ClinVar Miner

List of variants reported as likely pathogenic for Neurodevelopmental disorder

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ClinVar version:
Total variants: 325
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HGVS dbSNP gnomAD frequency
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_001128126.3(AP4S1):c.138+1G>A rs200033849 0.00004
NM_032242.4(PLXNA1):c.2641C>T (p.Arg881Trp) rs762983679 0.00004
NM_032242.4(PLXNA1):c.3554G>A (p.Arg1185Gln) rs375833812 0.00002
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln) rs1429234959 0.00001
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys) rs367757240 0.00001
NM_001366521.1(ATP2B1):c.2365C>T (p.Arg789Cys) rs1161061134 0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) rs766478634 0.00001
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter) rs1774516234 0.00001
NM_030973.4(MED25):c.820-1G>A rs551069830 0.00001
NM_032242.4(PLXNA1):c.1549C>T (p.Gln517Ter) rs1204647586 0.00001
NM_032242.4(PLXNA1):c.4483C>T (p.Arg1495Trp) rs2079185551 0.00001
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3
NC_000002.11:g.39053852_42501893dup
NC_000013.11:g.41074134_41090164del
NM_000048.4(ASL):c.374T>C (p.Met125Thr)
NM_000048.4(ASL):c.502C>A (p.Arg168Ser) rs766832061
NM_000388.4(CASR):c.2516T>C (p.Ile839Thr) rs2107650645
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) rs2146717703
NM_000834.5(GRIN2B):c.1079C>T (p.Pro360Leu)
NM_000875.5(IGF1R):c.2128_2139del (p.Gln710_Lys713del)
NM_000875.5(IGF1R):c.3137_3138del (p.Glu1046fs)
NM_000875.5(IGF1R):c.77G>A (p.Trp26Ter) rs2141155238
NM_000937.5(POLR2A):c.3281C>T (p.Ser1094Phe) rs775858617
NM_001003694.2(BRPF1):c.2065dup (p.Glu689fs) rs2125507991
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His) rs2111857835
NM_001007527.2(LMBRD2):c.1460C>T (p.Pro487Leu) rs2111857806
NM_001009880.2(KIAA0930):c.965C>T (p.Ser322Leu) rs2147734951
NM_001009880.2(KIAA0930):c.971C>T (p.Ser324Leu) rs2147734941
NM_001009880.2(KIAA0930):c.973G>A (p.Ala325Thr) rs2147734937
NM_001039591.3(USP9X):c.208_209del (p.His69_Thr70insTer) rs2147006012
NM_001040142.2(SCN2A):c.304C>G (p.Arg102Gly) rs387906683
NM_001042681.2(RERE):c.3732del (p.Tyr1245fs)
NM_001042750.2(STAG2):c.943T>C (p.Trp315Arg)
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs) rs1555349214
NM_001101.5(ACTB):c.1078_1079dup (p.Gln360fs)
NM_001101.5(ACTB):c.166G>T (p.Asp56Tyr) rs1584263049
NM_001101.5(ACTB):c.31_33del (p.Asp11del) rs2128241455
NM_001127392.3(MYRF):c.1817_1819dup (p.Arg606_Ile607insArg) rs2135843880
NM_001128.6(AP1G1):c.974+1G>T rs2145462890
