ClinVar Miner

List of variants studied for Autism spectrum disorder

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 653
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.*4377A>T rs513996 0.96749
NM_012309.5(SHANK2):c.-36A>G rs3020047 0.60032
NM_003097.6(SNRPN):c.-89T>C rs705 0.53733
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_012309.5(SHANK2):c.*2583T>C rs55678639 0.27352
NM_022807.5(SNRPN):c.-672T>C rs7170796 0.14308
NM_022807.5(SNRPN):c.-579+5G>A rs56684653 0.13434
NM_012309.5(SHANK2):c.385G>A (p.Val129Met) rs73521173 0.05277
NM_012309.5(SHANK2):c.*4102C>G rs61885874 0.03443
NM_012309.5(SHANK2):c.336C>T (p.Asp112=) rs76014490 0.03111
NM_012309.5(SHANK2):c.520C>T (p.Arg174Cys) rs7926203 0.02486
HLA-B*57:01 rs2395029 0.02358
NM_012309.5(SHANK2):c.483+14G>A rs75938961 0.02166
NM_003097.6(SNRPN):c.-39G>A rs75184959 0.01903
NM_022807.5(SNRPN):c.-569C>T rs80135925 0.01706
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys) rs76187047 0.01292
NM_012309.5(SHANK2):c.*3245T>C rs78378706 0.01218
NM_003097.6(SNRPN):c.-378C>T rs426541 0.01033
NM_012309.5(SHANK2):c.207+15C>T rs77851214 0.00908
NM_012309.5(SHANK2):c.483+13C>T rs117706585 0.00882
NM_012309.5(SHANK2):c.*1597T>G rs2154625 0.00746
NM_003097.6(SNRPN):c.3+10A>G rs112560608 0.00515
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_012309.5(SHANK2):c.168G>A (p.Thr56=) rs150944234 0.00325
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_012309.5(SHANK2):c.396C>A (p.Gly132=) rs148065633 0.00290
NM_012309.5(SHANK2):c.51C>T (p.Ser17=) rs376267466 0.00265
NM_022807.5(SNRPN):c.-584A>G rs58890023 0.00181
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_015100.4(POGZ):c.4089T>G (p.His1363Gln) rs142860188 0.00106
NM_012309.5(SHANK2):c.256C>A (p.Arg86=) rs377135249 0.00051
NM_012309.5(SHANK2):c.625G>A (p.Asp209Asn) rs183556625 0.00034
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_003097.6(SNRPN):c.183T>C (p.Arg61=) rs373215950 0.00031
NM_012309.5(SHANK2):c.136G>A (p.Gly46Ser) rs201642016 0.00031
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_012309.5(SHANK2):c.900C>T (p.His300=) rs529058522 0.00029
NM_012309.5(SHANK2):c.*3475C>G rs568643386 0.00028
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_012309.5(SHANK2):c.771A>G (p.Pro257=) rs200821952 0.00019
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_012309.5(SHANK2):c.*585C>T rs568990616 0.00016
NM_003097.6(SNRPN):c.-274G>A rs142583293 0.00014
NM_012309.5(SHANK2):c.*1545T>G rs371429377 0.00014
NM_012309.5(SHANK2):c.332G>A (p.Arg111His) rs368652424 0.00012
NM_003097.6(SNRPN):c.-86G>A rs886051018 0.00011
NM_012309.5(SHANK2):c.*3947C>G rs147625536 0.00011
NM_015100.4(POGZ):c.2792C>T (p.Pro931Leu) rs373783340 0.00011
NM_012309.5(SHANK2):c.581C>T (p.Pro194Leu) rs782210973 0.00010
NM_003097.6(SNRPN):c.-280C>T rs372295822 0.00009
NM_004104.5(FASN):c.2719G>A (p.Val907Ile) rs150461663 0.00009
NM_012309.5(SHANK2):c.*591C>A rs879971097 0.00009
NM_015100.4(POGZ):c.757C>T (p.Pro253Ser) rs926772662 0.00009
NM_005215.4(DCC):c.2260G>A (p.Val754Met) rs775565634 0.00008
NM_012309.5(SHANK2):c.1793G>A (p.Arg598His) rs568385491 0.00006
NM_012309.5(SHANK2):c.576C>T (p.His192=) rs561132233 0.00006
NM_016252.4(BIRC6):c.3931A>G (p.Ile1311Val) rs781761645 0.00006
NM_003097.6(SNRPN):c.-20G>T rs763736287 0.00005
NM_152744.4(SDK1):c.6016G>A (p.Glu2006Lys) rs779551787 0.00005
NM_001329998.2(TRANK1):c.2833G>A (p.Val945Ile) rs368536894 0.00004
NM_001394998.1(TANC2):c.2486G>A (p.Arg829His) rs775421108 0.00004
NM_003097.6(SNRPN):c.-295+8C>G rs371808119 0.00004
NM_015100.4(POGZ):c.3607G>A (p.Glu1203Lys) rs756483529 0.00004
NM_015100.4(POGZ):c.3659A>G (p.Gln1220Arg) rs769581210 0.00004
NM_016032.4(ZDHHC9):c.881+3G>A rs775743190 0.00004
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter) rs201037487 0.00004
NM_000548.5(TSC2):c.454C>G (p.His152Asp) rs397515285 0.00003
