>G (p.Ile440Val) rs765062440 0.00001
NM_000834.5(GRIN2B):c.2325G>C (p.Gln775His) rs774981179 0.00001
NM_000834.5(GRIN2B):c.2700C>A (p.Arg900=) rs531269037 0.00001
NM_000834.5(GRIN2B):c.2938G>A (p.Val980Met) rs778202551 0.00001
NM_000834.5(GRIN2B):c.3049T>G (p.Ser1017Ala) rs1948601205 0.00001
NM_000834.5(GRIN2B):c.3148A>G (p.Ser1050Gly) rs1157190922 0.00001
NM_000834.5(GRIN2B):c.3402G>A (p.Leu1134=) rs1227988479 0.00001
NM_000834.5(GRIN2B):c.3588T>C (p.Pro1196=) rs200884387 0.00001
NM_000834.5(GRIN2B):c.3660C>G (p.Ser1220=) rs201983807 0.00001
NM_000834.5(GRIN2B):c.3685G>A (p.Val1229Met) rs1948582128 0.00001
NM_000834.5(GRIN2B):c.4035C>T (p.Gly1345=) rs776247380 0.00001
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val) rs763372245 0.00001
NM_000834.5(GRIN2B):c.4093A>C (p.Asn1365His) rs1330186615 0.00001
NM_000834.5(GRIN2B):c.4102G>A (p.Gly1368Ser) rs1043559346 0.00001
NM_000834.5(GRIN2B):c.4148C>T (p.Thr1383Met) rs775838374 0.00001
NM_000834.5(GRIN2B):c.4205A>G (p.Lys1402Arg) rs1349506481 0.00001
NM_000834.5(GRIN2B):c.4229C>T (p.Thr1410Met) rs779830552 0.00001
NM_000834.5(GRIN2B):c.4235C>A (p.Ala1412Glu) rs1314346300 0.00001
NM_000834.5(GRIN2B):c.425T>C (p.Met142Thr) rs1184168879 0.00001
NM_000834.5(GRIN2B):c.4265G>A (p.Arg1422Gln) rs75269586 0.00001
NM_000834.5(GRIN2B):c.4286C>T (p.Pro1429Leu) rs1261054497 0.00001
NM_000834.5(GRIN2B):c.4322G>A (p.Arg1441His) rs200903876 0.00001
NM_000834.5(GRIN2B):c.4355C>T (p.Ser1452Phe) rs756790727 0.00001
NM_000834.5(GRIN2B):c.4375A>G (p.Asn1459Asp) rs1384338205 0.00001
NM_000834.5(GRIN2B):c.619A>G (p.Met207Val) rs747790101 0.00001
NM_000834.5(GRIN2B):c.679A>G (p.Ile227Val) rs201672517 0.00001
NM_000834.5(GRIN2B):c.871G>A (p.Ala291Thr) rs1246772896 0.00001
NM_000834.5(GRIN2B):c.998A>G (p.Asn333Ser) rs748965398 0.00001
NM_001040142.2(SCN2A):c.2388+12T>C rs749226972 0.00001
NM_001323289.2(CDKL5):c.1088A>G (p.Asn363Ser) rs755167459 0.00001
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620 0.00001
NM_001323289.2(CDKL5):c.1422C>T (p.Pro474=) rs773921712 0.00001
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866 0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645 0.00001
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606 0.00001
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964 0.00001
NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr) rs763110247 0.00001
NM_001323289.2(CDKL5):c.463+8A>G rs769244237 0.00001
NM_001323289.2(CDKL5):c.554+11G>A rs267608498 0.00001
NM_001323289.2(CDKL5):c.915T>C (p.Arg305=) rs1170498240 0.00001
NM_003159.3(CDKL5):c.2980+20C>T rs181859624 0.00001
NM_007254.4(PNKP):c.564C>T (p.Gly188=) rs574408360 0.00001
NM_007254.4(PNKP):c.624C>T (p.Ala208=) rs571119317 0.00001
NM_015192.4(PLCB1):c.2414-14T>G rs755970261 0.00001