NM_001130053.5(EEF1D):c.1114del (p.Phe371_Leu372insTer)
NM_001130438.3(SPTAN1):c.5468_5471del (p.Pro1823fs)
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln) rs1555491654
NM_001134673.4(NFIA):c.984_1015del (p.Lys328fs) rs2100485780
NM_001135998.3(NDUFB11):c.145_152dup (p.Thr52fs) rs2147053098
NM_001145073.3(USP27X):c.106C>T (p.Gln36Ter) rs2147224405
NM_001145358.2(SIN3A):c.1076dup (p.Tyr359Ter) rs2141487276
NM_001165963.4(SCN1A):c.3977C>A (p.Ala1326Asp) rs2105569724
NM_001170629.2(CHD8):c.2364+1G>C rs2139484699
NM_001170629.2(CHD8):c.2487-1G>C rs2139481823
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs) rs751094013
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001174147.2(LMX1B):c.319_320dup (p.Gln108fs) rs2118823895
NM_001190274.2(FBXO11):c.1042-1G>C rs1572806589
NM_001190274.2(FBXO11):c.1260+1G>C rs1672276134
NM_001190274.2(FBXO11):c.1276A>T (p.Asn426Tyr) rs2104808169
NM_001190274.2(FBXO11):c.1612A>G (p.Ile538Val) rs1553338592
NM_001190274.2(FBXO11):c.1825_1829del (p.Glu608_Glu609insTer) rs1671197579
NM_001190274.2(FBXO11):c.1868C>G (p.Thr623Arg) rs1671196392
NM_001190274.2(FBXO11):c.2084-1G>A rs1670754178
NM_001190274.2(FBXO11):c.2084-6_2085dup rs1670753929
NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro) rs1553335247
NM_001190274.2(FBXO11):c.2675C>A (p.Ala892Asp) rs1670358755
NM_001190274.2(FBXO11):c.2700_2703dup (p.Ala902fs) rs1670356870
NM_001190274.2(FBXO11):c.2709dup (p.Glu904Ter) rs1553334874
NM_001190274.2(FBXO11):c.2714C>G (p.Pro905Arg) rs1670356255
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer) rs1553334863
NM_001190274.2(FBXO11):c.319_320del (p.Leu107fs) rs1672866585
NM_001190274.2(FBXO11):c.414A>T (p.Arg138Ser) rs1553342109
NM_001190274.2(FBXO11):c.467A>G (p.Gln156Arg) rs1672806975
NM_001190274.2(FBXO11):c.506_507del (p.Ser169fs) rs1672803381
NM_001197104.2(KMT2A):c.11430-250_11643+240del
NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg) rs2134335014
NM_001197104.2(KMT2A):c.9449del (p.Pro3150fs)
NM_001197104.2(KMT2A):c.9847C>T (p.Arg3283Ter) rs2134408087
NM_001204077.2(UBE4A):c.1214_1215del (p.Asn405fs)
NM_001252102.2(KIF21B):c.4625A>G (p.Asn1542Ser) rs893498810
NM_001256627.2(BRSK2):c.1668G>A (p.Ser556=)
NM_001282116.2(RFX3):c.1708dup (p.Ala570fs) rs2131116061
NM_001291415.2(KDM6A):c.1486-2A>G
NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter) rs745333246
NM_001330260.2(SCN8A):c.2683C>G (p.Gln895Glu)
NM_001330260.2(SCN8A):c.5084T>C (p.Met1695Thr) rs2138942837
NM_001330260.2(SCN8A):c.736C>T (p.Gln246Ter) rs1555218610