NM_001059.3(TACR3):c.692C>T (p.Thr231Ile) rs764659822 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_006015.6(ARID1A):c.500C>T (p.Ala167Val) rs1327610437 0.00003
NM_012309.5(SHANK2):c.191A>G (p.His64Arg) rs200995537 0.00003
NM_012309.5(SHANK2):c.397G>T (p.Val133Phe) rs1463147374 0.00003
NM_012309.5(SHANK2):c.722C>T (p.Ala241Val) rs749039621 0.00003
NM_015100.4(POGZ):c.1072A>G (p.Met358Val) rs574158925 0.00003
NM_015100.4(POGZ):c.1375G>A (p.Asp459Asn) rs888864913 0.00003
NM_015100.4(POGZ):c.2542C>T (p.Arg848Trp) rs548226228 0.00003
NM_015324.4(RRP8):c.803G>A (p.Arg268His) rs759913983 0.00003
NM_017739.4(POMGNT1):c.*11del rs1391347556 0.00003
NM_020759.3(STARD9):c.4802G>A (p.Arg1601Gln) rs1380480578 0.00003
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00002
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_012309.5(SHANK2):c.*3246G>A rs1357516309 0.00002
NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp) rs267598016 0.00002
NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln) rs763820362 0.00002
NM_015100.4(POGZ):c.1549G>A (p.Val517Ile) rs754532606 0.00002
NM_015100.4(POGZ):c.2557A>G (p.Ile853Val) rs749270162 0.00002
NM_015100.4(POGZ):c.2591G>A (p.Arg864Gln) rs753214391 0.00002
NM_015100.4(POGZ):c.3116G>A (p.Arg1039His) rs760059077 0.00002
NM_022807.5(SNRPN):c.-636C>A rs886051013 0.00002
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
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_001024843.2(TNRC6B):c.46-2A>G rs146996627 0.00001
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=) rs1347561457 0.00001
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097 0.00001
NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys) rs371294659 0.00001
NM_001271.4(CHD2):c.5134C>T (p.His1712Tyr) rs1006465697 0.00001
NM_001282534.2(KCNK9):c.907C>T (p.Arg303Cys) rs775502608 0.00001
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser) rs1365914320 0.00001
NM_001365.5(DLG4):c.20-1G>C rs759282824 0.00001
NM_001378457.1(DMXL2):c.6137C>T (p.Ala2046Val) rs1416564508 0.00001
NM_001394998.1(TANC2):c.3104G>A (p.Arg1035Gln) rs374131489 0.00001
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002291.3(LAMB1):c.144del (p.Lys49fs) rs1471515174 0.00001
NM_003097.6(SNRPN):c.-110T>G rs190439178 0.00001
NM_003097.6(SNRPN):c.-386C>T rs776280755 0.00001
NM_003097.6(SNRPN):c.524C>T (p.Pro175Leu) rs886051020 0.00001
NM_003246.4(THBS1):c.2875C>T (p.Arg959Ter) rs796320749 0.00001
NM_003320.5(TUB):c.139G>A (p.Gly47Ser) rs769088023 0.00001
NM_003486.7(SLC7A5):c.1124C>T (p.Pro375Leu) rs757972971 0.00001
NM_004562.3(PRKN):c.850G>C (p.Gly284Arg) rs751037529 0.00001
NM_006662.3(SRCAP):c.143C>T (p.Pro48Leu) rs1170509653 0.00001
NM_007050.6(PTPRT):c.548G>A (p.Arg183Gln) rs768757373 0.00001
NM_012309.5(SHANK2):c.*1022T>C rs1591470586 0.00001
NM_012309.5(SHANK2):c.744+8C>T rs529300603 0.00001
NM_012309.5(SHANK2):c.7C>T (p.Arg3Cys) rs373379917 0.00001
NM_012309.5(SHANK2):c.820G>A (p.Val274Ile) rs1555094289 0.00001
NM_015100.4(POGZ):c.130G>A (p.Val44Met) rs752798900 0.00001
NM_015100.4(POGZ):c.1978A>G (p.Lys660Glu) rs1418634444 0.00001
NM_015100.4(POGZ):c.211G>A (p.Val71Ile) rs866632178 0.00001
NM_015100.4(POGZ):c.2608G>A (p.Val870Met) rs772572695 0.00001
NM_015100.4(POGZ):c.3343C>G (p.Gln1115Glu) rs778792467 0.00001
NM_015100.4(POGZ):c.3373A>G (p.Ile1125Val) rs760211123 0.00001
NM_015100.4(POGZ):c.3559C>T (p.Pro1187Ser) rs202098093 0.00001
NM_015100.4(POGZ):c.3880T>C (p.Ser1294Pro) rs1484207450 0.00001
NM_015100.4(POGZ):c.4042G>C (p.Glu1348Gln) rs756691187 0.00001
NM_015100.4(POGZ):c.499A>G (p.Met167Val) rs375045125 0.00001
NM_015100.4(POGZ):c.830A>G (p.Gln277Arg) rs561369202 0.00001
NM_015100.4(POGZ):c.942C>G (p.Ser314Arg) rs574335012 0.00001
NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg) rs986702153 0.00001
NM_017947.4(MOCOS):c.2326C>T (p.Arg776Cys) rs750896617 0.00001
NM_019040.5(ELP4):c.284del (p.Ser95fs) rs754625061 0.00001
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
NM_022807.5(SNRPN):c.-504-12T>C rs886051015 0.00001
