ClinVar Miner

List of variants reported as not provided for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 424
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HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161 0.00922
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) rs111768745 0.00103
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg) rs140334007 0.00039
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125 0.00026
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_001008537.3(NEXMIF):c.313A>C (p.Ile105Leu) rs141738108 0.00014
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly) rs752026201 0.00007
NM_001127178.3(PIGG):c.589A>G (p.Arg197Gly) rs151220901 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_017755.6(NSUN2):c.2026G>A (p.Val676Ile) rs773052587 0.00006
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile) rs200519753 0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701 0.00006
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His) rs750153892 0.00004
NM_005862.3(STAG1):c.1189G>C (p.Val397Leu) rs201846240 0.00004
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys) rs750459659 0.00004
NM_000548.5(TSC2):c.454C>G (p.His152Asp) rs397515285 0.00003
NM_001281503.2(SLITRK1):c.*689G>A rs191284403 0.00003
NM_001378120.1(MBD5):c.1304C>T (p.Ser435Phe) rs768225923 0.00003
NM_003805.5(CRADD):c.503G>A (p.Arg168Gln) rs563879626 0.00003
NM_004830.4(MED23):c.2417T>C (p.Ile806Thr) rs1416942996 0.00003
NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val) rs201002323 0.00003
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00002
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met) rs767406620 0.00002
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys) rs1064795656 0.00002
NM_002074.5(GNB1):c.727A>G (p.Thr243Ala) rs1394767075 0.00002
NM_007325.5(GRIA3):c.609G>T (p.Arg203Ser) rs147567539 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp) rs767713084 0.00002
NM_181672.3(OGT):c.1879C>T (p.Arg627Cys) rs766646613 0.00002
NM_000548.5(TSC2):c.2861A>G (p.Lys954Arg) rs397515191 0.00001
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr) rs201206500 0.00001
NM_001039591.3(USP9X):c.5671G>C (p.Asp1891His) rs1203955457 0.00001
NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser) rs782624844 0.00001
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln) rs886041516 0.00001
NM_001244008.2(KIF1A):c.5024C>T (p.Pro1675Leu) rs779705838 0.00001
NM_001303052.2(MYT1L):c.1184T>C (p.Val395Ala) rs1335226719 0.00001
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678 0.00001
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786 0.00001
NM_002139.4(RBMX):c.296C>T (p.Pro99Leu) rs1241455828 0.00001
NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu) rs1556832824 0.00001
NM_004187.5(KDM5C):c.659C>T (p.Pro220Leu) rs2073736194 0.00001
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr) rs778325168 0.00001
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln) rs762905361 0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln) rs2092288110 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051 0.00001
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg) rs1471479119 0.00001
NM_007118.4(TRIO):c.8119C>T (p.Arg2707Ter) rs747166529 0.00001
NM_016032.4(ZDHHC9):c.1013C>T (p.Pro338Leu) rs753807510 0.00001
NM_017721.5(CC2D1A):c.1948C>T (p.Pro650Ser) rs746894472 0.00001
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) rs372375423 0.00001
NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter) rs1239725461 0.00001
NM_020987.5(ANK3):c.8746A>G (p.Ile2916Val) rs375389082 0.00001
NM_030665.4(RAI1):c.3478C>T (p.Arg1160Trp) rs761044841 0.00001
NM_152641.4(ARID2):c.5359C>T (p.Arg1787Cys) rs1457405698 0.00001
GRCh37/hg19 14q12(chr14:28688830-30017377)x1
GRCh37/hg19 16p13.11(chr16:15154115-16276115)
GRCh37/hg19 2q33.1(chr2:200188260-200214121)x1
GRCh37/hg19 3p13(chr3:71021211-71181046)x1
GRCh37/hg19 3q26.32(chr3:176755939-176756243)x1
GRCh37/hg19 7q11.22(chr7:69848194-70190799)x1
GRCh37/hg19 8q22.2(chr8:100133404-100133674)x1
GRCh37/hg19 Xp11.4(chrX:38480090-38634614)x3
GRCh37/hg19 Xp11.4(chrX:38486922-38615759)x2
