ClinVar Miner

List of variants reported as uncertain significance for Neurodevelopmental disorder

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ClinVar version:
Total variants: 397
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HGVS dbSNP gnomAD frequency
NM_017970.4(NRDE2):c.1412-467G>A rs8020828 0.28604
NM_001114633.2(PLA2G4B):c.2305C>T (p.Arg769Cys) rs150600168 0.00199
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00074
NM_032885.6(ATG4D):c.266G>A (p.Ser89Asn) rs200278873 0.00074
NM_015557.3(CHD5):c.5249C>T (p.Thr1750Met) rs139581412 0.00064
NM_001115016.3(KANSL3):c.795A>G (p.Pro265=) rs201372384 0.00061
NM_013450.4(BAZ2B):c.3418G>T (p.Val1140Leu) rs199640978 0.00053
NM_001367479.1(DNAH14):c.5218A>G (p.Arg1740Gly) rs190061594 0.00030
NM_001363540.2(DOCK4):c.758C>T (p.Pro253Leu) rs202096330 0.00027
NM_001190274.2(FBXO11):c.2491A>G (p.Ser831Gly) rs200771165 0.00023
NM_025004.3(CCDC15):c.541C>T (p.Arg181Cys) rs141915356 0.00023
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln) rs202111577 0.00017
NM_001332.4(CTNND2):c.662C>T (p.Pro221Leu) rs1016219246 0.00014
NM_024516.4(PAGR1):c.274A>G (p.Ser92Gly) rs375215655 0.00009
NM_001130053.5(EEF1D):c.1753C>T (p.Arg585Cys) rs780189803 0.00006
NM_020448.5(NIPAL3):c.205G>A (p.Ala69Thr) rs768764094 0.00006
NM_152743.4(BRAT1):c.283-2A>T rs147005619 0.00006
NM_004793.4(LONP1):c.1271G>A (p.Arg424His) rs748335411 0.00004
NM_144775.3(SMCR8):c.2404C>T (p.Arg802Cys) rs368462355 0.00004
NM_001001671.4(MAP3K15):c.2325+1G>T rs150236554 0.00003
NM_001363540.2(DOCK4):c.1258G>A (p.Val420Met) rs768165193 0.00003
NM_001367479.1(DNAH14):c.4862T>A (p.Leu1621Gln) rs1271973468 0.00003
NM_003837.4(FBP2):c.68G>A (p.Arg23His) rs769197968 0.00003
NM_015466.4(PTPN23):c.2680C>T (p.His894Tyr) rs967738491 0.00003
NM_024989.4(PGAP1):c.1706C>T (p.Thr569Met) rs762049431 0.00003
NM_032242.4(PLXNA1):c.5632C>T (p.Arg1878Trp) rs149124469 0.00003
NM_145059.3(FCSK):c.506G>A (p.Arg169Gln) rs754115396 0.00003
NM_001378615.1(CC2D2A):c.4544A>G (p.His1515Arg) rs371944691 0.00002
NM_016580.4(PCDH12):c.1493G>A (p.Arg498His) rs374457419 0.00002
NM_020137.5(GRIPAP1):c.1474C>T (p.Arg492Trp) rs1557062715 0.00002
NM_207312.3(TUBA3E):c.1277C>A (p.Ala426Glu) rs769423615 0.00002
NM_000188.3(HK1):c.1480G>A (p.Glu494Lys) rs1332719473 0.00001
NM_000827.4(GRIA1):c.2092C>T (p.Arg698Trp) rs564265256 0.00001
NM_000875.5(IGF1R):c.3529C>T (p.Arg1177Cys) rs2016422373 0.00001
NM_001039591.3(USP9X):c.7454C>A (p.Pro2485Gln) rs2063351416 0.00001
NM_001040142.2(SCN2A):c.2975C>T (p.Ala992Val) rs1309548488 0.00001
NM_001134407.3(GRIN2A):c.1511G>A (p.Arg504Gln) rs1331671132 0.00001
NM_001170629.2(CHD8):c.4448G>C (p.Cys1483Ser) rs1887983148 0.00001
NM_001197104.2(KMT2A):c.4524G>C (p.Glu1508Asp) rs1349887077 0.00001
NM_001252102.2(KIF21B):c.865C>T (p.Arg289Trp) rs1459259252 0.00001
