ClinVar Miner

List of variants studied for Autism spectrum disorder by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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ClinVar version:
Total variants: 271
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_016032.4(ZDHHC9):c.881+3G>A rs775743190 0.00004
NM_006015.6(ARID1A):c.500C>T (p.Ala167Val) rs1327610437 0.00003
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=) rs1347561457 0.00001
NM_001271.4(CHD2):c.5134C>T (p.His1712Tyr) rs1006465697 0.00001
NM_006662.3(SRCAP):c.143C>T (p.Pro48Leu) rs1170509653 0.00001
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
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_000548.5(TSC2):c.183A>G (p.Ile61Met) rs2084961841
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_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_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_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) rs2063451959
NM_001040142.2(SCN2A):c.1800del (p.Phe601fs)
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001046.3(SLC12A2):c.1529A>G (p.Asp510Gly)
NM_001079843.3(CASZ1):c.2161A>G (p.Ser721Gly)
NM_001110792.2(MECP2):c.556A>C (p.Lys186Gln)
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)
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_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.2365-10T>G
NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)
NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)
NM_001170629.2(CHD8):c.7508A>C (p.His2503Pro)
NM_001170629.2(CHD8):c.7638TGA[2] (p.Asp2549del)
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_001282680.3(GAPVD1):c.2561del (p.Pro854fs)
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_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.471dup (p.Leu158fs)
NM_001330195.2(NRXN3):c.1394C>T (p.Thr465Ile)
NM_001330195.2(NRXN3):c.4097dup (p.Ser1367fs)
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_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.3904dup (p.Ala1302fs) rs762292772
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.3106T>G (p.Ter1036Gly)
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_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_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.3073G>A (p.Gly1025Arg)
NM_001394998.1(TANC2):c.3866T>C (p.Val1289Ala)
NM_001394998.1(TANC2):c.4328G>A (p.Arg1443His)
NM_001394998.1(TANC2):c.5596T>G (p.Phe1866Val)
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_002397.5(MEF2C):c.301C>A (p.Pro101Thr)
NM_002547.3(OPHN1):c.188C>G (p.Thr63Arg)
NM_002585.4(PBX1):c.550C>T (p.Arg184Ter) rs1553248081
NM_002831.6(PTPN6):c.1206+2T>G
NM_002971.6(SATB1):c.2194G>T (p.Val732Phe)
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_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_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_003797.5(EED):c.767T>C (p.Met256Thr)
NM_004239.4(TRIP11):c.2395A>G (p.Ser799Gly)
NM_004519.4(KCNQ3):c.1579T>C (p.Phe527Leu)
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_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_006268.5(DPF2):c.8C>G (p.Ala3Gly)
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.4674C>A (p.Ser1558Arg)
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.3382G>C (p.Glu1128Gln)
NM_013275.6(ANKRD11):c.5044G>T (p.Gly1682Cys)
NM_013275.6(ANKRD11):c.5491G>T (p.Asp1831Tyr)
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_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.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.1418A>G (p.Tyr473Cys)
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_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_015338.6(ASXL1):c.2071C>A (p.Leu691Ile)
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_016604.4(KDM3B):c.3047-1G>A
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_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_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.838A>G (p.Thr280Ala)
NM_021964.3(ZNF148):c.1994C>G (p.Ser665Cys)
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_022817.3(PER2):c.2399A>G (p.Lys800Arg)
NM_022817.3(PER2):c.958G>C (p.Gly320Arg)
NM_024496.4(IRF2BPL):c.1846del (p.Ala616fs)
NM_024570.4(RNASEH2B):c.845C>T (p.Ala282Val)
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_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_052867.4(NALCN):c.19A>T (p.Ser7Cys)
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_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_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)

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