GRCh37/hg19 Xq28(chrX:153566798-153748208)x4
GRCh37/hg19 Xq28(chrX:154124170-154528181)x3
NCBI36/hg18 2p25.3(chr2:20341-2288046)x1
NM_000314.8(PTEN):c.377C>T (p.Ala126Val) rs1114167656
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys) rs1448764008
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys) rs2148019913
NM_000489.6(ATRX):c.6718C>T (p.Leu2240Phe) rs199474698
NM_000548.5(TSC2):c.1597A>C (p.Lys533Gln) rs397515038
NM_000548.5(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe) rs397514908
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2879C>T (p.Ser960Phe) rs397514898
NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln) rs397515156
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr) rs397515110
NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp) rs1561846159
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.2438T>C (p.Leu813Pro)
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs) rs1556016292
NM_001032382.2(PQBP1):c.376A>T (p.Arg126Trp) rs28372358
NM_001039591.3(USP9X):c.1140G>A (p.Trp380Ter) rs886041595
NM_001039591.3(USP9X):c.1315-4A>G rs1057522024
NM_001039591.3(USP9X):c.2633C>T (p.Ser878Leu)
NM_001040142.2(SCN2A):c.2767T>C (p.Trp923Arg) rs1057524573
NM_001080517.3(SETD5):c.2212_2213del (p.Met738fs) rs2125289335
NM_001100399.2(PDS5A):c.663_666del (p.Lys222fs)
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu) rs80338837
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110792.2(MECP2):c.308G>C (p.Arg103Pro)
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) rs1603310755
NM_001110792.2(MECP2):c.413+5G>A rs2148666320
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001145358.2(SIN3A):c.3025C>T (p.Gln1009Ter)
NM_001145358.2(SIN3A):c.394C>T (p.Gln132Ter)
NM_001160372.4(TRAPPC9):c.2123del (p.His708fs)
NM_001170629.2(CHD8):c.3307+1G>A rs2139474867
NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly) rs1559174854
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter) rs1559174813
NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln) rs1559164403
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.1476A>T (p.Gln492His)
NM_001172509.2(SATB2):c.1945dup (p.Ser649fs) rs1559136052
NM_001172509.2(SATB2):c.2018dup (p.His673fs) rs1559136015
NM_001172509.2(SATB2):c.2074G>T (p.Glu692Ter) rs1559135904
NM_001172509.2(SATB2):c.346+2T>G rs1559052017
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter) rs1558995207
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) rs797044874
NM_001184880.2(PCDH19):c.117_142dup (p.Glu48fs)
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile) rs2147539327
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter) rs587784295
NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs)
NM_001190274.2(FBXO11):c.2084G>A (p.Gly695Asp) rs2104658680
NM_001244008.2(KIF1A):c.1264C>A (p.Arg422Ser)
NM_001244008.2(KIF1A):c.3816+3G>A rs2047809605
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter) rs1555904878
NM_001273.5(CHD4):c.4147+1G>T rs2136203532
NM_001281503.2(SLITRK1):c.1264del (p.Leu422fs) rs193302861
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.3278_3279dup (p.Gly1094fs) rs869320662
NM_001282531.3(ADNP):c.819_820insT (p.Lys274Ter)
NM_001282531.3(ADNP):c.82_85del (p.Leu28fs) rs1982227129
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001303052.2(MYT1L):c.1639del (p.Val547fs)
NM_001303052.2(MYT1L):c.1808G>T (p.Arg603Leu) rs1264319963
NM_001303052.2(MYT1L):c.2030A>G (p.Asp677Gly) rs2148958913
NM_001303052.2(MYT1L):c.2123dup (p.Ser709fs) rs886041944
NM_001303052.2(MYT1L):c.2726del (p.Gly909fs) rs2148530761
NM_001320.7(CSNK2B):c.367+5del rs1583610622
NM_001321075.3(DLG4):c.150+4_150+5del
NM_001321075.3(DLG4):c.1598A>G (p.Tyr533Cys)
NM_001321075.3(DLG4):c.2074_2078delinsT (p.Val692fs) rs2142803273
NM_001321075.3(DLG4):c.910del (p.Glu304fs)
NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs) rs1931281945
NM_001330574.2(ZNF711):c.124GTT[1] (p.Val43del) rs587780527
NM_001330574.2(ZNF711):c.1379A>T (p.Tyr460Phe) rs2147874862
NM_001347721.2(DYRK1A):c.1271dup (p.Pro425fs)
NM_001347721.2(DYRK1A):c.208-28G>A rs552103257
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter) rs1057516030