NM_001303052.2(MYT1L):c.634G>A (p.Ala212Thr) rs1277588922 0.00001
NM_001330260.2(SCN8A):c.5015A>G (p.Asn1672Ser) rs1592174367 0.00001
NM_001347721.2(DYRK1A):c.1909A>G (p.Met637Val) rs1353409115 0.00001
NM_001352913.2(PPP2R5C):c.556T>C (p.Trp186Arg) rs367794601 0.00001
NM_001363540.2(DOCK4):c.4040G>A (p.Arg1347Gln) rs371464726 0.00001
NM_001366145.2(TRPM3):c.3223+1G>A rs760339927 0.00001
NM_001366521.1(ATP2B1):c.2353G>A (p.Val785Ile) rs1877696565 0.00001
NM_001367479.1(DNAH14):c.12946_12947del (p.Lys4316fs) rs1490181827 0.00001
NM_001379110.1(SLC9A6):c.-57+26A>G rs782640388 0.00001
NM_001386298.1(CIC):c.5219C>T (p.Thr1740Met) rs2038076592 0.00001
NM_001394372.1(BICRA):c.3799T>A (p.Ser1267Thr) rs769799808 0.00001
NM_003072.5(SMARCA4):c.1073C>T (p.Pro358Leu) rs1060502094 0.00001
NM_003128.3(SPTBN1):c.646C>T (p.Arg216Trp) rs1677695509 0.00001
NM_003545.4(H4C5):c.52C>T (p.Arg18Cys) rs776145717 0.00001
NM_003922.4(HERC1):c.2572C>T (p.Arg858Ter) rs764310338 0.00001
NM_013450.4(BAZ2B):c.5599G>A (p.Asp1867Asn) rs1166745502 0.00001
NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val) rs1166797338 0.00001
NM_015100.4(POGZ):c.2111C>G (p.Ser704Cys) rs1654079494 0.00001
NM_015355.4(SUZ12):c.1874+8A>G rs1910003061 0.00001
NM_015378.4(VPS13D):c.5723T>C (p.Ile1908Thr) rs376670648 0.00001
NM_015557.3(CHD5):c.5305A>G (p.Asn1769Asp) rs754161216 0.00001
NM_015909.4(NBAS):c.2290C>T (p.Pro764Ser) rs200532922 0.00001
NM_017514.5(PLXNA3):c.2002C>G (p.His668Asp) rs782528486 0.00001
NM_020706.2(SCAF4):c.415A>G (p.Ser139Gly) rs1474995125 0.00001
NM_020791.4(TAOK1):c.2494C>T (p.Arg832Cys) rs372056956 0.00001
NM_020822.3(KCNT1):c.2881C>T (p.Arg961Cys) rs1178947201 0.00001
NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys) rs749476185 0.00001
NM_030805.4(LMAN2L):c.508-1102C>T rs758530620 0.00001
NM_032242.4(PLXNA1):c.1357C>T (p.Arg453Ter) rs371434286 0.00001
NM_032242.4(PLXNA1):c.2702G>A (p.Arg901His) rs774624923 0.00001
NM_032737.4(LMNB2):c.119G>T (p.Arg40Leu) rs749545201 0.00001
NM_133443.4(GPT2):c.844A>G (p.Ile282Val) rs377334484 0.00001
NM_138690.3(GRIN3B):c.1811C>T (p.Thr604Met) rs765385702 0.00001
NM_153816.6(SNX14):c.1476-8A>G rs1475452583 0.00001
NM_199334.5(THRA):c.814G>A (p.Asp272Asn) rs2145085076 0.00001
NC_000005.9:g.53180658_54552379dup
NC_000007.13:g.30439214_30632407dup
NC_000009.11:g.6558199_6619973dup
NC_000015.10:g.22723843_23122692dup
NC_000018.10:g.37119652_37256580del
NC_000018.9:g.67742689_67765169dup
NC_000019.9:g.1406030_3597207dup
NC_000020.10:g.157772_706326dup
NM_000489.6(ATRX):c.4292A>G (p.Gln1431Arg) rs2148450330
NM_000722.4(CACNA2D1):c.1401C>A (p.Phe467Leu) rs1799276414
NM_000834.5(GRIN2B):c.1568T>C (p.Val523Ala) rs2136479447
NM_000915.4(OXT):c.-3_9dup (p.Gly3_Pro4insThrMetAlaGly) rs1840123531