NM_001330288.2(SMARCC2):c.230C>T (p.Pro77Leu) rs1877425899
NM_001348323.3(TRIP12):c.6129T>G (p.Tyr2043Ter)
NM_001348800.3(ZBTB20):c.1775A>G (p.Asn592Ser) rs1240860015
NM_001348800.3(ZBTB20):c.1862T>G (p.Leu621Arg)
NM_001349338.3(FOXP1):c.1000dup (p.Asp334fs) rs2107613139
NM_001349798.2(FBXW7):c.1877C>T (p.Ala626Val) rs2126466009
NM_001349798.2(FBXW7):c.1939A>T (p.Lys647Ter) rs2126464225
NM_001349798.2(FBXW7):c.832C>T (p.Arg278Ter) rs2126583593
NM_001353345.2(SETD1B):c.5443G>A (p.Asp1815Asn) rs2137589126
NM_001353345.2(SETD1B):c.5824_5829del (p.Asp1942_Tyr1943del) rs1877025777
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs) rs1602131859
NM_001363540.2(DOCK4):c.2945C>T (p.Thr982Ile)
NM_001363540.2(DOCK4):c.3131T>C (p.Met1044Thr)
NM_001363540.2(DOCK4):c.3200T>C (p.Ile1067Thr)
NM_001365902.3(NFIX):c.1254+2T>A
NM_001366521.1(ATP2B1):c.1274C>A (p.Thr425Lys) rs2136106360
NM_001366521.1(ATP2B1):c.1376A>G (p.His459Arg) rs1879993052
NM_001366521.1(ATP2B1):c.1789C>T (p.Arg597Ter) rs1879711772
NM_001366521.1(ATP2B1):c.2470G>A (p.Glu824Lys) rs2135949570
NM_001366521.1(ATP2B1):c.2972G>A (p.Arg991Gln) rs1433458409
NM_001366521.1(ATP2B1):c.3110C>G (p.Ser1037Ter)
NM_001366521.1(ATP2B1):c.458G>A (p.Trp153Ter) rs2136193860
NM_001366521.1(ATP2B1):c.716A>G (p.Asp239Gly) rs2136192267
NM_001366521.1(ATP2B1):c.791C>T (p.Thr264Ile) rs2136158725
NM_001367479.1(DNAH14):c.3697C>T (p.Gln1233Ter)
NM_001367873.1(SOX6):c.1893G>C (p.Trp631Cys) rs2119819668
NM_001367873.1(SOX6):c.2074C>T (p.Pro692Ser) rs2119818229
NM_001367873.1(SOX6):c.293C>G (p.Ser98Ter) rs2134302287
NM_001374828.1(ARID1B):c.1548del (p.Ser515_Tyr516insTer) rs2114999450
NM_001375524.1(TRRAP):c.3316G>A (p.Glu1106Lys) rs1584324956
NM_001382241.1(TNPO2):c.1471_1474delinsCAAT (p.Lys491_Arg492delinsGlnTrp) rs2145496104
NM_001382637.1(OTUD7A):c.893+1del
NM_001394998.1(TANC2):c.1441+1G>A rs2045256930
NM_001394998.1(TANC2):c.3003del (p.Ala1002fs) rs2047893330
NM_001394998.1(TANC2):c.4268+2T>G rs2048929422
NM_001394998.1(TANC2):c.4657del (p.Arg1553fs) rs2048988947
NM_001394998.1(TANC2):c.4699C>T (p.Gln1567Ter) rs764041869
NM_001394998.1(TANC2):c.4965_4968del (p.Gln1656fs) rs2048999762
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile) rs1732900321
NM_001854.4(COL11A1):c.4554+1G>C rs886044244
NM_001967.4(EIF4A2):c.1032G>C (p.Leu344Phe)
NM_001967.4(EIF4A2):c.106GAT[1] (p.Asp37del)
NM_001967.4(EIF4A2):c.131_132del (p.Leu44fs)
NM_001967.4(EIF4A2):c.481G>T (p.Gly161Trp)
NM_001967.4(EIF4A2):c.5C>G (p.Ser2Cys)
NM_001967.4(EIF4A2):c.641C>A (p.Ser214Tyr)
NM_001967.4(EIF4A2):c.646A>G (p.Thr216Ala)