NM_022807.5(SNRPN):c.-819C>A rs886051012 0.00001
NM_022807.5(SNRPN):c.-823T>C rs886051011 0.00001
NM_032531.4(KIRREL3):c.1985G>A (p.Arg662His) rs773312950 0.00001
NM_152722.5(HEPACAM):c.803+1G>A rs375712202 0.00001
10q21.3duplication
15q11.2-12duplication
15q13.3duplication
15q25.3duplication
16q24.1duplication
1q41 duplication
1q42.2deletion
20p12.1duplication
22q11.21deletion
2q14.3duplication
2q24.3deletion
2q37.3deletion
4q35.2deletion
5p15.31duplication
6p22.3duplication
6q23.3deletion
7q31.1duplication
7q31.32deletion
7q32.3duplication
7q35 duplication
8q24.13duplication
8q24.3duplication
9p24.1deletion
GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)
GRCh38/hg38 10p11.21(chr10:34891282-35211554)
GRCh38/hg38 11p15.5(chr11:313988-723647)
GRCh38/hg38 12q24.31(chr12:123141008-123578625)
GRCh38/hg38 14q21.2-21.3(chr14:46402812-47162762)
GRCh38/hg38 15q11.2(chr15:22633497-23084434)
GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)
GRCh38/hg38 16p11.2(chr16:28825316-29028291)
GRCh38/hg38 16p13.11(chr16:15399656-16194269)
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)
GRCh38/hg38 16p13.2(chr16:8937723-10049200)
GRCh38/hg38 17p13.3(chr17:2500691-2687314)
GRCh38/hg38 17q12(chr17:36466109-37946106)
GRCh38/hg38 18p11.21(chr18:12244578-12507815)
GRCh38/hg38 1q31.2-31.3(chr1:193733481-196205927)
GRCh38/hg38 2p16.3(chr2:50590007-50802034)
GRCh38/hg38 2q13(chr2:109301667-110460985)
GRCh38/hg38 3p13(chr3:71518345-71562911)
GRCh38/hg38 4q21.21(chr4:78722180-79522307)
GRCh38/hg38 4q35.2(chr4:187200844-188870692)
GRCh38/hg38 5p13.2(chr5:33977416-34745466)
GRCh38/hg38 5q13.2(chr5:71378409-72329454)
GRCh38/hg38 5q23.1(chr5:119555413-119745470)
GRCh38/hg38 6q15(chr6:88638119-89726639)
GRCh38/hg38 7p15.2(chr7:25988742-26495573)
GRCh38/hg38 7p21.3(chr7:12875659-13231798)
GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)
GRCh38/hg38 7q34(chr7:140901060-141011481)
GRCh38/hg38 7q35(chr7:146320644-146339450)
GRCh38/hg38 Xq24(chrX:119146025-119709342)
GRCh38/hg38 Xq28(chrX:152819425-152869723)
NC_000002.12:g.(?_1852302)_(2191394_?)dup
NC_000002.12:g.(?_50574106)_(50580198_?)del
NC_000003.12:g.(?_175372620)_(176011214_?)del
NC_000004.12:g.(?_186013132)_(186215992_?)dup
NC_000007.13:g.(?_57260919)_(57882330_?)dup
NC_000007.14:g.(?_148411122)_(148421361_?)dup
NC_000009.12:g.27536399C>T
NC_000011.10:g.(?_48359351)_(48946475_?)del
NC_000016.10:g.(?_29390980)_(30215610_?)dup
NC_000016.10:g.(?_29506378)_(30180574_?)del
NC_000016.10:g.(?_29506378)_(30180574_?)dup
NC_000016.10:g.(?_29602174)_(30178709_?)dup
NC_000016.10:g.(?_29685652)_(30180586_?)dup
NC_000023.11:g.(?_100366731)_(100369616_?)del
NC_000023.11:g.(?_28852188)_(28855815_?)del
NC_000023.11:g.(?_80671287)_(80671570_?)dup
NM_000142.5(FGFR3):c.172G>C (p.Glu58Gln)
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
NM_000314.8(PTEN):c.-116dup rs1564801388
NM_000314.8(PTEN):c.-60dup rs1564801473
NM_000548.5(TSC2):c.1597A>C (p.Lys533Gln) rs397515038
NM_000548.5(TSC2):c.183A>G (p.Ile61Met) rs2084961841
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_000719.7(CACNA1C):c.1480G>T (p.Ala494Ser)
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) rs786205755
NM_000810.4(GABRA5):c.730T>C (p.Tyr244His)
NM_000815.5(GABRD):c.370A>G (p.Thr124Ala)
NM_000827.4(GRIA1):c.1444G>T (p.Val482Phe)
NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp) rs1561846159
NM_000829.4(GRIA4):c.83A>C (p.Gln28Pro)
NM_000834.5(GRIN2B):c.23_24insC (p.Ser9fs)
NM_000834.5(GRIN2B):c.2431A>T (p.Ser811Cys)
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter) rs121912562
NM_000944.5(PPP3CA):c.1530_1537dup (p.Asn513fs)
NM_001003800.2(BICD2):c.1849del (p.Pro616_Leu617insTer)
NM_001005273.3(CHD3):c.107A>T (p.Asp36Val)
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) rs2063451959
NM_001039469.3(MARK2):c.1101+1G>A
NM_001039469.3(MARK2):c.1120del (p.Thr374fs) rs1554985733
NM_001039469.3(MARK2):c.1181dup (p.Val395fs)