NM_000937.5(POLR2A):c.2732C>T (p.Pro911Leu) rs2150883515
NM_000937.5(POLR2A):c.381G>C (p.Lys127Asn) rs2150879653
NM_001001344.3(ATP2B3):c.3485C>T (p.Thr1162Met) rs2090904365
NM_001002295.2(GATA3):c.1306C>G (p.Pro436Ala) rs1832975214
NM_001003694.2(BRPF1):c.3433C>T (p.Arg1145Ter) rs2125516283
NM_001005273.3(CHD3):c.1867C>T (p.Arg623Cys) rs923486409
NM_001007527.2(LMBRD2):c.1792G>C (p.Glu598Gln) rs1581040967
NM_001012426.2(FOXP4):c.415dup (p.Leu139fs)
NM_001020658.2(PUM1):c.3267_3270del (p.His1090fs) rs2124378402
NM_001034173.4(ALDH1L2):c.398C>A (p.Pro133His) rs2502301063
NM_001042424.3(NSD2):c.2155G>A (p.Val719Met) rs200415868
NM_001069.3(TUBB2A):c.403C>G (p.Leu135Val) rs2113785610
NM_001080421.3(UNC13A):c.2008G>C (p.Gly670Arg)
NM_001080421.3(UNC13A):c.2786G>A (p.Gly929Glu) rs2076957024
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp) rs1553621798
NM_001081550.2(THOC2):c.3326T>C (p.Val1109Ala) rs2147599772
NM_001083619.3(GRIA2):c.2350A>G (p.Lys784Glu) rs2127000855
NM_001099270.4(ZBTB34):c.490_491del (p.Pro164fs) rs2538735404
NM_001101.5(ACTB):c.350AGA[1] (p.Lys118del) rs2533849974
NM_001111125.3(IQSEC2):c.2990T>G (p.Val997Gly) rs2147049357
NM_001115016.3(KANSL3):c.1409G>T (p.Gly470Val) rs2068443939
NM_001116.4(ADCY9):c.3098G>C (p.Arg1033Thr) rs2056001007
NM_001127222.2(CACNA1A):c.6780+1G>A rs2512515042
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001134407.3(GRIN2A):c.1827G>C (p.Trp609Cys) rs1555492790
NM_001148.6(ANK2):c.5963T>C (p.Met1988Thr) rs2154021231
NM_001162491.2(ARL13A):c.349G>C (p.Asp117His) rs373334251
NM_001162501.2(TNRC6B):c.917G>A (p.Ser306Asn) rs752331221
NM_001170629.2(CHD8):c.6853AAG[2] (p.Lys2287del) rs755776815
NM_001190274.2(FBXO11):c.1459T>C (p.Tyr487His) rs2531101467
NM_001190737.2(NFIB):c.30+1G>A rs2539031037
NM_001195553.2(DCX):c.187C>T (p.Arg63Cys) rs587783529
NM_001220.5(CAMK2B):c.611T>C (p.Leu204Pro) rs2128968013
NM_001252102.2(KIF21B):c.1061T>C (p.Phe354Ser) rs2465222033
NM_001252102.2(KIF21B):c.4670_4671insT (p.Met1559fs) rs2465113887
NM_001270.4(CHD1):c.3737C>T (p.Ala1246Val) rs2112324458
NM_001281775.3(ZMYND8):c.2447G>A (p.Gly816Glu)
NM_001282116.2(RFX3):c.763C>T (p.Arg255Cys) rs2131583484
NM_001282857.2(XRN1):c.624C>A (p.Asp208Glu) rs2472867497
NM_001287491.2(TET3):c.3136_3138del (p.Asn1046del)
NM_001287491.2(TET3):c.3818A>G (p.Asn1273Ser)
NM_001287491.2(TET3):c.5342C>A (p.Ser1781Tyr) rs2104237905
NM_001290060.2(SEMA3B):c.450G>C (p.Glu150Asp) rs1701032174
NM_001297595.2(SIN3B):c.803A>C (p.Lys268Thr)
NM_001318852.2(MAPK8IP3):c.3226A>G (p.Met1076Val) rs2548114208
NM_001318852.2(MAPK8IP3):c.3440G>A (p.Arg1147His) rs2141957171
NM_001323532.2(PARP6):c.1174A>G (p.Ile392Val)
NM_001326342.2(CELF2):c.221A>G (p.Tyr74Cys) rs2546601834
NM_001330260.2(SCN8A):c.5162G>A (p.Cys1721Tyr) rs2138943030
NM_001330260.2(SCN8A):c.536C>T (p.Ala179Val) rs2138712976