NM_015192.4(PLCB1):c.288G>T (p.Gly96=) rs200521017 0.00001
NM_016373.4(WWOX):c.538A>G (p.Met180Val) rs569297468 0.00001
NM_139058.3(ARX):c.1521C>A (p.Ala507=) rs777179729 0.00001
NM_139058.3(ARX):c.738C>T (p.Asp246=) rs750465338 0.00001
NM_173354.5(SIK1):c.1129G>A (p.Glu377Lys) rs1374242563 0.00001
NC_000021.8:g.(?_44836602)_(44837674_?)dup
NC_000021.8:g.(?_44836622)_(44837654_?)dup
NC_000021.8:g.(?_44836622)_(44837664_?)dup
NC_000023.11:g.18650479G>T
NC_000023.11:g.18650611C>T
NC_000023.11:g.18650612C>G
NC_000023.11:g.18653413G>A
NM_000330.4(RS1):c.185-3110G>T
NM_000330.4(RS1):c.185-3260C>T rs866859766
NM_000834.5(GRIN2B):c.1103A>C (p.Asn368Thr) rs1314805334
NM_000834.5(GRIN2B):c.1146G>C (p.Lys382Asn)
NM_000834.5(GRIN2B):c.1147T>A (p.Ser383Thr) rs199671864
NM_000834.5(GRIN2B):c.1288A>C (p.Met430Leu)
NM_000834.5(GRIN2B):c.1479C>G (p.Thr493=) rs202139349
NM_000834.5(GRIN2B):c.1655-12dup rs768388356
NM_000834.5(GRIN2B):c.1806C>T (p.Ile602=) rs1805522
NM_000834.5(GRIN2B):c.188C>T (p.Ser63Phe) rs1865821627
NM_000834.5(GRIN2B):c.189C>A (p.Ser63=) rs199707487
NM_000834.5(GRIN2B):c.2172-10del rs761900678
NM_000834.5(GRIN2B):c.2172-15dup rs761900678
NM_000834.5(GRIN2B):c.2202A>G (p.Ala734=) rs148185805
NM_000834.5(GRIN2B):c.2552T>C (p.Met851Thr)
NM_000834.5(GRIN2B):c.2665G>A (p.Ala889Thr) rs756224637
NM_000834.5(GRIN2B):c.2717A>G (p.Lys906Arg)
NM_000834.5(GRIN2B):c.2745T>A (p.Asn915Lys)
NM_000834.5(GRIN2B):c.274C>A (p.Arg92=) rs1436757161
NM_000834.5(GRIN2B):c.278A>G (p.Lys93Arg) rs1865819544
NM_000834.5(GRIN2B):c.2810A>G (p.His937Arg) rs1168893427
NM_000834.5(GRIN2B):c.2960A>G (p.His987Arg) rs765183831
NM_000834.5(GRIN2B):c.2975A>G (p.His992Arg) rs1555102461
NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)
NM_000834.5(GRIN2B):c.3082C>T (p.Pro1028Ser)
NM_000834.5(GRIN2B):c.3127T>G (p.Ser1043Ala) rs1251332746
NM_000834.5(GRIN2B):c.3160G>A (p.Asp1054Asn)
NM_000834.5(GRIN2B):c.3340C>T (p.Pro1114Ser) rs2136404905
NM_000834.5(GRIN2B):c.3344G>A (p.Arg1115His) rs199514711
NM_000834.5(GRIN2B):c.3389G>T (p.Arg1130Leu) rs148625092
NM_000834.5(GRIN2B):c.3413G>T (p.Arg1138Leu) rs187979330
NM_000834.5(GRIN2B):c.3473G>T (p.Arg1158Leu) rs143955920
NM_000834.5(GRIN2B):c.3497C>G (p.Ser1166Cys)
NM_000834.5(GRIN2B):c.3543C>A (p.His1181Gln) rs866476716
NM_000834.5(GRIN2B):c.3550G>A (p.Gly1184Ser)
NM_000834.5(GRIN2B):c.362C>T (p.Thr121Ile)
NM_000834.5(GRIN2B):c.3641T>C (p.Phe1214Ser)
NM_000834.5(GRIN2B):c.3673T>A (p.Tyr1225Asn) rs1591605873
NM_000834.5(GRIN2B):c.3703G>A (p.Gly1235Ser) rs886049099
NM_000834.5(GRIN2B):c.3722G>A (p.Arg1241Gln) rs2136403871
NM_000834.5(GRIN2B):c.3886A>C (p.Asn1296His) rs1555101871
NM_000834.5(GRIN2B):c.38G>T (p.Trp13Leu) rs765133670
NM_000834.5(GRIN2B):c.3943G>A (p.Ala1315Thr)