NM_001348323.3(TRIP12):c.1510C>T (p.Gln504Ter)
NM_001348323.3(TRIP12):c.3088_3089del (p.Gly1030fs)
NM_001349338.3(FOXP1):c.180+200C>A
NM_001353921.2(ARHGEF9):c.1126G>T (p.Asp376Tyr)
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His) rs2063908570
NM_001356.5(DDX3X):c.1168C>T (p.Gln390Ter)
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser) rs1064793796
NM_001356.5(DDX3X):c.1399G>T (p.Ala467Ser) rs2147358490
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1702C>T (p.Pro568Ser) rs2147360044
NM_001356.5(DDX3X):c.443+3A>T rs2147350644
NM_001356.5(DDX3X):c.538G>T (p.Glu180Ter)
NM_001356.5(DDX3X):c.629C>T (p.Ala210Val)
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.5(DDX3X):c.862A>G (p.Lys288Glu) rs1064796820
NM_001356.5(DDX3X):c.898G>T (p.Val300Phe) rs2147353947
NM_001356.5(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001366057.1(OTUD4):c.1361A>G (p.Glu454Gly)
NM_001370100.5(ZMYND11):c.1262G>A (p.Ser421Asn) rs869320713
NM_001371928.1(AHDC1):c.1167del (p.Arg389fs) rs1553159581
NM_001371928.1(AHDC1):c.1169del (p.Pro390fs) rs1553159575
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs) rs587779766
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter) rs777736953
NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter) rs886041781
NM_001374828.1(ARID1B):c.1099C>T (p.Gln367Ter) rs1583025138
NM_001374828.1(ARID1B):c.1227AGGAGGAGCAGGAGC[1] (p.411GAGAG[1]) rs773423003
NM_001374828.1(ARID1B):c.1400del (p.Gly467fs)
NM_001374828.1(ARID1B):c.1508del (p.Asn503fs) rs1583026682
NM_001374828.1(ARID1B):c.2073dup (p.His692fs) rs2128210922
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001374828.1(ARID1B):c.4150C>T (p.Gln1384Ter) rs1182325800
NM_001374828.1(ARID1B):c.5407del (p.Leu1803fs) rs1794427847
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.6218A>G (p.Asn2073Ser)
NM_001376.5(DYNC1H1):c.11989C>T (p.Arg3997Trp) rs1399236395
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile) rs750566844
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser) rs1555408829
NM_001376.5(DYNC1H1):c.5114T>C (p.Val1705Ala) rs2048178354
NM_001378120.1(MBD5):c.1188del (p.Met396fs) rs2105630210
NM_001378120.1(MBD5):c.150del (p.Thr52fs) rs398122412
NM_001378120.1(MBD5):c.340_347del (p.Lys114fs) rs794727928
NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter) rs886041003
NM_001378120.1(MBD5):c.890_891del (p.Ile297fs) rs796052719
NM_001429.4(EP300):c.2225del (p.Pro742fs) rs2059021664
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter) rs1555911313
NM_001429.4(EP300):c.5723dup (p.Thr1909fs) rs1555912182
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) rs869312824
NM_002074.5(GNB1):c.287G>T (p.Arg96Leu) rs1646670990
NM_002074.5(GNB1):c.301A>G (p.Met101Val) rs869312825
NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr) rs1570640673
NM_002074.5(GNB1):c.353A>G (p.Asp118Gly) rs1553194162
NM_002397.5(MEF2C):c.411del (p.Pro138fs) rs1581753788
NM_002397.5(MEF2C):c.413del (p.Pro138fs) rs1581753587
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_002547.3(OPHN1):c.1225C>T (p.Arg409Cys) rs1064795031
NM_002547.3(OPHN1):c.155-2A>C rs1064793755
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg) rs281875202
NM_003070.5(SMARCA2):c.4216G>A (p.Val1406Met)
NM_003072.5(SMARCA4):c.4781A>G (p.Lys1594Arg) rs1555796197
NM_003072.5(SMARCA4):c.489G>T (p.Gly163=) rs1201612670
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003491.4(NAA10):c.471+2T>A rs587776457
NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser) rs761103069
NM_004187.5(KDM5C):c.1565C>T (p.Ser522Phe) rs2146915737
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004187.5(KDM5C):c.269C>T (p.Ala90Val) rs2073805082
NM_004187.5(KDM5C):c.4118-9A>G
NM_004187.5(KDM5C):c.469T>A (p.Tyr157Asn)
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys) rs1556852793
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs) rs2141203402
NM_004380.3(CREBBP):c.3181G>A (p.Glu1061Lys)
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter) rs1603417440
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.5(SMS):c.174T>A (p.Phe58Leu) rs397515549
NM_004595.5(SMS):c.329+5G>A rs397515381