NM_001330288.2(SMARCC2):c.1516C>T (p.Gln506Ter) rs2135696174
NM_001330700.2(TOP2B):c.1289A>G (p.Glu430Gly) rs1266305512
NM_001332.4(CTNND2):c.2653C>T (p.Arg885Ter) rs886041494
NM_001347721.2(DYRK1A):c.263C>G (p.Ser88Cys) rs2517974756
NM_001348323.3(TRIP12):c.4909A>G (p.Met1637Val) rs2040410947
NM_001348800.3(ZBTB20):c.1845C>A (p.Phe615Leu) rs2550439042
NM_001353345.2(SETD1B):c.2078del (p.Pro693fs) rs2137560347
NM_001356.5(DDX3X):c.1282C>T (p.Arg428Trp) rs2147356782
NM_001356.5(DDX3X):c.1640A>T (p.Glu547Val) rs2147359960
NM_001363540.2(DOCK4):c.2770C>T (p.Arg924Ter) rs1803094081
NM_001363540.2(DOCK4):c.3125T>C (p.Val1042Ala) rs2536768589
NM_001363540.2(DOCK4):c.3937del (p.Asp1313fs) rs2536444575
NM_001363540.2(DOCK4):c.5913G>T (p.Lys1971Asn) rs1243762203
NM_001363540.2(DOCK4):c.892C>T (p.Arg298Ter) rs1413830150
NM_001366145.2(TRPM3):c.4493G>C (p.Trp1498Ser) rs2041829797
NM_001366521.1(ATP2B1):c.2386G>A (p.Gly796Ser) rs2540874640
NM_001367479.1(DNAH14):c.11857G>A (p.Gly3953Ser) rs1176041827
NM_001367479.1(DNAH14):c.7633C>A (p.Pro2545Thr) rs761527556
NM_001367534.1(CAMK2G):c.715G>A (p.Asp239Asn) rs2548515709
NM_001367721.1(CASK):c.172+1G>A rs2147971387
NM_001368397.1(FRMPD4):c.2317C>G (p.Leu773Val) rs2519851399
NM_001370100.5(ZMYND11):c.220A>G (p.Lys74Glu) rs2131269173
NM_001370348.2(PHF3):c.3610C>T (p.Arg1204Ter) rs2149606956
NM_001374828.1(ARID1B):c.3700G>A (p.Gly1234Arg) rs2128317800
NM_001375380.1(EBF3):c.135-2A>G rs2493682084
NM_001375524.1(TRRAP):c.11491G>A (p.Ala3831Thr) rs112253894
NM_001375765.1(GIGYF1):c.1939G>T (p.Asp647Tyr) rs568336617
NM_001375765.1(GIGYF1):c.2801C>T (p.Pro934Leu) rs2131367497
NM_001376.5(DYNC1H1):c.2678A>G (p.Tyr893Cys) rs2141275840
NM_001377534.1(DYNLT4):c.631G>C (p.Ala211Pro) rs1298092277
NM_001379291.1(BRD4):c.434A>G (p.Asp145Gly) rs2145609712
NM_001379451.1(BCORL1):c.2567_2568del (p.Gln856fs) rs2124451207
NM_001384528.1(GATAD2A):c.1073A>C (p.Lys358Thr) rs2513697772
NM_001385012.1(NBEA):c.3296dup (p.Tyr1100fs) rs2152710919
NM_001385012.1(NBEA):c.8287G>A (p.Gly2763Arg) rs2153082051
NM_001386298.1(CIC):c.1449G>C (p.Lys483Asn) rs2513604621
NM_001393769.1(MED12L):c.2968T>C (p.Ser990Pro) rs1416139284
NM_001393769.1(MED12L):c.4373C>T (p.Thr1458Ile) rs772844769
NM_001395159.1(UNC79):c.7242+1G>A
NM_001429.4(EP300):c.3302C>T (p.Thr1101Ile) rs2145747224
NM_001429.4(EP300):c.3976G>A (p.Val1326Ile) rs1268191227
NM_001794.5(CDH4):c.1835C>T (p.Ala612Val) rs951281332
NM_001830.4(CLCN4):c.1517C>G (p.Pro506Arg) rs2147182703
NM_001830.4(CLCN4):c.1906G>A (p.Val636Met) rs771033388
NM_001904.4(CTNNB1):c.1189G>A (p.Gly397Arg) rs2125638599
NM_001958.5(EEF1A2):c.164A>G (p.Lys55Arg) rs2145945553
NM_002069.6(GNAI1):c.238T>G (p.Ser80Ala) rs2115632680
NM_002069.6(GNAI1):c.869A>T (p.Tyr290Phe) rs2115713066
NM_002128.7(HMGB1):c.342del (p.Gly115fs)