NM_000834.5(GRIN2B):c.3950T>C (p.Leu1317Pro) rs2136403363
NM_000834.5(GRIN2B):c.3964G>T (p.Val1322Leu)
NM_000834.5(GRIN2B):c.3991A>C (p.Met1331Leu) rs1338505023
NM_000834.5(GRIN2B):c.4021G>C (p.Glu1341Gln)
NM_000834.5(GRIN2B):c.4031C>T (p.Ala1344Val) rs759438353
NM_000834.5(GRIN2B):c.4075G>T (p.Ala1359Ser) rs2136403015
NM_000834.5(GRIN2B):c.4102G>T (p.Gly1368Cys)
NM_000834.5(GRIN2B):c.4114A>G (p.Met1372Val)
NM_000834.5(GRIN2B):c.4162A>G (p.Ile1388Val)
NM_000834.5(GRIN2B):c.4229C>G (p.Thr1410Arg) rs779830552
NM_000834.5(GRIN2B):c.4289T>C (p.Val1430Ala)
NM_000834.5(GRIN2B):c.4300C>T (p.Leu1434Phe) rs1002108827
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_000834.5(GRIN2B):c.4312G>A (p.Val1438Met) rs763699668
NM_000834.5(GRIN2B):c.4337T>A (p.Ile1446Asn)
NM_000834.5(GRIN2B):c.465C>A (p.Ser155=) rs115189840
NM_000834.5(GRIN2B):c.511A>G (p.Ile171Val)
NM_000834.5(GRIN2B):c.627G>A (p.Leu209=)
NM_000834.5(GRIN2B):c.76G>A (p.Ala26Thr) rs79962661
NM_000834.5(GRIN2B):c.80G>T (p.Arg27Leu) rs200727145
NM_000834.5(GRIN2B):c.856G>C (p.Asp286His)
NM_000834.5(GRIN2B):c.868C>T (p.Pro290Ser) rs1863522709
NM_000834.5(GRIN2B):c.92G>C (p.Ser31Thr) rs746004289
NM_000834.5(GRIN2B):c.94C>A (p.Pro32Thr)
NM_000834.5(GRIN2B):c.959G>C (p.Ser320Thr) rs931791422
NM_000834.5(GRIN2B):c.992A>G (p.Gln331Arg) rs1555132930
NM_001040142.2(SCN2A):c.2150-8del rs746100466
NM_001040142.2(SCN2A):c.2385C>T (p.Asn795=)
NM_001040142.2(SCN2A):c.3520+10del rs955426239
NM_001040142.2(SCN2A):c.3840G>C (p.Leu1280=)
NM_001040142.2(SCN2A):c.4539A>T (p.Ile1513=) rs200553623
NM_001040142.2(SCN2A):c.4944G>A (p.Thr1648=) rs565309819
NM_001040142.2(SCN2A):c.519A>G (p.Lys173=) rs200941759
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[2] rs777798547
NM_001323289.2(CDKL5):c.1382A>T (p.Asn461Ile) rs267608629
NM_001323289.2(CDKL5):c.145+4_145+5dup rs776844003
NM_001323289.2(CDKL5):c.145+5AT[10] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[11] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[13] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[14] rs745969938
NM_001323289.2(CDKL5):c.1689A>C (p.Arg563Ser)
NM_001323289.2(CDKL5):c.1700C>T (p.Thr567Met)
NM_001323289.2(CDKL5):c.2103A>G (p.Arg701=)
NM_001323289.2(CDKL5):c.2152+18A>G
NM_001323289.2(CDKL5):c.2153-18T>G
NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=) rs747554139
NM_001323289.2(CDKL5):c.2277-13T>C
NM_001323289.2(CDKL5):c.2355_2357del (p.Lys789del)
NM_001323289.2(CDKL5):c.2666T>G (p.Ile889Ser)
NM_001323289.2(CDKL5):c.2677C>T (p.Pro893Ser)
NM_001323289.2(CDKL5):c.2706G>T (p.Gln902His)
NM_001323289.2(CDKL5):c.573C>G (p.Ser191=) rs786204958
NM_001323289.2(CDKL5):c.573C>T (p.Ser191=)
NM_001323289.2(CDKL5):c.977+7A>G rs770011012
NM_003159.3(CDKL5):c.2714-10del