NM_004595.5(SMS):c.388C>T (p.Arg130Cys) rs1602210346
NM_004595.5(SMS):c.443A>G (p.Gln148Arg) rs397515551
NM_004595.5(SMS):c.908_911del (p.Met303fs) rs1602220706
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu) rs1775982467
NM_004830.4(MED23):c.224del (p.Arg75fs) rs2114781844
NM_004830.4(MED23):c.2528T>C (p.Leu843Pro)
NM_004859.4(CLTC):c.681+2dup rs1598214612
NM_005120.3(MED12):c.1249-1G>C rs2147783158
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile) rs2092292878
NM_005120.3(MED12):c.1547G>A (p.Arg516His) rs1556334969
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln) rs1057519381
NM_005120.3(MED12):c.2207_2210del (p.Thr736fs) rs2147791922
NM_005120.3(MED12):c.2663dup (p.Leu889fs) rs2147796613
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn) rs2147796647
NM_005120.3(MED12):c.2692A>G (p.Asn898Asp) rs2147797665
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu) rs2147797835
NM_005120.3(MED12):c.2786T>A (p.Val929Asp) rs2147798220
NM_005120.3(MED12):c.2861T>G (p.Val954Gly) rs2147799283
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu) rs397515554
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.3(MED12):c.322C>T (p.Arg108Ter) rs2147773440
NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys) rs2147802318
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) rs2092311077
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) rs2147805923
NM_005120.3(MED12):c.3653G>A (p.Gly1218Glu) rs2147805960
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.3(MED12):c.3932T>A (p.Val1311Glu) rs2147808490
NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser) rs2147808505
NM_005120.3(MED12):c.4070G>A (p.Arg1357His) rs2147811858
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln) rs1488533087
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg) rs794727576
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs) rs2147823333
NM_005120.3(MED12):c.5111G>A (p.Trp1704Ter) rs2147826070
NM_005120.3(MED12):c.514G>C (p.Glu172Gln) rs2147774632
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter) rs2147829167
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005120.3(MED12):c.5919C>A (p.Tyr1973Ter) rs2147830849
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.6169C>T (p.Gln2057Ter) rs2147839335
NM_005120.3(MED12):c.616C>G (p.Arg206Gly) rs1556334331
NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter) rs2147839986
NM_005120.3(MED12):c.6241CAG[3] (p.Gln2084_Gln2086del) rs786200971
NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter) rs2147841562
NM_005120.3(MED12):c.6280C>T (p.Gln2094Ter) rs2147841653
NM_005120.3(MED12):c.6328C>G (p.Gln2110Glu)
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter) rs2147844887
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005249.5(FOXG1):c.1062del (p.Ser355fs) rs1881817310
NM_005249.5(FOXG1):c.136dup (p.Gln46fs) rs587783629
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005883.3(APC2):c.278C>T (p.Pro93Leu)
NM_006015.6(ARID1A):c.1325T>C (p.Met442Thr) rs2124785718
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys) rs863225080
NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser) rs757369209
NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys) rs863225081
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006245.4(PPP2R5D):c.602C>G (p.Pro201Arg) rs876657383
NM_006245.4(PPP2R5D):c.619T>A (p.Trp207Arg) rs869320691
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro) rs367543059
NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del) rs113994164
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe) rs113994162
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) rs968244943
NM_006565.4(CTCF):c.1673_1675delinsTT (p.Ser558fs) rs2142867004
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.532_538del (p.Leu178fs)
NM_006565.4(CTCF):c.778_781del (p.Lys260fs) rs2052063931
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006618.5(KDM5B):c.2074T>G (p.Cys692Gly)
NM_006618.5(KDM5B):c.4109_4113del (p.Leu1370fs)
NM_006734.4(HIVEP2):c.5150dup (p.Leu1718fs) rs2114642634
NM_006766.5(KAT6A):c.2525del (p.Ser842fs)
NM_006766.5(KAT6A):c.5736T>G (p.Asn1912Lys) rs758279337