NM_001039469.3(MARK2):c.1514+2T>G
NM_001039469.3(MARK2):c.1516dup (p.Leu506fs)
NM_001039469.3(MARK2):c.1750C>T (p.Arg584Ter)
NM_001039469.3(MARK2):c.1769del (p.Gly590fs)
NM_001039469.3(MARK2):c.1888dup (p.Ala630fs)
NM_001039469.3(MARK2):c.1934+1G>A
NM_001039469.3(MARK2):c.1939_1940del (p.Leu647fs)
NM_001039469.3(MARK2):c.1990C>T (p.Arg664Ter)
NM_001039469.3(MARK2):c.211C>T (p.Arg71Ter)
NM_001039469.3(MARK2):c.2168_2169del (p.Cys723fs)
NM_001039469.3(MARK2):c.2239C>T (p.Gln747Ter)
NM_001039469.3(MARK2):c.2255T>C (p.Val752Ala)
NM_001039469.3(MARK2):c.2291G>C (p.Arg764Pro)
NM_001039469.3(MARK2):c.235-2A>G
NM_001039469.3(MARK2):c.239C>T (p.Ala80Val)
NM_001039469.3(MARK2):c.258_259dup (p.Thr87fs)
NM_001039469.3(MARK2):c.288dup (p.Leu97fs)
NM_001039469.3(MARK2):c.337+1G>T
NM_001039469.3(MARK2):c.403G>A (p.Gly135Arg)
NM_001039469.3(MARK2):c.581T>C (p.Phe194Ser) rs1940729976
NM_001039469.3(MARK2):c.757C>T (p.Gln253Ter)
NM_001039469.3(MARK2):c.812del (p.Phe271fs)
NM_001039469.3(MARK2):c.904C>T (p.Arg302Ter) rs1468332923
NM_001039469.3(MARK2):c.905G>A (p.Arg302Gln)
NM_001039469.3(MARK2):c.989-1G>A
NM_001040142.2(SCN2A):c.1800del (p.Phe601fs)
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001042492.3(NF1):c.1721+21dup rs762735676
NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter) rs1641565884
NM_001046.3(SLC12A2):c.1529A>G (p.Asp510Gly)
NM_001079843.3(CASZ1):c.2161A>G (p.Ser721Gly)
NM_001080517.3(SETD5):c.2591dup (p.Ser865fs) rs2044336029
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter) rs587784464
NM_001093.4(ACACB):c.1963A>G (p.Ser655Gly) rs2044635183
NM_001100399.2(PDS5A):c.663_666del (p.Lys222fs)
NM_001110792.2(MECP2):c.556A>C (p.Lys186Gln)
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)
NM_001111125.3(IQSEC2):c.1229del (p.Pro410fs) rs1569305431
NM_001127222.2(CACNA1A):c.2950C>T (p.Arg984Trp)
NM_001127715.4(STXBP5):c.2498_2499insT (p.Gly834fs)
NM_001128840.3(CACNA1D):c.2777T>C (p.Phe926Ser)
NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)
NM_001130438.3(SPTAN1):c.3102T>G (p.Asn1034Lys)
NM_001130438.3(SPTAN1):c.5818G>T (p.Asp1940Tyr)
NM_001143831.3(GRM5):c.523A>G (p.Thr175Ala) rs1941663554
NM_001144967.3(NEDD4L):c.2399C>A (p.Thr800Lys)
NM_001148.6(ANK2):c.29G>A (p.Ser10Asn)
NM_001148.6(ANK2):c.3580G>T (p.Val1194Leu)
NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter)
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)
NM_001161352.2(KCNMA1):c.280T>G (p.Ser94Ala)
NM_001162501.2(TNRC6B):c.2233G>A (p.Gly745Arg)
NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter)
NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)
NM_001170629.2(CHD8):c.2345del (p.His782fs) rs886039692
NM_001170629.2(CHD8):c.2365-10T>G
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter) rs1131691548
NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val) rs1064795655
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile) rs1888123647
NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) rs774152851
NM_001170629.2(CHD8):c.7508A>C (p.His2503Pro)
NM_001170629.2(CHD8):c.7638TGA[2] (p.Asp2549del)
NM_001172509.2(SATB2):c.1861A>T (p.Ile621Phe) rs1692190479
NM_001184880.2(PCDH19):c.1516G>A (p.Val506Ile)
NM_001190737.2(NFIB):c.254G>T (p.Arg85Leu)
NM_001190737.2(NFIB):c.769G>C (p.Val257Leu)
NM_001197104.2(KMT2A):c.10835+1G>A
NM_001197104.2(KMT2A):c.4054A>G (p.Ser1352Gly)
NM_001197104.2(KMT2A):c.836C>G (p.Ser279Cys)
NM_001197104.2(KMT2A):c.9575A>C (p.Gln3192Pro)
NM_001220.5(CAMK2B):c.1528G>T (p.Glu510Ter)
NM_001220.5(CAMK2B):c.767A>G (p.Asn256Ser)
NM_001256012.3(MYH10):c.3364G>T (p.Glu1122Ter)
NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)
NM_001271.4(CHD2):c.5474T>G (p.Val1825Gly)
NM_001271.4(CHD2):c.995_999del (p.Val332fs)
NM_001282116.2(RFX3):c.1801T>C (p.Trp601Arg)
NM_001282531.3(ADNP):c.2250_2274del (p.Val751fs) rs1980878343
NM_001282680.3(GAPVD1):c.2561del (p.Pro854fs)
NM_001289080.2(CNTN6):c.1492+1G>T
NM_001291415.2(KDM6A):c.3190dup (p.Trp1064fs)