NM_002576.5(PAK1):c.259G>T (p.Val87Phe) rs1949601904
NM_002730.4(PRKACA):c.61G>C (p.Ala21Pro) rs1977645307
NM_002805.6(PSMC5):c.238A>G (p.Met80Val)
NM_002816.5(PSMD12):c.168+5G>A rs2143724794
NM_002830.4(PTPN4):c.722T>C (p.Ile241Thr) rs2467016183
NM_002971.6(SATB1):c.2110G>A (p.Gly704Ser) rs1482550358
NM_003010.4(MAP2K4):c.947A>T (p.Gln316Leu) rs2508394673
NM_003024.3(ITSN1):c.1540A>G (p.Asn514Asp)
NM_003024.3(ITSN1):c.1658A>G (p.Lys553Arg)
NM_003024.3(ITSN1):c.184T>C (p.Trp62Arg)
NM_003024.3(ITSN1):c.463G>T (p.Val155Leu)
NM_003036.4(SKI):c.1138C>T (p.Arg380Ter) rs1640474693
NM_003042.4(SLC6A1):c.559A>G (p.Ser187Gly) rs2470203819
NM_003072.5(SMARCA4):c.3G>A (p.Met1Ile) rs2145720045
NM_003073.5(SMARCB1):c.968AGA[1] (p.Lys324del) rs2146027176
NM_003076.5(SMARCD1):c.521G>A (p.Arg174His) rs2539487778
NM_003107.3(SOX4):c.130G>T (p.Gly44Cys) rs753093855
NM_003128.3(SPTBN1):c.2887G>A (p.Glu963Lys) rs2103937586
NM_003185.4(TAF4):c.1699G>C (p.Val567Leu)
NM_003185.4(TAF4):c.2801A>T (p.Tyr934Phe)
NM_003403.5(YY1):c.976G>A (p.Val326Ile) rs2139604210
NM_003482.4(KMT2D):c.16529A>G (p.Tyr5510Cys) rs1383821738
NM_003491.4(NAA10):c.478C>T (p.Arg160Trp) rs1569546258
NM_003540.4(H4C6):c.96G>C (p.Lys32Asn) rs117670320
NM_003601.4(SMARCA5):c.1310C>T (p.Ser437Leu)
NM_003922.4(HERC1):c.10475T>C (p.Val3492Ala) rs752824148
NM_004068.4(AP2M1):c.238G>A (p.Glu80Lys) rs2109029641
NM_004114.5(FGF13):c.32G>A (p.Arg11His) rs2090039732
NM_004147.4(DRG1):c.43-1G>T rs2049955711
NM_004187.5(KDM5C):c.2517-7_2517-6insTAG rs2146844967
NM_004229.4(MED14):c.4036G>A (p.Ala1346Thr) rs2146606969
NM_004289.7(NFE2L3):c.433G>T (p.Gly145Cys) rs963731881
NM_004289.7(NFE2L3):c.79del (p.Arg27fs) rs2535583651
NM_004380.3(CREBBP):c.5071A>T (p.Met1691Leu) rs1231818807
NM_004398.4(DDX10):c.1609G>A (p.Ala537Thr) rs779168659
NM_004640.7(DDX39B):c.109G>T (p.Gly37Cys) rs2481452992
NM_004640.7(DDX39B):c.132C>G (p.Ser44Arg) rs763394152
NM_004640.7(DDX39B):c.275G>A (p.Gly92Asp) rs2481439394
NM_004640.7(DDX39B):c.368G>A (p.Arg123Gln) rs2481434228
NM_004640.7(DDX39B):c.433-1G>T rs2481412217
NM_004758.4(TSPOAP1):c.1942G>T (p.Gly648Cys) rs2143077017
NM_004818.3(DDX23):c.480+2T>C rs2498758666
NM_004958.4(MTOR):c.1165C>T (p.Gln389Ter)
NM_004958.4(MTOR):c.5698C>T (p.Leu1900Phe) rs1643023228
NM_005121.3(MED13):c.5255A>G (p.Asp1752Gly) rs1338316283
NM_005308.3(GRK5):c.30_31delinsCT (p.Val11Phe) rs1848415086
NM_005392.4(PHF2):c.1475dup (p.Thr493fs) rs769717544
NM_005393.3(PLXNB3):c.4274C>A (p.Thr1425Asn) rs2091974044
NM_005427.4(TP73):c.901G>A (p.Asp301Asn) rs986713005
NM_005445.4(SMC3):c.631G>T (p.Ala211Ser) rs2493113288
NM_005859.5(PURA):c.265G>A (p.Ala89Thr) rs587782999
NM_005915.6(MCM6):c.605A>G (p.Asp202Gly) rs2467301834
NM_006015.6(ARID1A):c.2149G>A (p.Ala717Thr) rs2124057017