NM_007254.4(PNKP):c.1029+15C>G
NM_007254.4(PNKP):c.1030-12del rs1398388252
NM_007254.4(PNKP):c.1127-7dup rs757518270
NM_007254.4(PNKP):c.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.1387-48del rs770848795
NM_007254.4(PNKP):c.1387-48dup rs770848795
NM_007254.4(PNKP):c.1387-5del rs1238643725
NM_007254.4(PNKP):c.1387-5dup rs1238643725
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.936+13dup rs3739200
NM_015192.4(PLCB1):c.2043+22del rs761743488
NM_015192.4(PLCB1):c.2710+22del rs747461333
NM_015192.4(PLCB1):c.67A>G (p.Lys23Glu) rs2051304754
NM_016373.4(WWOX):c.1057-14T>C rs66481974
NM_016373.4(WWOX):c.107+9del rs2151651994
NM_016373.4(WWOX):c.108-13dup rs146697931
NM_016373.4(WWOX):c.108-14_108-13dup rs146697931
NM_016373.4(WWOX):c.108-6dup rs754221329
NM_016373.4(WWOX):c.1239C>T (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.409+16A>C rs12934985
NM_016373.4(WWOX):c.525C>G (p.Ala175=)
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.535G>C (p.Ala179Pro) rs11545029
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.544C>G (p.Leu182Val)
NM_016373.4(WWOX):c.618G>A (p.Val206=) rs376279847
NM_016373.4(WWOX):c.747C>G (p.Arg249=) rs375934868
NM_016373.4(WWOX):c.876T>C (p.Ala292=) rs74030232
NM_016373.4(WWOX):c.876T>G (p.Ala292=) rs74030232
NM_139058.3(ARX):c.1073+20G>A
NM_139058.3(ARX):c.1186C>A (p.Pro396Thr) rs776523818
NM_139058.3(ARX):c.1272G>T (p.Pro424=) rs398124507
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.1333C>T (p.Pro445Ser) rs2147320407
NM_139058.3(ARX):c.1345G>A (p.Gly449Ser) rs2147320401
NM_139058.3(ARX):c.215G>C (p.Ser72Thr) rs1556056580
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del) rs387906492
NM_139058.3(ARX):c.421G>A (p.Gly141Ser) rs2048712606
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) rs1438576250
NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del) rs750585274
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_152309.3(PIK3AP1):c.1143A>G (p.Lys381=)
NM_152309.3(PIK3AP1):c.14-17G>A
NM_152309.3(PIK3AP1):c.2242-19C>T
NM_173354.5(SIK1):c.1463-5del rs1252502732
NM_173354.5(SIK1):c.1463-5dup
NM_173354.5(SIK1):c.1553C>T (p.Ala518Val) rs142171557
NM_173354.5(SIK1):c.156+11dup
NM_173354.5(SIK1):c.156+18G>C rs201427751
NM_173354.5(SIK1):c.1594G>T (p.Ala532Ser) rs761551726
NM_173354.5(SIK1):c.1605G>A (p.Pro535=) rs113434279
NM_173354.5(SIK1):c.1832A>G (p.Gln611Arg) rs1243997625
NM_173354.5(SIK1):c.1976+15del rs2146468542
NM_173354.5(SIK1):c.2108C>T (p.Thr703Met) rs1308366748
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
NM_173354.5(SIK1):c.2222T>G (p.Leu741Arg) rs1227514074
NM_173354.5(SIK1):c.274-3del rs550878772
NM_173354.5(SIK1):c.748+17C>T rs75559179

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