NM_001303052.2(MYT1L):c.1029G>C (p.Glu343Asp)
NM_001303052.2(MYT1L):c.1181G>C (p.Arg394Thr)
NM_001306215.2(ZNF827):c.590T>A (p.Leu197Ter)
NM_001306215.2(ZNF827):c.706C>T (p.Arg236Ter)
NM_001318510.2(ACSL4):c.449A>T (p.His150Leu) rs374685754
NM_001320.7(CSNK2B):c.72+1G>T
NM_001329998.2(TRANK1):c.6458C>A (p.Thr2153Lys) rs2078720428
NM_001330078.2(NRXN1):c.1066del (p.Glu356fs)
NM_001330078.2(NRXN1):c.1832A>T (p.Asp611Val)
NM_001330078.2(NRXN1):c.3071-1G>C
NM_001330078.2(NRXN1):c.3430C>T (p.Arg1144Ter) rs1282230077
NM_001330078.2(NRXN1):c.471dup (p.Leu158fs)
NM_001330195.2(NRXN3):c.1394C>T (p.Thr465Ile)
NM_001330195.2(NRXN3):c.4097dup (p.Ser1367fs)
NM_001330700.2(TOP2B):c.187C>T (p.His63Tyr) rs886039770
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001348800.3(ZBTB20):c.-342-50205del
NM_001349338.3(FOXP1):c.1313G>A (p.Arg438Gln) rs2037908174
NM_001350605.2(SRSF11):c.271G>C (p.Val91Leu)
NM_001352027.3(PHF21A):c.1493G>A (p.Ser498Asn)
NM_001353921.2(ARHGEF9):c.16G>A (p.Gly6Ser) rs2056441301
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys) rs2050115619
NM_001363540.2(DOCK4):c.2689C>T (p.Pro897Ser)
NM_001370348.2(PHF3):c.1592A>G (p.Asn531Ser)
NM_001371928.1(AHDC1):c.1322C>T (p.Pro441Leu)
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs) rs2083275928
NM_001372044.2(SHANK3):c.3649_3650del (p.Leu1217fs) rs1555910143
NM_001372044.2(SHANK3):c.3904dup (p.Ala1302fs) rs762292772
NM_001374736.1(DST):c.89_97dup (p.Ala30_Ile32dup) rs1824238311
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter) rs1554301257
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001375380.1(EBF3):c.146T>C (p.Leu49Pro)
NM_001375380.1(EBF3):c.1593_1605del (p.Ser532fs)
NM_001375380.1(EBF3):c.232C>T (p.Gln78Ter)
NM_001375765.1(GIGYF1):c.1683del (p.Leu562fs)
NM_001375765.1(GIGYF1):c.2052+2T>C
NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly)
NM_001375765.1(GIGYF1):c.658del (p.Arg220fs)
NM_001376.5(DYNC1H1):c.10195C>T (p.Gln3399Ter)
NM_001376.5(DYNC1H1):c.10637A>G (p.Asp3546Gly)
NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His) rs770451110
NM_001376.5(DYNC1H1):c.12653C>T (p.Thr4218Met)
NM_001376.5(DYNC1H1):c.4396-1G>C
NM_001376.5(DYNC1H1):c.6512A>T (p.His2171Leu)
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter) rs2105571544
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_001378418.1(TCF20):c.2803C>T (p.Gln935Ter)
NM_001378418.1(TCF20):c.3424G>A (p.Gly1142Ser)
NM_001378418.1(TCF20):c.5555T>G (p.Phe1852Cys)
NM_001384609.1(SLITRK5):c.175G>T (p.Gly59Cys) rs368879058
NM_001384609.1(SLITRK5):c.976C>T (p.Pro326Ser) rs1473886214
NM_001385012.1(NBEA):c.1711C>G (p.Leu571Val)
NM_001385012.1(NBEA):c.5206dup (p.Ser1736fs)
NM_001386298.1(CIC):c.1975C>T (p.Arg659Cys)
NM_001386298.1(CIC):c.2131_2150delinsACGAT (p.Pro711_Glu717delinsThrMet)
NM_001386298.1(CIC):c.4981delinsCTTCCC (p.Thr1661fs)
NM_001386298.1(CIC):c.7018A>C (p.Lys2340Gln)
NM_001388303.1(HECTD4):c.9724dup (p.Ala3242fs)
NM_001389617.1(NAV1):c.6015G>A (p.Trp2005Ter)
NM_001393499.1(BICRAL):c.579dup (p.Ile194fs)
NM_001394998.1(TANC2):c.1441+1G>A rs2045256930
NM_001394998.1(TANC2):c.3073G>A (p.Gly1025Arg)
NM_001394998.1(TANC2):c.3418C>T (p.Arg1140Ter) rs2048464266
NM_001394998.1(TANC2):c.3866T>C (p.Val1289Ala)
NM_001394998.1(TANC2):c.4328G>A (p.Arg1443His)
NM_001394998.1(TANC2):c.5318A>G (p.His1773Arg) rs2049010059
NM_001394998.1(TANC2):c.5596T>G (p.Phe1866Val)
NM_001394998.1(TANC2):c.769+1G>A rs1419550439
NM_001395159.1(UNC79):c.5702T>C (p.Phe1901Ser) rs774688629
NM_001407.3(CELSR3):c.4399+1G>C
NM_001416.4(EIF4A1):c.931C>T (p.Arg311Ter)
NM_002246.3(KCNK3):c.460G>A (p.Val154Met)
NM_002246.3(KCNK3):c.632A>G (p.Asp211Gly)
NM_002252.5(KCNS3):c.601G>A (p.Ala201Thr) rs1662975878
NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)
NM_002397.5(MEF2C):c.403-1G>T rs1561824498
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002547.3(OPHN1):c.188C>G (p.Thr63Arg)
NM_002573.4(PAFAH1B3):c.571T>C (p.Tyr191His) rs2038538013
