ClinVar Miner

List of variants studied for History of neurodevelopmental disorder by Ambry Genetics

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ClinVar version:
Total variants: 274
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HGVS dbSNP gnomAD frequency
NM_006593.4(TBR1):c.*10G>A rs890076 0.75488
NM_000033.4(ABCD1):c.*8G>C rs2229539 0.70012
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) rs1051375 0.57002
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=) rs216008 0.20673
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=) rs1544514 0.16949
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=) rs215976 0.08744
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_000719.7(CACNA1C):c.4038C>T (p.Ile1346=) rs56180838 0.04572
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065 0.04512
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=) rs41276710 0.04216
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150 0.03249
NM_001123385.2(BCOR):c.1791C>T (p.His597=) rs144606152 0.03194
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274 0.02319
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751 0.02044
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446 0.01916
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928 0.01726
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509 0.01614
NM_001324144.2(ZNF41):c.387A>G (p.Ser129=) rs60022654 0.01604
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) rs34419050 0.01584
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) rs34217273 0.01468
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=) rs74714098 0.01437
NM_006950.3(SYN1):c.912C>T (p.Ala304=) rs62636605 0.01433
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=) rs113869350 0.01399
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) rs74667788 0.01349
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574 0.01317
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_007137.5(ZNF81):c.8C>T (p.Ala3Val) rs183846665 0.01206
NM_020717.5(SHROOM4):c.3147G>A (p.Met1049Ile) rs61753876 0.01148
NM_001205019.2(GK):c.501C>T (p.Ala167=) rs17854202 0.01121
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316 0.00963
NM_000719.7(CACNA1C):c.771C>T (p.Val257=) rs112315742 0.00908
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872 0.00737
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214 0.00709
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_007137.5(ZNF81):c.129A>G (p.Arg43=) rs148626389 0.00663
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) rs140084263 0.00624
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462 0.00604
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824 0.00585
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114 0.00525
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957 0.00451
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789 0.00449
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=) rs139619000 0.00414
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg) rs201621696 0.00400
NM_001372044.2:c.1116C>T (p.Ser372=) rs201282170 0.00386
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_000266.4(NDP):c.*14G>A rs73475744 0.00365
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597 0.00353
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365 0.00316
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001324144.2(ZNF41):c.590A>G (p.Lys197Arg) rs148585367 0.00296
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) rs61749738 0.00291
NM_001205019.2(GK):c.748-5A>T rs186543786 0.00284
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_001123385.2(BCOR):c.408C>T (p.Ala136=) rs139802143 0.00258
NM_020717.5(SHROOM4):c.509A>G (p.Tyr170Cys) rs142052951 0.00258
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00253
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341 0.00239
NM_000330.4(RS1):c.184+3208G>A rs150900695 0.00231
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976 0.00216
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041 0.00200
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg) rs147131853 0.00200
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg) rs150319104 0.00192
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_001324144.2(ZNF41):c.2215A>T (p.Ile739Leu) rs145129774 0.00174
NM_001324144.2(ZNF41):c.1997C>T (p.Ala666Val) rs144970008 0.00173
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met) rs183359489 0.00160
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) rs61752362 0.00157
NM_001379110.1(SLC9A6):c.*8A>T rs200171451 0.00157
NM_020717.5(SHROOM4):c.1879C>T (p.Pro627Ser) rs150861758 0.00151
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 0.00141
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980 0.00138
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_007137.5(ZNF81):c.550C>G (p.Leu184Val) rs113131552 0.00135
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=) rs143600441 0.00127
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00126
NM_003179.3(SYP):c.877G>A (p.Gly293Ser) rs139475570 0.00122
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848 0.00109
NM_005333.5(HCCS):c.216G>C (p.Ala72=) rs144152239 0.00106
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 0.00102
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349 0.00096
NM_001330574.2(ZNF711):c.453A>C (p.Gly151=) rs139906124 0.00096
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) rs151086692 0.00081
NM_001110792.2(MECP2):c.*9G>A rs144008995 0.00080
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469 0.00063
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186 0.00063
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545 0.00056
NM_020717.5(SHROOM4):c.3504C>T (p.Thr1168=) rs141453548 0.00056
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_006950.3(SYN1):c.426A>G (p.Lys142=) rs145911562 0.00054
NM_001324144.2(ZNF41):c.2114G>A (p.Arg705His) rs144904486 0.00050
NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu) rs201825284 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785 0.00047