NM_006035.4(CDC42BPB):c.4471A>G (p.Thr1491Ala) rs1260441132
NM_006035.4(CDC42BPB):c.4475T>C (p.Met1492Thr) rs2542738579
NM_006078.5(CACNG2):c.436+1G>A rs2145905176
NM_006086.4(TUBB3):c.1188C>G (p.His396Gln) rs2544628188
NM_006196.4(PCBP1):c.137G>A (p.Arg46Gln) rs2104759178
NM_006314.3(CNKSR1):c.503G>T (p.Gly168Val) rs2523105744
NM_006421.5(ARFGEF1):c.5194C>T (p.Arg1732Cys) rs1563832518
NM_006445.4(PRPF8):c.4338+2T>C rs2543734023
NM_006445.4(PRPF8):c.6065A>G (p.Gln2022Arg)
NM_006593.4(TBR1):c.1190+5G>A rs2105280484
NM_006618.5(KDM5B):c.3610G>A (p.Val1204Met)
NM_006662.3(SRCAP):c.9338_9341del (p.Leu3113fs) rs2053199279
NM_006662.3(SRCAP):c.9344del (p.Pro3115fs) rs2151301366
NM_006662.3(SRCAP):c.9364del (p.Leu3122fs) rs2151301385
NM_006885.4(ZFHX3):c.5767C>T (p.Pro1923Ser) rs2507405963
NM_006885.4(ZFHX3):c.9643_9657del (p.Ala3215_Pro3219del) rs2507355398
NM_007118.4(TRIO):c.5879A>C (p.Glu1960Ala) rs2126551592
NM_007192.4(SUPT16H):c.2515G>A (p.Glu839Lys) rs2139397532
NM_007192.4(SUPT16H):c.548T>C (p.Met183Thr) rs771105762
NM_012086.5(GTF3C3):c.1420C>T (p.Arg474Ter) rs1019988331
NM_012199.5(AGO1):c.1217T>C (p.Val406Ala) rs2148715621
NM_012281.3(KCND2):c.566A>G (p.Tyr189Cys) rs2546907357
NM_012290.5(TLK1):c.1435C>G (p.Gln479Glu) rs1684682666
NM_012433.4(SF3B1):c.2107A>C (p.Thr703Pro) rs760147216
NM_013427.3(ARHGAP6):c.2287T>C (p.Ser763Pro)
NM_013436.5(NCKAP1):c.2273A>G (p.Gln758Arg) rs2468587724
NM_013450.4(BAZ2B):c.3471+2dup
NM_013450.4(BAZ2B):c.4213+1G>A rs2061024668
NM_013450.4(BAZ2B):c.6210-3T>C rs2063241999
NM_014159.7(SETD2):c.1328G>A (p.Arg443Lys) rs2106700573
NM_014159.7(SETD2):c.5218C>G (p.Arg1740Gly) rs1057523157
NM_014232.3(VAMP2):c.60del (p.Ala21fs) rs2151865530
NM_014233.4(UBTF):c.1375_1380delinsT (p.Arg459fs) rs2144532981
NM_014370.4(SRPK3):c.806A>C (p.Lys269Thr) rs2520397819
NM_014633.5(CTR9):c.101T>C (p.Leu34Pro)
NM_014633.5(CTR9):c.797C>T (p.Pro266Leu)
NM_014712.3(SETD1A):c.3243del (p.Arg1082fs) rs2143538061
NM_014712.3(SETD1A):c.916C>G (p.Gln306Glu) rs2056109588
NM_014717.3(ZNF536):c.1015G>T (p.Glu339Ter) rs774965623
NM_014847.4(UBAP2L):c.2761C>G (p.Pro921Ala)
NM_014847.4(UBAP2L):c.2870C>T (p.Pro957Leu) rs1034044389
NM_014921.5(ADGRL1):c.3427C>T (p.Arg1143Ter) rs2512729194
NM_014946.4(SPAST):c.167C>A (p.Pro56Gln) rs1676399509
NM_014974.3(DIP2C):c.2208_2209dup (p.Ala737fs) rs779890829
NM_014974.3(DIP2C):c.2232del (p.Tyr745fs) rs2540673729
NM_014974.3(DIP2C):c.3757C>T (p.Arg1253Ter) rs2132443689
NM_014974.3(DIP2C):c.4314C>G (p.Tyr1438Ter) rs766542518
NM_014991.6(WDFY3):c.4592+1G>A rs2533139095
NM_014991.6(WDFY3):c.7676A>G (p.Lys2559Arg) rs2149066183
NM_014991.6(WDFY3):c.9398C>G (p.Ala3133Gly)
NM_015021.3(ZNF292):c.1858G>T (p.Glu620Ter) rs1775159559
NM_015021.3(ZNF292):c.1897C>T (p.Arg633Ter) rs1775161294
NM_015021.3(ZNF292):c.1910del (p.Lys637fs) rs1775161900