NM_001967.4(EIF4A2):c.647C>T (p.Thr216Ile)
NM_001967.4(EIF4A2):c.945_947del (p.Ile315del)
NM_001967.4(EIF4A2):c.[1161_1166del;186_187del]
NM_001970.5(EIF5A):c.77G>C (p.Arg26Pro) rs2143008740
NM_002069.6(GNAI1):c.143C>A (p.Thr48Lys) rs1788434338
NM_002107.7(H3-3A):c.250C>G (p.Arg84Gly) rs1657904113
NM_002180.3(IGHMBP2):c.1391A>G (p.His464Arg) rs2154008611
NM_002529.4(NTRK1):c.303T>A (p.Ser101Arg) rs2102886126
NM_002971.6(SATB1):c.1782del (p.Gln594fs) rs2125123704
NM_003024.3(ITSN1):c.2772G>A (p.Trp924Ter)
NM_003031.4(SIAH1):c.149C>T (p.Pro50Leu) rs2151044134
NM_003036.4(SKI):c.1026del (p.Gln342fs) rs2100916221
NM_003128.3(SPTBN1):c.1922G>A (p.Trp641Ter)
NM_003128.3(SPTBN1):c.811G>A (p.Val271Met) rs2103866400
NM_003403.5(YY1):c.1150G>A (p.Val384Met) rs2139605815
NM_003491.4(NAA10):c.47A>C (p.His16Pro) rs2065185202
NM_003590.5(CUL3):c.562C>T (p.Gln188Ter) rs2106221030
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003718.5(CDK13):c.2317G>C (p.Asp773His)
NM_003793.4(CTSF):c.1159G>A (p.Glu387Lys) rs2134950483
NM_003793.4(CTSF):c.600_603del (p.Glu202fs) rs2134954582
NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp) rs1064795235
NM_004247.4(EFTUD2):c.1414-2A>G rs1597797917
NM_004370.6(COL12A1):c.9053G>A (p.Gly3018Asp) rs2149322991
NM_004456.5(EZH2):c.457T>C (p.Tyr153His) rs2129476917
NM_004491.5(ARHGAP35):c.1600C>T (p.Gln534Ter) rs2056190516
NM_004523.4(KIF11):c.758_767dup (p.Lys257fs) rs2135904903
NM_004630.4(SF1):c.221del (p.Pro74fs) rs1430022410
NM_004793.4(LONP1):c.2026C>T (p.Pro676Ser) rs879255247
NM_004818.3(DDX23):c.1912C>T (p.Arg638Cys) rs2137480864
NM_004859.4(CLTC):c.3367_3368del (p.Glu1123fs) rs2143592425
NM_004973.4(JARID2):c.2731+1G>C rs2127756207
NM_004973.4(JARID2):c.2731+5G>A rs2127756209
NM_004974.4(KCNA2):c.894_895delinsTT (p.Leu298_Val299delinsPheLeu) rs2101398625
NM_005121.3(MED13):c.1771C>T (p.Gln591Ter) rs752067544
NM_005253.4(FOSL2):c.810_811del (p.Pro271fs) rs2148100720
NM_005321.3(H1-4):c.464dup (p.Lys157fs) rs1581429554
NM_005412.6(SHMT2):c.1135A>G (p.Asn379Asp) rs2037432429
NM_005412.6(SHMT2):c.557C>G (p.Thr186Arg) rs769908186
NM_005629.4(SLC6A8):c.1252C>A (p.Gln418Lys) rs2148363775
NM_005639.3(SYT1):c.476T>G (p.Leu159Arg) rs2138866856
NM_005862.3(STAG1):c.132+5G>A rs2107831013
NM_005862.3(STAG1):c.964_965insCT (p.Tyr322fs) rs2107821339
NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter) rs1580026238
NM_006035.4(CDC42BPB):c.3615G>A (p.Trp1205Ter) rs1346688931
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006593.4(TBR1):c.1174C>T (p.Arg392Trp) rs2105280472