NM_002585.4(PBX1):c.550C>T (p.Arg184Ter) rs1553248081
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002831.6(PTPN6):c.1206+2T>G
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
NM_002971.6(SATB1):c.2194G>T (p.Val732Phe)
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter) rs1569513495
NM_003036.4(SKI):c.898C>T (p.Leu300Phe) rs1569660908
NM_003070.5(SMARCA2):c.4045C>T (p.Arg1349Ter)
NM_003070.5(SMARCA2):c.67C>T (p.Pro23Ser)
NM_003073.5(SMARCB1):c.538G>C (p.Ala180Pro)
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_003074.4(SMARCC1):c.2236C>T (p.Arg746Ter)
NM_003097.6(SNRPN):c.-143-6C>T rs886051017
NM_003097.6(SNRPN):c.-262A>T rs765651266
NM_003097.6(SNRPN):c.-380C>T rs886051016
NM_003097.6(SNRPN):c.421-5C>T rs886051019
NM_003286.4(TOP1):c.1217A>T (p.His406Leu) rs2034059953
NM_003482.4(KMT2D):c.15047T>C (p.Leu5016Pro)
NM_003482.4(KMT2D):c.16146C>G (p.His5382Gln)
NM_003482.4(KMT2D):c.16445T>A (p.Val5482Glu)
NM_003482.4(KMT2D):c.417C>G (p.His139Gln)
NM_003486.7(SLC7A5):c.737C>T (p.Ala246Val) rs2143738378
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter) rs767240461
NM_003590.5(CUL3):c.883+3_883+6del
NM_003628.6(PKP4):c.1784G>A (p.Arg595Gln)
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg) rs1057519632
NM_003797.5(EED):c.767T>C (p.Met256Thr)
NM_003906.5(MCM3AP):c.276del (p.Phe93fs) rs2081390223
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004174.4(SLC9A3):c.914C>T (p.Ser305Leu) rs1456737648
NM_004239.4(TRIP11):c.2395A>G (p.Ser799Gly)
NM_004519.4(KCNQ3):c.1579T>C (p.Phe527Leu)
NM_004535.3(MYT1):c.2138C>T (p.Ser713Phe) rs1983951845
NM_004606.5(TAF1):c.2299C>T (p.Arg767Trp) rs2034289029
NM_004883.3(NRG2):c.872+1G>A
NM_004958.4(MTOR):c.1111G>T (p.Asp371Tyr)
NM_004974.4(KCNA2):c.16G>A (p.Gly6Arg)
NM_005121.3(MED13):c.2645T>C (p.Ile882Thr)
NM_005121.3(MED13):c.540T>G (p.Ile180Met)
NM_005215.4(DCC):c.617A>T (p.Asp206Val)
NM_005249.5(FOXG1):c.677A>C (p.Gln226Pro)
NM_005392.4(PHF2):c.1923C>G (p.Asn641Lys)
NM_005392.4(PHF2):c.3142G>A (p.Val1048Ile)
NM_005445.4(SMC3):c.2413C>T (p.Arg805Cys) rs760111391
NM_005458.8(GABBR2):c.2660+2T>G
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
NM_005898.5(CAPRIN1):c.1084C>T (p.Leu362Phe)
NM_005955.3(MTF1):c.1051C>T (p.Arg351Ter)
NM_006035.4(CDC42BPB):c.3304G>A (p.Val1102Ile)
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr) rs1595127294
NM_006180.6(NTRK2):c.1816G>A (p.Glu606Lys)
NM_006180.6(NTRK2):c.479A>G (p.Lys160Arg)
NM_006180.6(NTRK2):c.91G>C (p.Ala31Pro)
NM_006186.4(NR4A2):c.1566G>T (p.Lys522Asn)
NM_006186.4(NR4A2):c.598_601dup (p.Pro201fs) rs1686821540
NM_006268.5(DPF2):c.8C>G (p.Ala3Gly)
NM_006321.4(ARIH2):c.1411-3C>T
NM_006372.5(SYNCRIP):c.1573_1574delinsTT (p.Gln525Leu) rs1805615555
NM_006372.5(SYNCRIP):c.629T>C (p.Phe210Ser) rs1808543772
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)
NM_006618.5(KDM5B):c.563G>A (p.Gly188Glu)
NM_006662.3(SRCAP):c.3734G>T (p.Gly1245Val)
NM_006734.4(HIVEP2):c.5693C>G (p.Ser1898Cys)
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser) rs1822869930
NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys)
NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)
NM_006767.4(LZTR1):c.774del (p.Phe258fs) rs780267761
NM_006885.4(ZFHX3):c.2037C>G (p.His679Gln)
NM_006885.4(ZFHX3):c.7090C>G (p.Gln2364Glu)
NM_006924.5(SRSF1):c.70C>T (p.Pro24Ser)
NM_006940.6(SOX5):c.1628A>G (p.Tyr543Cys)
NM_006950.3(SYN1):c.820C>T (p.His274Tyr)
NM_007074.4(CORO1A):c.314_315del (p.Thr105fs) rs2151062416
NM_007118.4(TRIO):c.5711C>T (p.Pro1904Leu)
NM_007118.4(TRIO):c.7048C>A (p.Pro2350Thr)
NM_007327.4(GRIN1):c.1540G>C (p.Val514Leu)
NM_012141.3(INTS6):c.976A>T (p.Lys326Ter)
NM_012280.4(FTSJ1):c.367G>A (p.Gly123Ser)
NM_012309.5(SHANK2):c.*1533dup rs575407872
NM_012309.5(SHANK2):c.*3067A>G rs1041628240
NM_012309.5(SHANK2):c.*4029A>C rs1170275107
NM_012309.5(SHANK2):c.1510G>A (p.Gly504Ser) rs1590704391
NM_012309.5(SHANK2):c.1636C>G (p.Pro546Ala) rs1590704143
NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter) rs2134275196
NM_012309.5(SHANK2):c.3172C>T (p.Gln1058Ter) rs1591489959
NM_012309.5(SHANK2):c.3382G>C (p.Glu1128Gln)
NM_012309.5(SHANK2):c.4228C>T (p.Pro1410Ser) rs1591487375
NM_012309.5(SHANK2):c.4304_4305del (p.Leu1434_Ser1435insTer) rs1565527302
NM_012309.5(SHANK2):c.4676G>A (p.Ser1559Asn) rs1591486517
NM_012309.5(SHANK2):c.4906C>T (p.Arg1636Ter) rs1565526121
NM_012309.5(SHANK2):c.613G>T (p.Ala205Ser) rs189053721
NM_012309.5(SHANK2):c.745-15A>G rs1555094335
NM_012309.5(SHANK2):c.912+1134C>T rs1555093950
NM_012309.5(SHANK2):c.912+269C>T rs1555094158
NM_012309.5(SHANK2):c.912+3227G>A rs1555093479
NM_012309.5(SHANK2):c.912+3911C>G rs1209216340
NM_012309.5(SHANK2):c.912+4231G>A rs1555093271
NM_013275.6(ANKRD11):c.5044G>T (p.Gly1682Cys)
NM_013275.6(ANKRD11):c.5491G>T (p.Asp1831Tyr)
NM_014141.6(CNTNAP2):c.1778-1G>C rs1396313317
NM_014159.7(SETD2):c.170A>G (p.Lys57Arg)
NM_014159.7(SETD2):c.4464T>G (p.Asn1488Lys)
NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter)
NM_014159.7(SETD2):c.6011A>G (p.Asp2004Gly)
NM_014159.7(SETD2):c.7004A>G (p.Gln2335Arg)
NM_014225.6(PPP2R1A):c.1694A>G (p.Glu565Gly)
NM_014423.4(AFF4):c.2638-4_2638del
NM_014489.4(PGAP2):c.112A>G (p.Ile38Val)
NM_014489.4(PGAP2):c.368C>T (p.Ser123Leu)
NM_014516.4(CNOT3):c.483+5G>A
NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)
NM_014704.4(CEP104):c.830A>T (p.Glu277Val)
NM_014712.3(SETD1A):c.2981_2982del (p.Val994fs)
NM_014718.4(CLSTN3):c.599T>C (p.Ile200Thr) rs1939401816
NM_014727.3(KMT2B):c.428C>T (p.Ser143Phe)
NM_014742.4(TM9SF4):c.1411G>A (p.Gly471Ser)
NM_014892.5(SCAF8):c.3200_3204del (p.Ile1067fs)
NM_014989.7(RIMS1):c.1679-20550G>A
NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter) rs1749810683
NM_014991.6(WDFY3):c.8984C>G (p.Ser2995Cys)
NM_015001.3(SPEN):c.4919C>T (p.Pro1640Leu)
NM_015001.3(SPEN):c.5780C>A (p.Pro1927Gln)
NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)
NM_015001.3(SPEN):c.9811A>G (p.Thr3271Ala)
NM_015100.4(POGZ):c.1318C>G (p.Pro440Ala) rs1557902023
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)
NM_015100.4(POGZ):c.1445C>G (p.Ala482Gly) rs1557901347
NM_015100.4(POGZ):c.1940A>C (p.Tyr647Ser) rs749548928
NM_015100.4(POGZ):c.1948A>C (p.Asn650His) rs1557874046
NM_015100.4(POGZ):c.2396G>A (p.Ser799Asn) rs1557870645
NM_015100.4(POGZ):c.2705C>T (p.Thr902Ile) rs1557867853
NM_015100.4(POGZ):c.272C>A (p.Ala91Asp) rs1557935477
NM_015100.4(POGZ):c.303G>T (p.Gln101His) rs1557916296
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp) rs1653514334
NM_015100.4(POGZ):c.319C>G (p.Leu107Val) rs998675361
NM_015100.4(POGZ):c.3388T>G (p.Leu1130Val) rs1276388879
NM_015100.4(POGZ):c.3772A>T (p.Ser1258Cys) rs1557863546
NM_015100.4(POGZ):c.3802A>G (p.Ile1268Val) rs1557863440
NM_015100.4(POGZ):c.3806A>G (p.Lys1269Arg) rs1557863430
NM_015100.4(POGZ):c.4132A>C (p.Thr1378Pro) rs370498156
NM_015100.4(POGZ):c.4207G>A (p.Ala1403Thr) rs1452048149
NM_015100.4(POGZ):c.625A>T (p.Met209Leu) rs1557911386
NM_015100.4(POGZ):c.749A>G (p.Lys250Arg) rs1557910728
NM_015100.4(POGZ):c.794C>G (p.Thr265Ser) rs1476293577
NM_015100.4(POGZ):c.860C>T (p.Ala287Val) rs1372713010
NM_015100.4(POGZ):c.902T>C (p.Phe301Ser) rs1557909821
NM_015100.4(POGZ):c.970C>G (p.Leu324Val) rs1557909572
NM_015151.4(DIP2A):c.1429+2T>G
NM_015151.4(DIP2A):c.4446C>G (p.His1482Gln)
NM_015151.4(DIP2A):c.850A>C (p.Lys284Gln)
NM_015155.3(LARP4B):c.801_802del (p.Cys267_Glu268delinsTer) rs1832871459
NM_015267.4(CUX2):c.2291C>T (p.Pro764Leu)
NM_015317.5(PUM2):c.349-2A>G
NM_015329.4(MAU2):c.744C>G (p.Ser248Arg)
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter) rs2011568558
NM_015338.6(ASXL1):c.2071C>A (p.Leu691Ile)
NM_015542.4(UPF2):c.91G>T (p.Val31Leu) rs1834606114
NM_015570.4(AUTS2):c.1960G>A (p.Val654Ile)
NM_015570.4(AUTS2):c.2309C>T (p.Thr770Ile)
NM_015570.4(AUTS2):c.2887G>C (p.Glu963Gln)
NM_015570.4(AUTS2):c.2915A>T (p.Glu972Val)
NM_015570.4(AUTS2):c.3062C>T (p.Ser1021Leu)