NM_015021.3(ZNF292):c.3053dup (p.Gln1019fs) rs1775236367
NM_015021.3(ZNF292):c.5374_5378del (p.Asn1792fs) rs1775403177
NM_015021.3(ZNF292):c.6578A>C (p.Tyr2193Ser) rs1554208945
NM_015021.3(ZNF292):c.6661_6664del (p.Leu2221fs) rs1775494843
NM_015021.3(ZNF292):c.6935dup (p.Ser2313fs) rs1775514251
NM_015021.3(ZNF292):c.7062_7064del (p.Asn2354del) rs1775529808
NM_015021.3(ZNF292):c.7304_7308del (p.Val2435fs) rs1775548411
NM_015076.5(CDK19):c.764T>C (p.Ile255Thr) rs2114669112
NM_015335.5(MED13L):c.2570-1G>T rs2137331044
NM_015409.5(EP400):c.3349_3352del (p.Leu1117fs) rs2136530742
NM_015409.5(EP400):c.6538G>T (p.Glu2180Ter) rs1234659324
NM_015466.4(PTPN23):c.4631C>T (p.Ser1544Phe) rs1705359063
NM_015557.3(CHD5):c.3680G>C (p.Gly1227Ala) rs1557544846
NM_015565.3(LTN1):c.5220del (p.Lys1740fs) rs1389074071
NM_015902.6(UBR5):c.4791G>T (p.Glu1597Asp) rs1815507275
NM_015981.4(CAMK2A):c.1409A>G (p.Asp470Gly) rs2481475962
NM_016032.4(ZDHHC9):c.496G>C (p.Asp166His) rs2124105757
NM_016148.5(SHANK1):c.1505G>C (p.Arg502Pro)
NM_016281.4(TAOK3):c.1009del (p.Ser336_Leu337insTer) rs2139244484
NM_016284.5(CNOT1):c.820C>T (p.Arg274Cys) rs1351476758
NM_016333.4(SRRM2):c.109A>G (p.Lys37Glu)
NM_016333.4(SRRM2):c.2502T>G (p.Ser834Arg)
NM_016333.4(SRRM2):c.5840G>T (p.Arg1947Leu)
NM_016390.4(SPOUT1):c.741ATC[1] (p.Ser249del) rs749238902
NM_016390.4(SPOUT1):c.866C>T (p.Thr289Met) rs1830188049
NM_016604.4(KDM3B):c.3910C>T (p.Leu1304Phe) rs2126994232
NM_017588.3(WDR5):c.354+2dup rs2539673713
NM_017736.5(THUMPD1):c.133G>A (p.Gly45Ser) rs1430954456
NM_017780.4(CHD7):c.2219A>G (p.Asp740Gly) rs761748737
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys) rs1064794250
NM_017934.7(PHIP):c.5021del (p.Asp1673_Leu1674insTer) rs2127677696
NM_018263.6(ASXL2):c.2851C>T (p.Pro951Ser) rs2465305443
NM_018914.3(PCDHGA11):c.1355T>G (p.Val452Gly) rs2489234461
NM_019066.5(MAGEL2):c.1542G>T (p.Trp514Cys) rs2140715759
NM_020159.5(SMARCAD1):c.2557T>A (p.Ser853Thr) rs1753894795
NM_020177.3(FEM1C):c.973A>G (p.Ile325Val)
NM_020180.4(CELF4):c.1037del (p.Pro346fs)
NM_020180.4(CELF4):c.287-5_300del
NM_020180.4(CELF4):c.348C>G (p.His116Gln)
NM_020180.4(CELF4):c.349G>T (p.Glu117Ter)
NM_020180.4(CELF4):c.370-67640C>A
NM_020180.4(CELF4):c.412C>T (p.Arg138Ter)
NM_020180.4(CELF4):c.475C>G (p.Leu159Val)
NM_020180.4(CELF4):c.557G>C (p.Gly186Ala)
NM_020180.4(CELF4):c.577+2T>G
NM_020180.4(CELF4):c.578G>T (p.Gly193Val)
NM_020180.4(CELF4):c.582C>A (p.Cys194Ter)
NM_020180.4(CELF4):c.792C>A (p.Tyr264Ter) rs561213595
NM_020180.4(CELF4):c.811C>T (p.Gln271Ter)
NM_020338.4(ZMIZ1):c.3150dup (p.Asp1051fs) rs762162611
NM_020340.5(ARFGEF3):c.3671_3672del (p.His1224fs) rs2482587638
NM_020706.2(SCAF4):c.1322G>C (p.Arg441Thr) rs2123543369
NM_020765.3(UBR4):c.10821C>T (p.Asn3607=) rs2149407177
NM_020791.4(TAOK1):c.210G>A (p.Trp70Ter) rs2153026442