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058 0.00045
NM_000719.7(CACNA1C):c.966C>T (p.His322=) rs112539787 0.00042
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00041
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) rs112536447 0.00035
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_000719.7(CACNA1C):c.984C>T (p.Asn328=) rs374050127 0.00029
NM_001110556.2(FLNA):c.5313+4C>T rs377330443 0.00028
NM_014467.3(SRPX2):c.737G>A (p.Arg246Gln) rs146063801 0.00026
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001134407.3(GRIN2A):c.2202C>G (p.Val734=) rs367543138 0.00023
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=) rs151178361 0.00022
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met) rs200511467 0.00021
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_006950.3(SYN1):c.939C>T (p.Asp313=) rs373928763 0.00020
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) rs201656372 0.00018
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys) rs149032771 0.00017
NM_014467.3(SRPX2):c.1221A>G (p.Gln407=) rs375935170 0.00017
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_004595.5(SMS):c.505+3A>G rs751807035 0.00015
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser) rs375623451 0.00013
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951 0.00013
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) rs373625856 0.00013
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247 0.00013
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00013
NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn) rs375972461 0.00013
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034 0.00013
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_001110556.2(FLNA):c.1356C>T (p.Gly452=) rs782437864 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_203475.3(PORCN):c.453G>A (p.Ser151=) rs375894841 0.00008
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=) rs782615607 0.00007
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys) rs781844419 0.00007
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_000194.3(HPRT1):c.325C>A (p.Gln109Lys) rs137852489 0.00006
NM_000719.7(CACNA1C):c.1524G>A (p.Arg508=) rs377431864 0.00006
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=) rs183948518 0.00006
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln) rs376658420 0.00006
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=) rs151195816 0.00006
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg) rs186867242 0.00005
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586 0.00005
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser) rs763745318 0.00005
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn) rs199574770 0.00005
NM_181332.3(NLGN4X):c.1360G>A (p.Val454Met) rs199525017 0.00005
NM_001244008.2(KIF1A):c.3487T>A (p.Ser1163Thr) rs527346259 0.00004
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) rs781908326 0.00004
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_006517.5(SLC16A2):c.1117G>A (p.Val373Met) rs201039304 0.00004
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser) rs772106134 0.00004
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser) rs886049209 0.00003
NM_001244008.2(KIF1A):c.3617G>A (p.Arg1206Gln) rs369849214 0.00003
NM_000381.4(MID1):c.250G>A (p.Asp84Asn) rs374851071 0.00002
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=) rs372113435 0.00002
NM_001110556.2(FLNA):c.5275C>G (p.Pro1759Ala) rs1382076574 0.00002
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001244008.2(KIF1A):c.363+4C>T rs770137926 0.00002
NM_001282531.3(ADNP):c.344A>G (p.Asn115Ser) rs140023121 0.00002
NM_001291867.2(NHS):c.1174C>T (p.Arg392Trp) rs746433521 0.00002
NM_003179.3(SYP):c.398G>A (p.Arg133Gln) rs782047632 0.00002
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp) rs776834508 0.00002
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr) rs749588699 0.00001
NM_001110556.2(FLNA):c.5292C>T (p.Ala1764=) rs1027131950 0.00001
NM_001110792.2(MECP2):c.898G>A (p.Val300Met) rs782455664 0.00001
NM_001123385.2(BCOR):c.780C>T (p.Ser260=) rs1430817668 0.00001
NM_001184880.2(PCDH19):c.2558T>C (p.Phe853Ser) rs894617575 0.00001
NM_001323289.2(CDKL5):c.939A>G (p.Arg313=) rs370986597 0.00001
NM_001330078.2(NRXN1):c.3919G>A (p.Val1307Ile) rs200044811 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg) rs749874149 0.00001
NM_005634.3(SOX3):c.753G>C (p.Pro251=) rs557384424 0.00001
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000202.8(IDS):c.542A>G (p.Asn181Ser) rs1569560492
NM_000489.6(ATRX):c.5311G>C (p.Gly1771Arg) rs1569531574
NM_000489.6(ATRX):c.5686A>G (p.Lys1896Glu) rs1569528925
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu) rs1569510706
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001110792.2(MECP2):c.1193_1198del (p.Leu398_Pro399del) rs1569548334
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_001123385.2(BCOR):c.3305T>G (p.Val1102Gly) rs111622737
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642
NM_001330078.2(NRXN1):c.4405C>A (p.Arg1469=) rs1331703447
NM_002294.3(LAMP2):c.576C>T (p.Asp192=) rs1569369724
NM_002578.5(PAK3):c.276+5G>A rs1569398792
NM_004463.3(FGD1):c.1556G>A (p.Arg519His) rs398124157
NM_004463.3(FGD1):c.415C>T (p.Pro139Ser) rs1569541278
NM_005120.3(MED12):c.3979C>A (p.Pro1327Thr) rs1569481764
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del) rs766775649
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_006306.4(SMC1A):c.413G>A (p.Gly138Asp) rs1569359134
NM_006766.5(KAT6A):c.3353-4A>G rs762302738
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup) rs750049486
NM_012280.4(FTSJ1):c.205G>T (p.Gly69Cys) rs782012239
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_031466.8(TRAPPC9):c.-129_-109dup rs367682297
NM_139058.3(ARX):c.1261C>A (p.Pro421Thr) rs1417254985
NM_139058.3(ARX):c.441A>G (p.Ala147=) rs797045301
NM_153252.5(BRWD3):c.1505G>A (p.Arg502Gln) rs1569261916
NM_176787.5(PIGN):c.1117-1= rs9959632

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