NM_015570.4(AUTS2):c.983_984del (p.Thr328fs)
NM_015981.4(CAMK2A):c.816G>A (p.Ser272=) rs2150279471
NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp) rs746964903
NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe) rs2131335751
NM_016188.5(ACTL6B):c.465del (p.Ala156fs) rs2131335747
NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro) rs2131334872
NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter) rs2131333638
NM_016604.4(KDM3B):c.3047-1G>A
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_017780.4(CHD7):c.2241G>C (p.Lys747Asn)
NM_017934.7(PHIP):c.589C>T (p.Arg197Trp)
NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met) rs61745597
NM_018489.3(ASH1L):c.6218G>A (p.Arg2073His)
NM_018489.3(ASH1L):c.731C>T (p.Thr244Ile)
NM_018489.3(ASH1L):c.7622C>T (p.Ala2541Val)
NM_018489.3(ASH1L):c.8771T>C (p.Leu2924Pro)
NM_019040.5(ELP4):c.1144-19903_1144-19902del
NM_019066.5(MAGEL2):c.843TCCAGG[1] (p.282PG[1])
NM_019108.4(SMG9):c.947A>G (p.His316Arg) rs372754806
NM_020134.4(DPYSL5):c.600+2C>T
NM_020338.4(ZMIZ1):c.2131C>T (p.Arg711Trp)
NM_020699.4(GATAD2B):c.1433G>A (p.Arg478Gln)
NM_020774.4(MIB1):c.2212-3C>G
NM_021008.4(DEAF1):c.664+2T>G rs1564950387
NM_021008.4(DEAF1):c.838A>G (p.Thr280Ala)
NM_021135.6(RPS6KA2):c.1696G>A (p.Gly566Arg) rs1254821821
NM_021964.3(ZNF148):c.1994C>G (p.Ser665Cys)
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022552.5(DNMT3A):c.1280A>T (p.Glu427Val)
NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)
NM_022720.7(DGCR8):c.2060_2061del (p.His687fs)
NM_022807.5(SNRPN):c.-596del rs886051014
NM_022807.5(SNRPN):c.-841T>A rs886051010
NM_022817.3(PER2):c.2399A>G (p.Lys800Arg)
NM_022817.3(PER2):c.958G>C (p.Gly320Arg)
NM_022897.5(RANBP17):c.1710+75929A>G rs2127639991
NM_024490.4(ATP10A):c.2397C>A (p.Tyr799Ter) rs753168128
NM_024496.4(IRF2BPL):c.1846del (p.Ala616fs)
NM_024570.4(RNASEH2B):c.845C>T (p.Ala282Val)
NM_025137.4(SPG11):c.4955C>G (p.Thr1652Arg) rs2082749902
NM_025176.6(NINL):c.2086C>T (p.Gln696Ter)
NM_025176.6(NINL):c.2344G>T (p.Glu782Ter)
NM_030632.3(ASXL3):c.3737C>A (p.Ser1246Ter)
NM_030632.3(ASXL3):c.4409del (p.Pro1470fs)
NM_030632.3(ASXL3):c.5221T>G (p.Ser1741Ala)
NM_030632.3(ASXL3):c.6395A>C (p.Lys2132Thr)
NM_030966.2(KRTAP1-3):c.121C>G (p.Gln41Glu) rs78298475
NM_031206.7(LAS1L):c.949G>A (p.Glu317Lys)
NM_031407.7(HUWE1):c.504+5G>A
NM_031466.8(TRAPPC9):c.-68C>T
NM_031844.3(HNRNPU):c.1357T>G (p.Cys453Gly)
NM_032322.4(RNF135):c.1015del (p.Val339fs) rs724159978
NM_032531.4(KIRREL3):c.613C>T (p.Arg205Trp)
NM_032776.3(JMJD1C):c.667dup (p.Met223fs) rs1848103102
NM_033225.6(CSMD1):c.2381A>C (p.His794Pro) rs1811902928
NM_052867.4(NALCN):c.19A>T (p.Ser7Cys)
NM_052867.4(NALCN):c.682C>T (p.His228Tyr) rs2045687348
NM_057175.5(NAA15):c.692-5A>G
NM_138576.4(BCL11B):c.784_820del (p.Arg262fs)
NM_152641.4(ARID2):c.4693G>A (p.Val1565Ile)
NM_153252.5(BRWD3):c.4510G>A (p.Glu1504Lys)
NM_170606.3(KMT2C):c.11670+1G>C
NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu)
NM_170606.3(KMT2C):c.14707G>T (p.Ala4903Ser)
NM_170606.3(KMT2C):c.4337G>A (p.Gly1446Glu)
NM_170606.3(KMT2C):c.6902A>C (p.Gln2301Pro)
NM_170606.3(KMT2C):c.817G>A (p.Val273Met)
NM_170606.3(KMT2C):c.8649del (p.Arg2884fs) rs2093231242
NM_170744.5(UNC5B):c.701G>A (p.Arg234His)
NM_172107.4(KCNQ2):c.112G>C (p.Gly38Arg)
NM_172107.4(KCNQ2):c.1189C>T (p.Leu397Phe)
NM_172107.4(KCNQ2):c.1603G>A (p.Gly535Ser)
NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg) rs1922524280
NM_173569.4(UBN2):c.2024+1G>A rs1585016242
NM_173602.3(DIP2B):c.3893T>G (p.Phe1298Cys)
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
NM_181303.2(NLGN3):c.2389C>T (p.Arg797Trp)
NM_181303.2(NLGN3):c.814A>T (p.Ile272Phe) rs2147900298
NM_181332.3(NLGN4X):c.542C>T (p.Thr181Ile)
NM_182931.3(KMT2E):c.1378G>T (p.Ala460Ser)
NM_198880.3(QRICH1):c.728A>C (p.Gln243Pro)
NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys) rs760538597
Single allele

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