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006662.3(SRCAP):c.1143_1153delinsTGT (p.Pro382fs) rs2151287951
NM_006662.3(SRCAP):c.1174C>T (p.Gln392Ter) rs1555463754
NM_006662.3(SRCAP):c.148del (p.His50fs) rs2052800289
NM_006662.3(SRCAP):c.1608_1611delinsCA (p.Gln537fs) rs2151288511
NM_006662.3(SRCAP):c.1793del (p.Gly598fs) rs2151288590
NM_006662.3(SRCAP):c.2518C>T (p.Arg840Ter) rs1232266542
NM_006662.3(SRCAP):c.3833C>A (p.Ser1278Ter) rs755307689
NM_006662.3(SRCAP):c.3893-2A>G rs2151293617
NM_006662.3(SRCAP):c.4200_4204del (p.Leu1401fs) rs2151293907
NM_006662.3(SRCAP):c.435del (p.Gln145fs) rs2151286256
NM_006662.3(SRCAP):c.4557_4560del (p.Gln1519fs) rs1567248015
NM_006662.3(SRCAP):c.4648del (p.Val1550fs) rs2151294192
NM_006662.3(SRCAP):c.4925T>A (p.Leu1642Ter) rs2151294378
NM_006662.3(SRCAP):c.5102_5103del (p.Ser1701fs) rs2151294456
NM_006662.3(SRCAP):c.5387del (p.Pro1796fs) rs2151294574
NM_006662.3(SRCAP):c.5461delinsAGA (p.Ser1821fs) rs1555464955
NM_006662.3(SRCAP):c.55-1G>A rs2151284583
NM_006662.3(SRCAP):c.5527del (p.Val1843fs) rs2151294647
NM_006662.3(SRCAP):c.5549_5556del (p.Thr1850fs) rs2151294652
NM_006662.3(SRCAP):c.5633dup (p.Pro1879fs) rs748467821
NM_006662.3(SRCAP):c.5977_5980del (p.Cys1993fs) rs2151296560
NM_006662.3(SRCAP):c.5984del (p.Pro1995fs) rs2151296564
NM_006662.3(SRCAP):c.6208C>T (p.Arg2070Ter) rs2151298248
NM_006662.3(SRCAP):c.6889del (p.Arg2297fs) rs2151299623
NM_006662.3(SRCAP):c.6901del (p.Glu2301fs) rs2151299633
NM_006662.3(SRCAP):c.833del (p.Pro278fs) rs886041787
NM_006662.3(SRCAP):c.8592dup (p.Lys2865fs) rs2053186315
NM_006662.3(SRCAP):c.9126dup (p.Gln3043fs) rs2151301216
NM_006766.5(KAT6A):c.5701del (p.Val1901fs) rs2150854704
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006852.6(TLK2):c.717_718del (p.Arg240fs) rs2146228345
NM_006852.6(TLK2):c.887T>C (p.Leu296Pro) rs2079641759
NM_006885.4(ZFHX3):c.3355C>T (p.Arg1119Ter)
NM_006885.4(ZFHX3):c.5749G>T (p.Glu1917Ter)
NM_006885.4(ZFHX3):c.6040C>T (p.Gln2014Ter)
NM_006885.4(ZFHX3):c.8002C>T (p.Arg2668Ter)
NM_006922.4(SCN3A):c.5003T>C (p.Ile1668Thr) rs1685081916
NM_007129.5:c.264T>G
NM_007187.5(WBP4):c.440-1G>A
NM_007187.5(WBP4):c.499del (p.Thr167fs)
NM_007187.5(WBP4):c.668C>G (p.Ser223Ter)
NM_007187.5(WBP4):c.944del (p.Pro315fs)
NM_007279.3(U2AF2):c.746T>A (p.Val249Asp) rs2123691990
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu) rs1569442989
NM_012154.5(AGO2):c.2140C>T (p.Arg714Trp) rs866981753
NM_013275.6(ANKRD11):c.3882_3885dup (p.Ser1296fs) rs1597454239
NM_013275.6(ANKRD11):c.6288_6289insT (p.Pro2097fs)
NM_013275.6(ANKRD11):c.7168C>T (p.Gln2390Ter) rs2151730424