NM_006772.3(SYNGAP1):c.1022_1030delinsTA (p.Gly341fs)
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs) rs587780470
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) rs1060503386
NM_006772.3(SYNGAP1):c.190-2A>G rs1776941586
NM_006772.3(SYNGAP1):c.2539C>T (p.Gln847Ter) rs1554122200
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.457del (p.Thr153fs)
NM_006772.3(SYNGAP1):c.654_655del (p.Phe218fs) rs1777299176
NM_006852.6(TLK2):c.367C>T (p.Arg123Ter) rs758726258
NM_006950.3(SYN1):c.635G>T (p.Ser212Ile) rs1556860638
NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile) rs879255628
NM_007118.4(TRIO):c.3752del (p.Asp1251fs) rs879255623
NM_007118.4(TRIO):c.4128G>A (p.Trp1376Ter) rs879255622
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007118.4(TRIO):c.4381C>A (p.Pro1461Thr) rs879255627
NM_007118.4(TRIO):c.4466del (p.Gln1489fs) rs879255625
NM_007118.4(TRIO):c.649A>T (p.Arg217Ter) rs879255624
NM_007118.4(TRIO):c.7049C>G (p.Pro2350Arg) rs754870679
NM_007327.4(GRIN1):c.1334G>A (p.Gly445Asp) rs147435860
NM_012280.4(FTSJ1):c.620del (p.Pro207fs) rs2147096084
NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter) rs2134275196
NM_012309.5(SHANK2):c.4592_4593del (p.Thr1531fs) rs1565526722
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.3701A>G (p.Asn1234Ser) rs2151753726
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs) rs1597451815
NM_013275.6(ANKRD11):c.6581A>G (p.Gln2194Arg) rs1364705691
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln) rs1057519947
NM_014795.4(ZEB2):c.1077_1081del (p.Ser360fs) rs1703290664
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter) rs869312833
NM_015100.4(POGZ):c.3041del (p.Gln1014fs) rs796052217
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015100.4(POGZ):c.3936del (p.Ile1312fs) rs2102141341
NM_015107.3(PHF8):c.-60C>T rs1557116325
NM_015335.5(MED13L):c.5365-1G>A rs1876893450
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter) rs1568235086
NM_015559.3(SETBP1):c.2447C>A (p.Thr816Asn) rs779562371
NM_015570.4(AUTS2):c.1534dup (p.Ala512fs) rs1789927813
NM_015570.4(AUTS2):c.3050G>A (p.Gly1017Glu)
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs) rs121909834
NM_015922.3(NSDHL):c.455G>A (p.Gly152Asp)
NM_015922.3(NSDHL):c.693GAA[1] (p.Lys232del) rs121909833
NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)
NM_018255.4(ELP2):c.454C>A (p.Leu152Ile) rs2144603879
NM_018489.3(ASH1L):c.1559A>G (p.Glu520Gly)
NM_018489.3(ASH1L):c.1603G>T (p.Gly535Ter)
NM_018489.3(ASH1L):c.2268G>C (p.Glu756Asp) rs2148727190
NM_018489.3(ASH1L):c.4593G>C (p.Lys1531Asn)
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs) rs1665684529
NM_018489.3(ASH1L):c.4909C>T (p.Gln1637Ter)
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg) rs1216562585
NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)
NM_018938.4(PCDHB4):c.915del (p.Lys305fs) rs372292910
NM_020066.5(FMN2):c.1591G>T (p.Asp531Tyr)
NM_020843.4(SCAPER):c.2166-3C>G rs1598279469
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn) rs2150668444
NM_030665.4(RAI1):c.3407C>T (p.Thr1136Met)
NM_030966.2(KRTAP1-3):c.121C>G (p.Gln41Glu) rs78298475
NM_031407.7(HUWE1):c.6976G>T (p.Asp2326Tyr) rs1569448303
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His) rs2061745581
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter) rs797044962
NM_032436.4(CHAMP1):c.2094del (p.Ile698fs)
NM_032436.4(CHAMP1):c.542_543del (p.Ser181fs) rs863225077
NM_032531.4(KIRREL3):c.1238C>T (p.Thr413Ile) rs1565456303
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) rs750585274
NM_139058.3(ARX):c.946G>T (p.Gly316Cys) rs2048708756
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser) rs781781537
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_181303.2(NLGN3):c.814A>T (p.Ile272Phe) rs2147900298
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg) rs267606973
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter) rs875989786
NM_205768.3(ZBTB18):c.1397_1400dup (p.Val468fs)
NM_205768.3(ZBTB18):c.1408A>G (p.Thr470Ala) rs1572531923
NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter) rs1064792999
Single allele

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