NM_020791.4(TAOK1):c.289C>T (p.Arg97Cys) rs2508195356
NM_020928.2(ZSWIM6):c.3488G>A (p.Arg1163Gln) rs2112298347
NM_021005.4(NR2F2):c.269A>G (p.His90Arg) rs2141166925
NM_021120.4(DLG3):c.2348-42_2348-4delinsAAGAGGAAAACAAAATTATTACTGTATACAG rs2147896811
NM_021160.3(ABHD16A):c.19T>C (p.Cys7Arg) rs2151263491
NM_022048.5(CSNK1G1):c.1103A>G (p.Asn368Ser)
NM_022474.4(PALS1):c.1537+1G>T
NM_022474.4(PALS1):c.1851+1G>T
NM_022552.5(DNMT3A):c.2390A>G (p.Asn797Ser) rs767588813
NM_022841.7(RFX7):c.2874AACCCC[4] (p.948PT[10]) rs766009038
NM_024503.5(HIVEP3):c.4121A>G (p.His1374Arg) rs1644389600
NM_024721.5(ZFHX4):c.118C>T (p.Pro40Ser) rs1808179909
NM_024721.5(ZFHX4):c.1243G>T (p.Val415Leu)
NM_024757.5(EHMT1):c.3325T>C (p.Cys1109Arg) rs2132759440
NM_024757.5(EHMT1):c.3897_*6del (p.Ter1299TrpextTer?) rs2133163719
NM_024757.5(EHMT1):c.40del (p.Glu14fs) rs1564618717
NM_024989.4(PGAP1):c.1351-1G>T rs2468626295
NM_025004.3(CCDC15):c.268C>T (p.Arg90Ter) rs755396322
NM_025150.5(TARS2):c.388-1G>C rs2102476204
NM_030971.6(SFXN3):c.628del (p.Ala210fs) rs563028036
NM_030973.4(MED25):c.275A>G (p.Tyr92Cys) rs549136898
NM_031206.7(LAS1L):c.1396G>T (p.Val466Phe) rs2148286671
NM_032242.4(PLXNA1):c.231C>G (p.Asn77Lys) rs749105753
NM_032590.5(KDM2B):c.54_58del (p.Arg18fs)
NM_032737.4(LMNB2):c.236C>T (p.Ser79Leu) rs2512249540
NM_032776.3(JMJD1C):c.2219T>C (p.Leu740Pro) rs2133216478
NM_032776.3(JMJD1C):c.5210T>C (p.Ile1737Thr) rs1845900106
NM_032776.3(JMJD1C):c.7225-2A>G rs2132807373
NM_032960.4(MAPKAPK2):c.445C>T (p.Arg149Ter) rs1673811124
NM_052874.5(STX1B):c.821T>C (p.Leu274Pro) rs2543953726
NM_052876.4(NACC1):c.133C>T (p.Arg45Trp) rs1555722264
NM_052909.5(PLEKHG4B):c.4192G>A (p.Asp1398Asn) rs750021350
NM_052942.5(GBP5):c.502_505dup (p.Ser169Ter) rs540327216
NM_057175.5(NAA15):c.426G>T (p.Gln142His) rs2110915299
NM_080632.3(UPF3B):c.1265AAG[2] (p.Glu424del) rs2056115071
NM_138690.3(GRIN3B):c.2114A>G (p.Tyr705Cys) rs747179788
NM_145059.3(FCSK):c.3164A>G (p.Asn1055Ser) rs2048935406
NM_145716.4(SSBP3):c.177del (p.Leu59fs) rs2100828944
NM_152383.5(DIS3L2):c.1232C>A (p.Ala411Asp) rs2106252250
NM_170606.3(KMT2C):c.9517+5G>A rs2129107221
NM_173495.3(PTCHD1):c.2351_2352insCAT (p.Thr784_Lys785insIle) rs2518767618
NM_177438.3(DICER1):c.4691A>G (p.Glu1564Gly) rs2542489596
NM_177559.3(CSNK2A1):c.193GTT[2] (p.Val67del) rs2018548182
NM_181675.4(PPP2R2B):c.930C>A (p.Asn310Lys) rs2151016852
NM_182641.4(BPTF):c.3805_3806del (p.Leu1269fs) rs2146930662
NM_182710.3(KAT5):c.1622G>C (p.Ser541Thr) rs2495303016
NM_182931.3(KMT2E):c.5226dup (p.Pro1743fs) rs2129570272
NM_199141.2(CARM1):c.421A>G (p.Thr141Ala) rs2513483699
NM_201599.3(ZMYM3):c.688_699dup (p.Lys233_Pro234insAlaSerGluLys) rs2519844077
NR_002757.3(RNU5B-1):n.44A>G
Single allele

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