NM_014225.6(PPP2R1A):c.522C>G (p.Cys174Trp) rs2122334423
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014515.7(CNOT2):c.1621dup (p.Ter541LeuextTer?) rs2136104001
NM_014795.4(ZEB2):c.1384_1385del (p.Lys462fs)
NM_014927.5(CNKSR2):c.2300C>T (p.Ser767Phe) rs1569272271
NM_015015.3(KDM4B):c.1135C>T (p.Gln379Ter) rs2146018043
NM_015021.3(ZNF292):c.1160del (p.Arg387fs) rs1775120706
NM_015021.3(ZNF292):c.1360C>T (p.Arg454Ter) rs1215967523
NM_015021.3(ZNF292):c.1567C>T (p.Gln523Ter) rs1775143865
NM_015021.3(ZNF292):c.2170del (p.Cys724fs) rs1775179321
NM_015021.3(ZNF292):c.2490_2494dup (p.Ser832fs) rs1775194783
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter) rs865909396
NM_015021.3(ZNF292):c.2814_2821dup (p.Val941fs) rs1775218146
NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs) rs1135401779
NM_015021.3(ZNF292):c.3460_3463del (p.Val1154fs) rs1775264625
NM_015021.3(ZNF292):c.3709dup (p.Thr1237fs) rs1775284293
NM_015021.3(ZNF292):c.3724del (p.Gln1242fs) rs1775285095
NM_015021.3(ZNF292):c.3812C>A (p.Ser1271Ter) rs772762833
NM_015021.3(ZNF292):c.433del (p.Ser145fs) rs1772907934
NM_015021.3(ZNF292):c.4417dup (p.Ser1473fs) rs1775334064
NM_015021.3(ZNF292):c.4897A>T (p.Lys1633Ter) rs1775368255
NM_015021.3(ZNF292):c.5185C>T (p.Gln1729Ter) rs1280838951
NM_015021.3(ZNF292):c.5515_5569del (p.Glu1839fs) rs1775415071
NM_015021.3(ZNF292):c.5959_5965dup (p.Gly1989fs) rs1775442122
NM_015021.3(ZNF292):c.6142_6145del (p.Lys2048fs) rs764995318
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_015021.3(ZNF292):c.6279dup (p.Arg2094fs) rs1775468280
NM_015021.3(ZNF292):c.6343C>T (p.Arg2115Ter) rs866467799
NM_015021.3(ZNF292):c.6541C>T (p.Arg2181Ter) rs377387515
NM_015100.4(POGZ):c.1535A>G (p.His512Arg)
NM_015215.4(CAMTA1):c.2871_2883del (p.Thr959fs) rs2096136332
NM_015215.4(CAMTA1):c.487C>G (p.Arg163Gly)
NM_015557.3(CHD5):c.4171+5G>A rs2100843378
NM_015559.3(SETBP1):c.3155_3159del (p.Gly1052fs) rs2145110485
NM_016169.4(SUFU):c.555dup (p.Gln186fs) rs2135867122
NM_016628.5(WAC):c.506_507del (p.Arg169fs)
NM_017736.5(THUMPD1):c.771GTT[1] (p.Leu258del) rs772419789
NM_017872.5(THG1L):c.182A>C (p.Asn61Thr) rs2113025862
NM_017882.3(CLN6):c.782T>C (p.Phe261Ser) rs2141136011
NM_017882.3(CLN6):c.818T>C (p.Val273Ala) rs2141135967
NM_018486.3(HDAC8):c.415G>A (p.Gly139Arg) rs2147590837
NM_018489.3(ASH1L):c.6136C>T (p.Gln2046Ter)
NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser) rs398122939
NM_020791.4(TAOK1):c.1436dup (p.Met479fs) rs2153029219
NM_020791.4(TAOK1):c.1960C>T (p.Arg654Ter) rs2031934299
NM_020791.4(TAOK1):c.227A>C (p.Glu76Ala)
NM_020791.4(TAOK1):c.332C>T (p.Ser111Phe) rs2030976698
NM_020944.3(GBA2):c.2330A>C (p.His777Pro)
NM_020944.3(GBA2):c.2617C>T (p.Arg873Cys)
NM_021614.4(KCNN2):c.1771G>C (p.Gly591Arg) rs2150115220
NM_022455.5(NSD1):c.6096G>C (p.Trp2032Cys) rs1581535605
NM_022455.5(NSD1):c.6655del (p.Arg2219fs) rs2127279646
NM_022552.5(DNMT3A):c.2693T>C (p.Ile898Thr) rs960019580
NM_024496.4(IRF2BPL):c.285_322del (p.Ala102fs) rs1594798157
NM_024665.7(TBL1XR1):c.803C>T (p.Pro268Leu) rs2108479510
NM_024721.5(ZFHX4):c.3965-1G>A rs1812496169
NM_024721.5(ZFHX4):c.4223_4224del (p.Thr1408fs) rs2131940356
NM_030665.4(RAI1):c.4519_4547dup (p.Cys1516fs)
NM_032242.4(PLXNA1):c.1574_1575del (p.Leu525fs) rs2079056783
NM_032242.4(PLXNA1):c.2446T>C (p.Cys816Arg) rs2079109807
NM_032242.4(PLXNA1):c.356T>C (p.Leu119Pro) rs2107620082
NM_032242.4(PLXNA1):c.5242C>T (p.Arg1748Cys) rs2079215968
NM_032436.4(CHAMP1):c.969G>A (p.Trp323Ter) rs2139419874
NM_032536.4(NTNG2):c.1065C>G (p.Cys355Trp) rs1589568476
NM_032536.4(NTNG2):c.1076C>G (p.Ser359Cys) rs1589568530
NM_032536.4(NTNG2):c.1367G>A (p.Cys456Tyr) rs1589576879
NM_032536.4(NTNG2):c.242G>A (p.Cys81Tyr) rs1589440982
NM_032536.4(NTNG2):c.319T>G (p.Trp107Gly) rs1589441229
NM_032536.4(NTNG2):c.446T>C (p.Met149Thr) rs1589441679
NM_032536.4(NTNG2):c.599C>T (p.Ser200Leu) rs1227245973
NM_033109.5(PNPT1):c.420del (p.Leu141fs) rs1572834021
NM_033629.6(TREX1):c.82del (p.Gln28fs)
NM_057175.5(NAA15):c.1410+1G>T
NM_057175.5(NAA15):c.1841del (p.Asn614fs)
NM_057175.5(NAA15):c.218T>C (p.Leu73Ser) rs2110902008
NM_080546.5(SLC44A1):c.1009C>T (p.Gln337Ter) rs1588833694
NM_080632.3(UPF3B):c.263+3A>T rs2147802765
NM_133433.4(NIPBL):c.7861-1G>T
NM_134261.3(RORA):c.626_627del (p.Pro209fs) rs2141319872
NM_134261.3(RORA):c.900G>A (p.Trp300Ter) rs2141286330
NM_145207.3(AFG2A):c.2174T>C (p.Phe725Ser)
NM_152641.4(ARID2):c.4923-1G>C rs79280775
NM_153252.5(BRWD3):c.3413G>A (p.Trp1138Ter)
NM_153816.6(SNX14):c.512del (p.Arg171fs) rs769742160
NM_171998.4(RAB39B):c.189G>T (p.Trp63Cys) rs1569561107
NM_172107.4(KCNQ2):c.880dup (p.Ala294fs)
NM_181552.4(CUX1):c.1576del (p.Ser526fs) rs2131983329
NM_182641.4(BPTF):c.7747_7750del (p.Asp2583fs)
NM_182931.3(KMT2E):c.685A>T (p.Lys229Ter) rs2129567978
NM_197968.4(ZMYM2):c.1020_1024dup (p.Gln342fs) rs2139911544
NM_197968.4(ZMYM2):c.1397dup (p.Cys466fs) rs2139974701
NM_197968.4(ZMYM2):c.3388C>T (p.Arg1130Ter) rs1299725201
NM_198576.4(AGRN):c.5909A>G (p.Asn1970Ser) rs1167765853
NM_199334.5(THRA):c.1132_1141del (p.Gly378fs) rs2145087228
Single allele

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